psui3905/ncbi_genes_summary huggingface dataset:
FKBP6, Official Symbol FKBP6provided by HGNC Official Full Name FKBP prolyl isomerase family member 6 (inactive)provided by HGNC Primary source HGNC:HGNC:3722 See related Ensembl:ENSG00000077800 MIM:604839; AllianceGenome:HGNC:3722 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP36; SPGF77 Summary The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Restricted expression toward testis (RPKM 29.4) See more Orthologs mouse all
FKBP7, Official Symbol FKBP7provided by HGNC Official Full Name FKBP prolyl isomerase 7provided by HGNC Primary source HGNC:HGNC:3723 See related Ensembl:ENSG00000079150 MIM:607062; AllianceGenome:HGNC:3723 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP23; PPIase Summary The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 13.6), endometrium (RPKM 9.0) and 21 other tissues See more Orthologs mouse all
FKBP8, Official Symbol FKBP8provided by HGNC Official Full Name FKBP prolyl isomerase 8provided by HGNC Primary source HGNC:HGNC:3724 See related Ensembl:ENSG00000105701 MIM:604840; AllianceGenome:HGNC:3724 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP38; FKBPr38 Summary The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 106.8), brain (RPKM 101.5) and 25 other tissues See more Orthologs mouse all
FKBP9, Official Symbol FKBP9provided by HGNC Official Full Name FKBP prolyl isomerase 9provided by HGNC Primary source HGNC:HGNC:3725 See related Ensembl:ENSG00000122642 MIM:616257; AllianceGenome:HGNC:3725 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP60; FKBP63; PPIase Summary Predicted to enable calcium ion binding activity. Predicted to be involved in protein folding. Predicted to be located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 23.7), placenta (RPKM 21.9) and 24 other tissues See more Orthologs mouse all
FKBP9P1, Official Symbol FKBP9P1provided by HGNC Official Full Name FKBP prolyl isomerase 9 pseudogene 1provided by HGNC Primary source HGNC:HGNC:23568 See related Ensembl:ENSG00000291029 AllianceGenome:HGNC:23568 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKBP9L Summary Predicted to enable calcium ion binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 7.0), gall bladder (RPKM 6.2) and 24 other tissues See more
FKBPL, Official Symbol FKBPLprovided by HGNC Official Full Name FKBP prolyl isomerase likeprovided by HGNC Primary source HGNC:HGNC:13949 See related Ensembl:ENSG00000204315 MIM:617076; AllianceGenome:HGNC:13949 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NG7; DIR1; WISP39 Summary The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 3.5), thyroid (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
FKRP, Official Symbol FKRPprovided by HGNC Official Full Name fukutin related proteinprovided by HGNC Primary source HGNC:HGNC:17997 See related Ensembl:ENSG00000181027 MIM:606596; AllianceGenome:HGNC:17997 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKTR; MDC1C; LGMD2I; LGMDR9; MDDGA5; MDDGB5; MDDGC5 Summary This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in placenta (RPKM 3.9), kidney (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
FKTN, Official Symbol FKTNprovided by HGNC Official Full Name fukutinprovided by HGNC Primary source HGNC:HGNC:3622 See related Ensembl:ENSG00000106692 MIM:607440; AllianceGenome:HGNC:3622 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4; LGMDR13 Summary The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in thyroid (RPKM 2.6), brain (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
FLACC1, Official Symbol FLACC1provided by HGNC Official Full Name flagellum associated containing coiled-coil domains 1provided by HGNC Primary source HGNC:HGNC:14439 See related Ensembl:ENSG00000155749 MIM:619796; AllianceGenome:HGNC:14439 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALS2CR12 Summary Predicted to be located in cytoplasmic vesicle and sperm flagellum. Predicted to be active in cytoplasm; outer dense fiber; and sperm fibrous sheath. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.4), lung (RPKM 1.1) and 3 other tissues See more Orthologs all
FLAD1, Official Symbol FLAD1provided by HGNC Official Full Name flavin adenine dinucleotide synthetase 1provided by HGNC Primary source HGNC:HGNC:24671 See related Ensembl:ENSG00000160688 MIM:610595; AllianceGenome:HGNC:24671 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAD1; FADS; PP591; LSMFLAD Summary This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 5.9), lymph node (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
FLCN, Official Symbol FLCNprovided by HGNC Official Full Name folliculinprovided by HGNC Primary source HGNC:HGNC:27310 See related Ensembl:ENSG00000154803 MIM:607273; AllianceGenome:HGNC:27310 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BHD; FLCL; DENND8B Summary This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
FLG, Official Symbol FLGprovided by HGNC Official Full Name filaggrinprovided by HGNC Primary source HGNC:HGNC:3748 See related Ensembl:ENSG00000143631 MIM:135940; AllianceGenome:HGNC:3748 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLG1; ATOD2; FLG-1 Summary The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] Expression Restricted expression toward skin (RPKM 454.2) See more Orthologs mouse all
FLG-AS1, Official Symbol FLG-AS1provided by HGNC Official Full Name FLG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27913 See related Ensembl:ENSG00000237975 AllianceGenome:HGNC:27913 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCDST; LINC02962; lnc-CCDST Expression Restricted expression toward skin (RPKM 478.1) See more
FLG2, Official Symbol FLG2provided by HGNC Official Full Name filaggrin 2provided by HGNC Primary source HGNC:HGNC:33276 See related Ensembl:ENSG00000143520 MIM:616284; AllianceGenome:HGNC:33276 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IFPS; PSS6 Summary The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020] Expression Restricted expression toward skin (RPKM 248.2) See more Orthologs all
FLI1, Official Symbol FLI1provided by HGNC Official Full Name Fli-1 proto-oncogene, ETS transcription factorprovided by HGNC Primary source HGNC:HGNC:3749 See related Ensembl:ENSG00000151702 MIM:193067; AllianceGenome:HGNC:3749 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EWSR2; FLI-1; SIC-1; BDPLT21 Summary This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Annotation information Note: FLI1 (Gene ID: 2313) and FLII (Gene ID: 2314) share the FLI1 symbol/alias in common. FLI1 is a widely used alternative name for FLII, actin remodeling protein (FLII), which can be confused with the official symbol for FLI1 (Fli-1 proto-oncogene, ETS transcription factor, GeneID 2313). [01 Jun 2018] Expression Broad expression in spleen (RPKM 33.9), lymph node (RPKM 17.6) and 20 other tissues See more Orthologs mouse all
FLICR, Official Symbol FLICRprovided by HGNC Official Full Name FOXP3 regulating long intergenic non-coding RNAprovided by HGNC Primary source HGNC:HGNC:53589 See related AllianceGenome:HGNC:53589 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLII, Official Symbol FLIIprovided by HGNC Official Full Name FLII actin remodeling proteinprovided by HGNC Primary source HGNC:HGNC:3750 See related Ensembl:ENSG00000177731 MIM:600362; AllianceGenome:HGNC:3750 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLI; FLIL; Fli1 Summary This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Annotation information Note: FLI1 (Gene ID: 2313) and FLII (Gene ID: 2314) share the FLI1 symbol/alias in common. FLI1 is a widely used alternative name for FLII, actin remodeling protein (FLII), which can be confused with the official symbol for FLI1 (Fli-1 proto-oncogene, ETS transcription factor, GeneID 2313). [01 Jun 2018] Expression Ubiquitous expression in testis (RPKM 32.8), spleen (RPKM 32.4) and 25 other tissues See more Orthologs mouse all
FLJ12825, Gene symbol FLJ12825 Gene description uncharacterized LOC440101 See related Ensembl:ENSG00000248265 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
FLJ13224, Gene symbol FLJ13224 Gene description uncharacterized LOC79857 See related Ensembl:ENSG00000177340 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLJ16779, Gene symbol FLJ16779 Gene description uncharacterized LOC100192386 See related Ensembl:ENSG00000275620 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLJ20021, Gene symbol FLJ20021 Gene description uncharacterized LOC90024 See related Ensembl:ENSG00000254531 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in prostate (RPKM 14.8), fat (RPKM 5.8) and 24 other tissues See more
FLJ30679, Gene symbol FLJ30679 Gene description uncharacterized protein FLJ30679 See related Ensembl:ENSG00000280278 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLJ36000, Gene symbol FLJ36000 Gene description uncharacterized FLJ36000 See related Ensembl:ENSG00000276399 MIM:605160 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 2.6) See more
FLJ38576, Gene symbol FLJ38576 Gene description uncharacterized LOC651430 See related Ensembl:ENSG00000279943 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLJ40194, Gene symbol FLJ40194 Gene description uncharacterized FLJ40194 See related Ensembl:ENSG00000177369 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 8.4) See more
FLJ40288, Gene symbol FLJ40288 Gene description Putative uncharacterized protein FLJ40288 See related Ensembl:ENSG00000183470 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
FLJ42393, Gene symbol FLJ42393 Gene description uncharacterized LOC401105 See related Ensembl:ENSG00000279891 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AVPC1948
FLJ42969, Gene symbol FLJ42969 Gene description uncharacterized LOC441374 See related Ensembl:ENSG00000248599 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
FLJ43315, Gene symbol FLJ43315 Gene description asparagine synthetase pseudogene See related Ensembl:ENSG00000291012 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
FLJ46284, Gene symbol FLJ46284 Gene description uncharacterized LOC441369 See related Ensembl:ENSG00000248858 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
FLNA, Official Symbol FLNAprovided by HGNC Official Full Name filamin Aprovided by HGNC Primary source HGNC:HGNC:3754 See related Ensembl:ENSG00000196924 MIM:300017; AllianceGenome:HGNC:3754 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLN; FMD; MNS; OPD; ABPX; CSBS; CVD1; FGS2; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280 Summary The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] Expression Broad expression in endometrium (RPKM 345.6), esophagus (RPKM 285.0) and 22 other tissues See more Orthologs mouse all
FLNB, Official Symbol FLNBprovided by HGNC Official Full Name filamin Bprovided by HGNC Primary source HGNC:HGNC:3755 See related Ensembl:ENSG00000136068 MIM:603381; AllianceGenome:HGNC:3755 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280 Summary This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in colon (RPKM 41.4), prostate (RPKM 35.6) and 25 other tissues See more Orthologs mouse all
FLNB-AS1, Official Symbol FLNB-AS1provided by HGNC Official Full Name FLNB antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40239 See related Ensembl:ENSG00000244161 AllianceGenome:HGNC:40239 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in prostate (RPKM 4.2), colon (RPKM 4.0) and 25 other tissues See more
FLNC, Official Symbol FLNCprovided by HGNC Official Full Name filamin Cprovided by HGNC Primary source HGNC:HGNC:3756 See related Ensembl:ENSG00000128591 MIM:102565; AllianceGenome:HGNC:3756 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ARVC15; ABP-280; ABP280A Summary This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022] Expression Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues See more Orthologs mouse all
FLNC-AS1, Official Symbol FLNC-AS1provided by HGNC Official Full Name FLNC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53474 See related Ensembl:ENSG00000242902 AllianceGenome:HGNC:53474 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLOT1, Official Symbol FLOT1provided by HGNC Official Full Name flotillin 1provided by HGNC Primary source HGNC:HGNC:3757 See related Ensembl:ENSG00000137312 MIM:606998; AllianceGenome:HGNC:3757 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in adrenal (RPKM 66.3), heart (RPKM 56.6) and 25 other tissues See more Orthologs mouse all
FLOT2, Official Symbol FLOT2provided by HGNC Official Full Name flotillin 2provided by HGNC Primary source HGNC:HGNC:3758 See related Ensembl:ENSG00000132589 MIM:131560; AllianceGenome:HGNC:3758 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ESA; ECS1; ESA1; ECS-1; M17S1 Summary Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 42.8), spleen (RPKM 42.2) and 25 other tissues See more Orthologs mouse all
FLRT1, Official Symbol FLRT1provided by HGNC Official Full Name fibronectin leucine rich transmembrane protein 1provided by HGNC Primary source HGNC:HGNC:3760 See related Ensembl:ENSG00000126500 MIM:604806; AllianceGenome:HGNC:3760 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPG68 Summary This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 4.3), adrenal (RPKM 3.2) and 14 other tissues See more Orthologs mouse all
FLRT2, Official Symbol FLRT2provided by HGNC Official Full Name fibronectin leucine rich transmembrane protein 2provided by HGNC Primary source HGNC:HGNC:3761 See related Ensembl:ENSG00000185070 MIM:604807; AllianceGenome:HGNC:3761 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which regulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular region consisting of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent through its interaction with members of the uncoordinated-5 receptor family. Proteolytic removal of the extracellular region controls the migration of neurons in the developing cortex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in ovary (RPKM 6.8), brain (RPKM 2.7) and 21 other tissues See more Orthologs mouse all
FLRT3, Official Symbol FLRT3provided by HGNC Official Full Name fibronectin leucine rich transmembrane protein 3provided by HGNC Primary source HGNC:HGNC:3762 See related Ensembl:ENSG00000125848 MIM:604808; AllianceGenome:HGNC:3762 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HH21 Summary This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010] Expression Broad expression in kidney (RPKM 12.2), lung (RPKM 9.3) and 16 other tissues See more Orthologs mouse all
FLT1, Official Symbol FLT1provided by HGNC Official Full Name fms related receptor tyrosine kinase 1provided by HGNC Primary source HGNC:HGNC:3763 See related Ensembl:ENSG00000102755 MIM:165070; AllianceGenome:HGNC:3763 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLT; FLT-1; VEGFR1; VEGFR-1 Summary This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009] Expression Biased expression in placenta (RPKM 90.6), thyroid (RPKM 20.1) and 8 other tissues See more Orthologs mouse all
FLT1P1, Official Symbol FLT1P1provided by HGNC Official Full Name FLT1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44609 See related Ensembl:ENSG00000229515 AllianceGenome:HGNC:44609 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLT3, Official Symbol FLT3provided by HGNC Official Full Name fms related receptor tyrosine kinase 3provided by HGNC Primary source HGNC:HGNC:3765 See related Ensembl:ENSG00000122025 MIM:136351; AllianceGenome:HGNC:3765 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLK2; STK1; CD135; FLK-2 Summary This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015] Expression Broad expression in spleen (RPKM 4.2), lymph node (RPKM 3.7) and 16 other tissues See more Orthologs mouse all
FLT3LG, Official Symbol FLT3LGprovided by HGNC Official Full Name fms related receptor tyrosine kinase 3 ligandprovided by HGNC Primary source HGNC:HGNC:3766 See related Ensembl:ENSG00000090554 MIM:600007; AllianceGenome:HGNC:3766 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FL; FLG3L; FLT3L Summary Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011] Expression Ubiquitous expression in spleen (RPKM 4.5), lymph node (RPKM 4.2) and 24 other tissues See more Orthologs mouse all
FLT4, Official Symbol FLT4provided by HGNC Official Full Name fms related receptor tyrosine kinase 4provided by HGNC Primary source HGNC:HGNC:3767 See related Ensembl:ENSG00000037280 MIM:136352; AllianceGenome:HGNC:3767 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCL; CHTD7; FLT-4; FLT41; LMPH1A; LMPHM1; VEGFR3; VEGFR-3 Summary This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 7.7), lung (RPKM 6.7) and 21 other tissues See more Orthologs mouse all
FLVCR1, Official Symbol FLVCR1provided by HGNC Official Full Name FLVCR choline and heme transporter 1provided by HGNC Primary source HGNC:HGNC:24682 See related Ensembl:ENSG00000162769 MIM:609144; AllianceGenome:HGNC:24682 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCA; AXPC1; FLVCR; PCARP; MFSD7B; SLC49A1 Summary This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] Expression Broad expression in small intestine (RPKM 9.2), duodenum (RPKM 4.1) and 21 other tissues See more Orthologs mouse all
FLVCR1-DT, Official Symbol FLVCR1-DTprovided by HGNC Official Full Name FLVCR1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:39077 See related Ensembl:ENSG00000198468 MIM:610864; AllianceGenome:HGNC:39077 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LQK1; FLVCR1-AS1; NCRNA00292 Expression Ubiquitous expression in kidney (RPKM 2.9), small intestine (RPKM 2.9) and 25 other tissues See more
FLVCR2, Official Symbol FLVCR2provided by HGNC Official Full Name FLVCR choline and putative heme transporter 2provided by HGNC Primary source HGNC:HGNC:20105 See related Ensembl:ENSG00000119686 MIM:610865; AllianceGenome:HGNC:20105 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCT; EPV; PVHH; MFSD7C; SLC49A2; C14orf58; FLVCRL14q Summary This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010] Expression Broad expression in small intestine (RPKM 10.8), testis (RPKM 9.1) and 21 other tissues See more Orthologs mouse all
FLYWCH1, Official Symbol FLYWCH1provided by HGNC Official Full Name FLYWCH-type zinc finger 1provided by HGNC Primary source HGNC:HGNC:25404 See related Ensembl:ENSG00000059122 MIM:620431; AllianceGenome:HGNC:25404 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable DNA binding activity and metal ion binding activity. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
FLYWCH1P1, Official Symbol FLYWCH1P1provided by HGNC Official Full Name FLYWCH-type zinc finger 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38033 See related Ensembl:ENSG00000239516 AllianceGenome:HGNC:38033 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FLYWCH2, Official Symbol FLYWCH2provided by HGNC Official Full Name FLYWCH family member 2provided by HGNC Primary source HGNC:HGNC:25178 See related Ensembl:ENSG00000162076 AllianceGenome:HGNC:25178 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 10.8), prostate (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
FMC1, Official Symbol FMC1provided by HGNC Official Full Name formation of mitochondrial complex V assembly factor 1 homologprovided by HGNC Primary source HGNC:HGNC:26946 See related Ensembl:ENSG00000164898 AllianceGenome:HGNC:26946 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C7orf55; HSPC268 Summary Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.0), kidney (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
FMC1-LUC7L2, Official Symbol FMC1-LUC7L2provided by HGNC Official Full Name FMC1-LUC7L2 readthroughprovided by HGNC Primary source HGNC:HGNC:44671 See related Ensembl:ENSG00000269955 AllianceGenome:HGNC:44671 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FMC1; C7orf55; C7orf55-LUC7L2 Summary This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in thyroid (RPKM 38.8), bone marrow (RPKM 34.2) and 25 other tissues See more
FMN1, Official Symbol FMN1provided by HGNC Official Full Name formin 1provided by HGNC Primary source HGNC:HGNC:3768 See related Ensembl:ENSG00000248905 MIM:136535; AllianceGenome:HGNC:3768 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LD; FMN Summary This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015] Expression Broad expression in testis (RPKM 2.4), colon (RPKM 1.7) and 20 other tissues See more Orthologs mouse all
FMN2, Official Symbol FMN2provided by HGNC Official Full Name formin 2provided by HGNC Primary source HGNC:HGNC:14074 See related Ensembl:ENSG00000155816 MIM:606373; AllianceGenome:HGNC:14074 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues See more Orthologs mouse all
FMN2P1, Official Symbol FMN2P1provided by HGNC Official Full Name FMN2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54909 See related Ensembl:ENSG00000231388 AllianceGenome:HGNC:54909 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FMNL1, Official Symbol FMNL1provided by HGNC Official Full Name formin like 1provided by HGNC Primary source HGNC:HGNC:1212 See related Ensembl:ENSG00000184922 MIM:604656; AllianceGenome:HGNC:1212 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FMNL; FHOD4; KW-13; C17orf1; C17orf1B Summary This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 59.8), appendix (RPKM 26.8) and 11 other tissues See more Orthologs mouse all
FMNL1-DT, Official Symbol FMNL1-DTprovided by HGNC Official Full Name FMNL1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55311 See related Ensembl:ENSG00000267121 AllianceGenome:HGNC:55311 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FMNL2, Official Symbol FMNL2provided by HGNC Official Full Name formin like 2provided by HGNC Primary source HGNC:HGNC:18267 See related Ensembl:ENSG00000157827 MIM:616285; AllianceGenome:HGNC:18267 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHOD2 Summary This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 47.7), placenta (RPKM 25.7) and 20 other tissues See more Orthologs mouse all
FMNL3, Official Symbol FMNL3provided by HGNC Official Full Name formin like 3provided by HGNC Primary source HGNC:HGNC:23698 See related Ensembl:ENSG00000161791 MIM:616288; AllianceGenome:HGNC:23698 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FRL2; WBP3; FHOD3; WBP-3 Summary The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 7.5) and 25 other tissues See more Orthologs mouse all