psui3905/ncbi_genes_summary huggingface dataset:
FUT6, Official Symbol FUT6provided by HGNC Official Full Name fucosyltransferase 6provided by HGNC Primary source HGNC:HGNC:4017 See related Ensembl:ENSG00000156413 MIM:136836; AllianceGenome:HGNC:4017 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 FT1A; FCT3A; Fuc-TVI; FucT-VI Summary The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 17.3), esophagus (RPKM 12.2) and 8 other tissues See more Orthologs all
FUT7, Official Symbol FUT7provided by HGNC Official Full Name fucosyltransferase 7provided by HGNC Primary source HGNC:HGNC:4018 See related Ensembl:ENSG00000180549 MIM:602030; AllianceGenome:HGNC:4018 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 FucT-VII Summary The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 1.7), spleen (RPKM 1.5) and 12 other tissues See more Orthologs mouse all
FUT8, Official Symbol FUT8provided by HGNC Official Full Name fucosyltransferase 8provided by HGNC Primary source HGNC:HGNC:4019 See related Ensembl:ENSG00000033170 MIM:602589; AllianceGenome:HGNC:4019 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 CDGF; CDGF1 Summary This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] Expression Ubiquitous expression in stomach (RPKM 6.3), brain (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
FUT8-AS1, Official Symbol FUT8-AS1provided by HGNC Official Full Name FUT8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44294 See related AllianceGenome:HGNC:44294 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FUT9, Official Symbol FUT9provided by HGNC Official Full Name fucosyltransferase 9provided by HGNC Primary source HGNC:HGNC:4020 See related Ensembl:ENSG00000172461 MIM:606865; AllianceGenome:HGNC:4020 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 Fuc-TIX Summary The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011] Expression Biased expression in brain (RPKM 9.0), stomach (RPKM 7.9) and 2 other tissues See more Orthologs mouse all
FUZ, Official Symbol FUZprovided by HGNC Official Full Name fuzzy planar cell polarity proteinprovided by HGNC Primary source HGNC:HGNC:26219 See related Ensembl:ENSG00000010361 MIM:610622; AllianceGenome:HGNC:26219 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 FY; NTD; CPLANE3 Summary This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] Expression Broad expression in testis (RPKM 12.5), kidney (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
FXN, Official Symbol FXNprovided by HGNC Official Full Name frataxinprovided by HGNC Primary source HGNC:HGNC:3951 See related Ensembl:ENSG00000165060 MIM:606829; AllianceGenome:HGNC:3951 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 FA; X25; CyaY; FARR; FRDA Summary This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in liver (RPKM 1.7), adrenal (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
FXNP2, Official Symbol FXNP2provided by HGNC Official Full Name frataxin pseudogene 2provided by HGNC Primary source HGNC:HGNC:51607 See related Ensembl:ENSG00000177736 AllianceGenome:HGNC:51607 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FXR1, Official Symbol FXR1provided by HGNC Official Full Name FMR1 autosomal homolog 1provided by HGNC Primary source HGNC:HGNC:4023 See related Ensembl:ENSG00000114416 MIM:600819; AllianceGenome:HGNC:4023 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 FXR1P; CMYP9A; CMYP9B; MYOPMIL; MYORIBF Summary The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 27.2), ovary (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
FXR2, Official Symbol FXR2provided by HGNC Official Full Name FMR1 autosomal homolog 2provided by HGNC Primary source HGNC:HGNC:4024 See related Ensembl:ENSG00000129245 MIM:605339; AllianceGenome:HGNC:4024 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 FXR2P; FMR1L2 Summary The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 19.4), testis (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
FXYD1, Official Symbol FXYD1provided by HGNC Official Full Name FXYD domain containing ion transport regulator 1provided by HGNC Primary source HGNC:HGNC:4025 See related Ensembl:ENSG00000266964 MIM:602359; AllianceGenome:HGNC:4025 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 PLM Summary This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 47.5), heart (RPKM 45.3) and 14 other tissues See more Orthologs mouse all
FXYD2, Official Symbol FXYD2provided by HGNC Official Full Name FXYD domain containing ion transport regulator 2provided by HGNC Primary source HGNC:HGNC:4026 See related Ensembl:ENSG00000137731 MIM:601814; AllianceGenome:HGNC:4026 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 HOMG2; ATP1G1 Summary This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011] Expression Biased expression in kidney (RPKM 585.7), gall bladder (RPKM 107.1) and 2 other tissues See more Orthologs mouse all
FXYD3, Official Symbol FXYD3provided by HGNC Official Full Name FXYD domain containing ion transport regulator 3provided by HGNC Primary source HGNC:HGNC:4027 See related Ensembl:ENSG00000089356 MIM:604996; AllianceGenome:HGNC:4027 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 MAT8; PLML Summary This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] Expression Biased expression in colon (RPKM 158.8), stomach (RPKM 51.0) and 10 other tissues See more Orthologs mouse all
FXYD4, Official Symbol FXYD4provided by HGNC Official Full Name FXYD domain containing ion transport regulator 4provided by HGNC Primary source HGNC:HGNC:4028 See related Ensembl:ENSG00000150201 MIM:616926; AllianceGenome:HGNC:4028 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 CHIF Summary This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010] Expression Restricted expression toward kidney (RPKM 55.0) See more Orthologs mouse all
FXYD5, Official Symbol FXYD5provided by HGNC Official Full Name FXYD domain containing ion transport regulator 5provided by HGNC Primary source HGNC:HGNC:4029 See related Ensembl:ENSG00000089327 MIM:606669; AllianceGenome:HGNC:4029 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 RIC; IWU1; KCT1; OIT2; DYSAD; HSPC113; PRO6241 Summary This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009] Expression Broad expression in spleen (RPKM 43.4), bone marrow (RPKM 43.0) and 24 other tissues See more Orthologs mouse all
FXYD6, Official Symbol FXYD6provided by HGNC Official Full Name FXYD domain containing ion transport regulator 6provided by HGNC Primary source HGNC:HGNC:4030 See related Ensembl:ENSG00000137726 MIM:606683; AllianceGenome:HGNC:4030 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 FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011] Expression Broad expression in brain (RPKM 186.7), ovary (RPKM 91.7) and 16 other tissues See more Orthologs mouse all
FXYD6-FXYD2, Official Symbol FXYD6-FXYD2provided by HGNC Official Full Name FXYD6-FXYD2 readthroughprovided by HGNC Primary source HGNC:HGNC:39978 See related Ensembl:ENSG00000255245 AllianceGenome:HGNC:39978 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 FXYD6 Summary This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while another read-through transcript encodes a protein that has a distinct C-terminus and only shares sequence identity with the upstream locus (GeneID 53826). [provided by RefSeq, Aug 2011] Expression Biased expression in kidney (RPKM 274.3), brain (RPKM 65.1) and 6 other tissues See more
FXYD7, Official Symbol FXYD7provided by HGNC Official Full Name FXYD domain containing ion transport regulator 7provided by HGNC Primary source HGNC:HGNC:4034 See related Ensembl:ENSG00000221946 MIM:606684; AllianceGenome:HGNC:4034 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 reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000] Expression Biased expression in brain (RPKM 25.1) and spleen (RPKM 0.7) See more Orthologs mouse all
FYB1, Official Symbol FYB1provided by HGNC Official Full Name FYN binding protein 1provided by HGNC Primary source HGNC:HGNC:4036 See related Ensembl:ENSG00000082074 MIM:602731; AllianceGenome:HGNC:4036 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 FYB; ADAP; THC3; PRO0823; SLAP130; SLAP-130 Summary The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] Expression Broad expression in appendix (RPKM 36.5), lymph node (RPKM 32.7) and 15 other tissues See more Orthologs mouse all
FYB2, Official Symbol FYB2provided by HGNC Official Full Name FYN binding protein 2provided by HGNC Primary source HGNC:HGNC:27295 See related Ensembl:ENSG00000187889 MIM:618478; AllianceGenome:HGNC:27295 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 ARAP; C1orf168 Summary Involved in T cell receptor signaling pathway and cell adhesion mediated by integrin. Located in immunological synapse and membrane raft. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 2.0), kidney (RPKM 0.9) and 12 other tissues See more Orthologs mouse all
FYCO1, Official Symbol FYCO1provided by HGNC Official Full Name FYVE and coiled-coil domain autophagy adaptor 1provided by HGNC Primary source HGNC:HGNC:14673 See related Ensembl:ENSG00000163820 MIM:607182; AllianceGenome:HGNC:14673 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 CATC2; RUFY3; ZFYVE7; CTRCT18 Summary The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in heart (RPKM 22.7), endometrium (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
FYN, Official Symbol FYNprovided by HGNC Official Full Name FYN proto-oncogene, Src family tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:4037 See related Ensembl:ENSG00000010810 MIM:137025; AllianceGenome:HGNC:4037 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 SLK; SYN; p59-FYN Summary This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 36.8), lymph node (RPKM 29.8) and 23 other tissues See more Orthologs mouse all
FYTTD1, Official Symbol FYTTD1provided by HGNC Official Full Name forty-two-three domain containing 1provided by HGNC Primary source HGNC:HGNC:25407 See related Ensembl:ENSG00000122068 MIM:616933; AllianceGenome:HGNC:25407 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 UIF Summary Enables mRNA binding activity. Involved in mRNA export from nucleus. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 31.0), esophagus (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
FYTTD1P1, Official Symbol FYTTD1P1provided by HGNC Official Full Name forty-two-three domain containing 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38035 See related AllianceGenome:HGNC:38035 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FZD1, Official Symbol FZD1provided by HGNC Official Full Name frizzled class receptor 1provided by HGNC Primary source HGNC:HGNC:4038 See related Ensembl:ENSG00000157240 MIM:603408; AllianceGenome:HGNC:4038 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 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008] Orthologs mouse all
FZD10, Official Symbol FZD10provided by HGNC Official Full Name frizzled class receptor 10provided by HGNC Primary source HGNC:HGNC:4039 See related Ensembl:ENSG00000111432 MIM:606147; AllianceGenome:HGNC:4039 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 Fz10; FzE7; CD350; FZ-10; hFz10 Summary This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008] Orthologs mouse all
FZD10-AS1, Official Symbol FZD10-AS1provided by HGNC Official Full Name FZD10 antisense divergent transcriptprovided by HGNC Primary source HGNC:HGNC:48632 See related Ensembl:ENSG00000250208 AllianceGenome:HGNC:48632 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 FZD10-DT Expression Broad expression in endometrium (RPKM 2.0), prostate (RPKM 1.6) and 21 other tissues See more
FZD2, Official Symbol FZD2provided by HGNC Official Full Name frizzled class receptor 2provided by HGNC Primary source HGNC:HGNC:4040 See related Ensembl:ENSG00000180340 MIM:600667; AllianceGenome:HGNC:4040 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 Fz2; fz-2; fzE2; hFz2; OMOD2 Summary This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010] Orthologs mouse all
FZD3, Official Symbol FZD3provided by HGNC Official Full Name frizzled class receptor 3provided by HGNC Primary source HGNC:HGNC:4041 See related Ensembl:ENSG00000104290 MIM:606143; AllianceGenome:HGNC:4041 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 Fz-3 Summary This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] Expression Broad expression in brain (RPKM 6.0), ovary (RPKM 2.6) and 18 other tissues See more Orthologs mouse all
FZD4, Official Symbol FZD4provided by HGNC Official Full Name frizzled class receptor 4provided by HGNC Primary source HGNC:HGNC:4042 See related Ensembl:ENSG00000174804 MIM:604579; AllianceGenome:HGNC:4042 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 Fz4; EVR1; FEVR; Fz-4; FzE4; GPCR; hFz4; CD344; FZD4S Summary This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 98.6), kidney (RPKM 18.6) and 14 other tissues See more Orthologs mouse all
FZD4-DT, Official Symbol FZD4-DTprovided by HGNC Official Full Name FZD4 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54219 See related Ensembl:ENSG00000246523 AllianceGenome:HGNC:54219 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 fat (RPKM 1.7), heart (RPKM 1.4) and 18 other tissues See more
FZD5, Official Symbol FZD5provided by HGNC Official Full Name frizzled class receptor 5provided by HGNC Primary source HGNC:HGNC:4043 See related Ensembl:ENSG00000163251 MIM:601723; AllianceGenome:HGNC:4043 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 HFZ5; C2orf31 Summary Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 15.4), duodenum (RPKM 10.5) and 19 other tissues See more Orthologs mouse all
FZD6, Official Symbol FZD6provided by HGNC Official Full Name frizzled class receptor 6provided by HGNC Primary source HGNC:HGNC:4044 See related Ensembl:ENSG00000164930 MIM:603409; AllianceGenome:HGNC:4044 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 FZ6; FZ-6; HFZ6; NDNC1; NDNC10 Summary This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 15.4), lung (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
FZD7, Official Symbol FZD7provided by HGNC Official Full Name frizzled class receptor 7provided by HGNC Primary source HGNC:HGNC:4045 See related Ensembl:ENSG00000155760 MIM:603410; AllianceGenome:HGNC:4045 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 FzE3 Summary Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008] Orthologs mouse all
FZD8, Official Symbol FZD8provided by HGNC Official Full Name frizzled class receptor 8provided by HGNC Primary source HGNC:HGNC:4046 See related Ensembl:ENSG00000177283 MIM:606146; AllianceGenome:HGNC:4046 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 FZ-8; hFZ8 Summary This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008] Orthologs mouse all
FZD9, Official Symbol FZD9provided by HGNC Official Full Name frizzled class receptor 9provided by HGNC Primary source HGNC:HGNC:4047 See related Ensembl:ENSG00000188763 MIM:601766; AllianceGenome:HGNC:4047 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 FZD3; CD349 Summary Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008] Orthologs mouse all
FZR1, Official Symbol FZR1provided by HGNC Official Full Name fizzy and cell division cycle 20 related 1provided by HGNC Primary source HGNC:HGNC:24824 See related Ensembl:ENSG00000105325 MIM:603619; AllianceGenome:HGNC:24824 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 FZR; CDH1; FZR2; HCDH; HCDH1; CDC20C; DEE109 Summary Predicted to enable anaphase-promoting complex binding activity and ubiquitin ligase activator activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of protein metabolic process. Located in nuclear membrane and nucleoplasm. Colocalizes with anaphase-promoting complex. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: CDH1 (GeneID 999) and FZR1 (GeneID 51343) share the CDH1 symbol. CDH1 is sometimes used as an abbreviation for 'CDC20 homolog 1' which is an alternate name for the FZR1 gene and thus can be confused with the official symbol for cadherin 1 (CDH1). [16 Jul 2018] Expression Ubiquitous expression in testis (RPKM 11.7), bone marrow (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
G0S2, Official Symbol G0S2provided by HGNC Official Full Name G0/G1 switch 2provided by HGNC Primary source HGNC:HGNC:30229 See related Ensembl:ENSG00000123689 MIM:614447; AllianceGenome:HGNC:30229 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 Involved in extrinsic apoptotic signaling pathway and positive regulation of extrinsic apoptotic signaling pathway. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 569.0), bone marrow (RPKM 395.4) and 4 other tissues See more Orthologs mouse all
G2E3, Official Symbol G2E3provided by HGNC Official Full Name G2/M-phase specific E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:20338 See related Ensembl:ENSG00000092140 MIM:611299; AllianceGenome:HGNC:20338 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 PHF7B; KIAA1333 Summary Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in apoptotic process and protein ubiquitination. Predicted to act upstream of or within blastocyst development; negative regulation of intrinsic apoptotic signaling pathway; and protein polyubiquitination. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.5), lymph node (RPKM 4.4) and 24 other tissues See more Orthologs mouse all
G2E3-AS1, Official Symbol G2E3-AS1provided by HGNC Official Full Name G2E3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53463 See related Ensembl:ENSG00000257636 AllianceGenome:HGNC:53463 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 CAT1647; lincPRKD Expression Low expression observed in reference dataset See more
G3BP1, Official Symbol G3BP1provided by HGNC Official Full Name G3BP stress granule assembly factor 1provided by HGNC Primary source HGNC:HGNC:30292 See related Ensembl:ENSG00000145907 MIM:608431; AllianceGenome:HGNC:30292 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 G3BP; HDH-VIII Summary This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. 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, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 18.3), appendix (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
G3BP1P1, Official Symbol G3BP1P1provided by HGNC Official Full Name G3BP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54590 See related Ensembl:ENSG00000235651 AllianceGenome:HGNC:54590 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
G3BP2, Official Symbol G3BP2provided by HGNC Official Full Name G3BP stress granule assembly factor 2provided by HGNC Primary source HGNC:HGNC:30291 See related Ensembl:ENSG00000138757 MIM:620020; AllianceGenome:HGNC:30291 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. Involved in positive regulation of stress granule assembly and protein homooligomerization. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 45.6), thyroid (RPKM 35.2) and 25 other tissues See more Orthologs mouse all
G6PC1, Official Symbol G6PC1provided by HGNC Official Full Name glucose-6-phosphatase catalytic subunit 1provided by HGNC Primary source HGNC:HGNC:4056 See related Ensembl:ENSG00000131482 MIM:613742; AllianceGenome:HGNC:4056 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 G6PC; G6PT; GSD1; GSD1a; G6Pase Summary Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011] Expression Biased expression in liver (RPKM 48.0), kidney (RPKM 22.9) and 2 other tissues See more Orthologs mouse all
G6PC2, Official Symbol G6PC2provided by HGNC Official Full Name glucose-6-phosphatase catalytic subunit 2provided by HGNC Primary source HGNC:HGNC:28906 See related Ensembl:ENSG00000152254 MIM:608058; AllianceGenome:HGNC:28906 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 IGRP Summary This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 3.9), testis (RPKM 0.4) and 1 other tissue See more Orthologs mouse all
G6PC3, Official Symbol G6PC3provided by HGNC Official Full Name glucose-6-phosphatase catalytic subunit 3provided by HGNC Primary source HGNC:HGNC:24861 See related Ensembl:ENSG00000141349 MIM:611045; AllianceGenome:HGNC:24861 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 SCN4; UGRP Summary This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in thyroid (RPKM 23.0), kidney (RPKM 18.2) and 25 other tissues See more Orthologs mouse all
G6PD, Official Symbol G6PDprovided by HGNC Official Full Name glucose-6-phosphate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:4057 See related Ensembl:ENSG00000160211 MIM:305900; AllianceGenome:HGNC:4057 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 G6PD1 Summary This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 38.1), bone marrow (RPKM 27.2) and 23 other tissues See more Orthologs mouse all