psui3905/ncbi_genes_summary huggingface dataset:
LMNB2, Official Symbol LMNB2provided by HGNC Official Full Name lamin B2provided by HGNC Primary source HGNC:HGNC:6638 See related Ensembl:ENSG00000176619 MIM:150341; AllianceGenome:HGNC:6638 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 EPM9; LMN2; LAMB2; MCPH27 Summary This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012] Expression Ubiquitous expression in placenta (RPKM 13.1), colon (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
LMNTD1, Official Symbol LMNTD1provided by HGNC Official Full Name lamin tail domain containing 1provided by HGNC Primary source HGNC:HGNC:26683 See related Ensembl:ENSG00000152936 MIM:617254; AllianceGenome:HGNC:26683 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 IFLTD1; PAS1C1; LMNARS1 Summary Predicted to act upstream of or within cell population proliferation. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.7) See more Orthologs mouse all
LMNTD2, Official Symbol LMNTD2provided by HGNC Official Full Name lamin tail domain containing 2provided by HGNC Primary source HGNC:HGNC:28561 See related Ensembl:ENSG00000185522 AllianceGenome:HGNC:28561 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 C11orf35 Summary Predicted to be a structural constituent of chromatin. Predicted to be involved in regulation of chromatin assembly. Predicted to act upstream of or within positive regulation of mRNA splicing, via spliceosome. Predicted to be active in lamin filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.4), lung (RPKM 3.1) and 22 other tissues See more Orthologs mouse all
LMNTD2-AS1, Official Symbol LMNTD2-AS1provided by HGNC Official Full Name LMNTD2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41204 See related Ensembl:ENSG00000254815 AllianceGenome:HGNC:41204 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LMO1, Official Symbol LMO1provided by HGNC Official Full Name LIM domain only 1provided by HGNC Primary source HGNC:HGNC:6641 See related Ensembl:ENSG00000166407 MIM:186921; AllianceGenome:HGNC:6641 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 TTG1; RBTN1; RHOM1 Summary This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
LMO2, Official Symbol LMO2provided by HGNC Official Full Name LIM domain only 2provided by HGNC Primary source HGNC:HGNC:6642 See related Ensembl:ENSG00000135363 MIM:180385; AllianceGenome:HGNC:6642 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 TTG2; LMO-2; RBTN2; RHOM2; RBTNL1 Summary LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008] Expression Broad expression in bone marrow (RPKM 14.3), lymph node (RPKM 11.4) and 24 other tissues See more Orthologs mouse all
LMO3, Official Symbol LMO3provided by HGNC Official Full Name LIM domain only 3provided by HGNC Primary source HGNC:HGNC:6643 See related Ensembl:ENSG00000048540 MIM:180386; AllianceGenome:HGNC:6643 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 RBTN3; RHOM3; RBTNL2; Rhom-3 Summary The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in brain (RPKM 41.7), lung (RPKM 13.9) and 7 other tissues See more Orthologs mouse all
LMO4, Official Symbol LMO4provided by HGNC Official Full Name LIM domain only 4provided by HGNC Primary source HGNC:HGNC:6644 See related Ensembl:ENSG00000143013 MIM:603129; AllianceGenome:HGNC:6644 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 cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in brain (RPKM 22.8), stomach (RPKM 12.3) and 24 other tissues See more Orthologs mouse all
LMO7, Official Symbol LMO7provided by HGNC Official Full Name LIM domain 7provided by HGNC Primary source HGNC:HGNC:6646 See related Ensembl:ENSG00000136153 MIM:604362; AllianceGenome:HGNC:6646 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 LOMP; FBX20; LMO7b; FBXO20 Summary This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009] Expression Broad expression in lung (RPKM 43.5), esophagus (RPKM 32.9) and 17 other tissues See more Orthologs mouse all
LMO7-AS1, Official Symbol LMO7-AS1provided by HGNC Official Full Name LMO7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50277 See related Ensembl:ENSG00000261105 AllianceGenome:HGNC:50277 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 UCHL3-AS1 Expression Ubiquitous expression in thyroid (RPKM 3.9), testis (RPKM 2.4) and 25 other tissues See more
LMO7DN, Official Symbol LMO7DNprovided by HGNC Official Full Name LMO7 downstream neighborprovided by HGNC Primary source HGNC:HGNC:44370 See related Ensembl:ENSG00000178734 AllianceGenome:HGNC:44370 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 C13orf45 Expression Low expression observed in reference dataset See more Orthologs all
LMO7DN-IT1, Official Symbol LMO7DN-IT1provided by HGNC Official Full Name LMO7DN intronic transcript 1provided by HGNC Primary source HGNC:HGNC:49790 See related Ensembl:ENSG00000223458 AllianceGenome:HGNC:49790 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 C13orf45-IT1; TCONS_00021569 Expression Low expression observed in reference dataset See more
LMOD1, Official Symbol LMOD1provided by HGNC Official Full Name leiomodin 1provided by HGNC Primary source HGNC:HGNC:6647 See related Ensembl:ENSG00000163431 MIM:602715; AllianceGenome:HGNC:6647 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 1D; D1; 64kD; MMIHS3; SMLMOD; SM-LMOD Summary The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 75.4), prostate (RPKM 68.0) and 18 other tissues See more Orthologs mouse all
LMOD2, Official Symbol LMOD2provided by HGNC Official Full Name leiomodin 2provided by HGNC Primary source HGNC:HGNC:6648 See related Ensembl:ENSG00000170807 MIM:608006; AllianceGenome:HGNC:6648 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 CLMOD; CMD2G; C-LMOD Summary Enables actin monomer binding activity and tropomyosin binding activity. Involved in actin nucleation; positive regulation of actin filament polymerization; and sarcomere organization. Located in actin filament and sarcomere. Colocalizes with M band. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 307.4) See more Orthologs mouse all
LMOD3, Official Symbol LMOD3provided by HGNC Official Full Name leiomodin 3provided by HGNC Primary source HGNC:HGNC:6649 See related Ensembl:ENSG00000163380 MIM:616112; AllianceGenome:HGNC:6649 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 NEM10 Summary The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015] Expression Biased expression in heart (RPKM 44.5), prostate (RPKM 4.8) and 1 other tissue See more Orthologs mouse all
LMTK2, Official Symbol LMTK2provided by HGNC Official Full Name lemur tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:17880 See related Ensembl:ENSG00000164715 MIM:610989; AllianceGenome:HGNC:17880 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 BREK; KPI2; LMR2; cprk; KPI-2; hBREK; AATYK2; PPP1R100 Summary The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in brain (RPKM 11.9), colon (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
LMTK3, Official Symbol LMTK3provided by HGNC Official Full Name lemur tyrosine kinase 3provided by HGNC Primary source HGNC:HGNC:19295 See related Ensembl:ENSG00000142235 MIM:619624; AllianceGenome:HGNC:19295 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 LMR3; TYKLM3; PPP1R101 Summary Predicted to enable protein kinase activity. Predicted to be involved in protein phosphorylation. Predicted to be located in Golgi membrane; axon; and dendrite. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 7.4), duodenum (RPKM 0.9) and 5 other tissues See more Orthologs mouse all
LMX1A, Official Symbol LMX1Aprovided by HGNC Official Full Name LIM homeobox transcription factor 1 alphaprovided by HGNC Primary source HGNC:HGNC:6653 See related Ensembl:ENSG00000162761 MIM:600298; AllianceGenome:HGNC:6653 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 LMX1; DFNA7; LMX1.1 Summary This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
LMX1B, Official Symbol LMX1Bprovided by HGNC Official Full Name LIM homeobox transcription factor 1 betaprovided by HGNC Primary source HGNC:HGNC:6654 See related Ensembl:ENSG00000136944 MIM:602575; AllianceGenome:HGNC:6654 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 NPS1; FSGS10; LMX1.2 Summary This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Biased expression in salivary gland (RPKM 1.8), kidney (RPKM 0.4) and 3 other tissues See more Orthologs mouse all
LNC-LBCS, Official Symbol LNC-LBCSprovided by HGNC Official Full Name lncRNA bladder and prostate cancer suppressor, hnRNPK interactingprovided by HGNC Primary source HGNC:HGNC:54418 See related Ensembl:ENSG00000228412 AllianceGenome:HGNC:54418 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 LBCS Expression Biased expression in thyroid (RPKM 1.7), testis (RPKM 0.9) and 8 other tissues See more
LNCAROD, Official Symbol LNCARODprovided by HGNC Official Full Name lncRNA activating regulator of DKK1provided by HGNC Primary source HGNC:HGNC:50913 See related Ensembl:ENSG00000231131 AllianceGenome:HGNC:50913 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 A-ROD; LINC01468; lnc-MBL2-4 Expression Low expression observed in reference dataset See more
LNCARSR, Official Symbol LNCARSRprovided by HGNC Official Full Name lncRNA regulator of Akt signaling associated with HCC and RCCprovided by HGNC Primary source HGNC:HGNC:53864 See related Ensembl:ENSG00000233086 AllianceGenome:HGNC:53864 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 lnc-TALC Expression Restricted expression toward testis (RPKM 2.2) See more
LNCDAT, Official Symbol LNCDATprovided by HGNC Official Full Name lncRNA divergent activator of TBXTprovided by HGNC Primary source HGNC:HGNC:54855 See related Ensembl:ENSG00000288638 AllianceGenome:HGNC:54855 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 YYLNCT
LNCNEF, Official Symbol LNCNEFprovided by HGNC Official Full Name lncRNA neighboring enhancer of FOXA2provided by HGNC Primary source HGNC:HGNC:50656 See related Ensembl:ENSG00000237396 AllianceGenome:HGNC:50656 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 LINC01384; lncRNA-NEF Expression Low expression observed in reference dataset See more
LNCOC1, Official Symbol LNCOC1provided by HGNC Official Full Name lncRNA associated with ovarian cancer 1provided by HGNC Primary source HGNC:HGNC:53947 See related Ensembl:ENSG00000253741 AllianceGenome:HGNC:53947 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 Lnc-OC1 Expression Biased expression in testis (RPKM 4.6), brain (RPKM 1.4) and 4 other tissues See more
LNCOG, Official Symbol LNCOGprovided by HGNC Official Full Name lncRNA osteogenesis associatedprovided by HGNC Primary source HGNC:HGNC:53336 See related Ensembl:ENSG00000257219 AllianceGenome:HGNC:53336 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 LINC02407; lncRNA-OG Expression Low expression observed in reference dataset See more
LNCPRESS1, Official Symbol LNCPRESS1provided by HGNC Official Full Name lncRNA p53 regulated and ESC associated 1provided by HGNC Primary source HGNC:HGNC:52746 See related Ensembl:ENSG00000232301 AllianceGenome:HGNC:52746 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
LNCRI, Official Symbol LNCRIprovided by HGNC Official Full Name lncRNA radiation induced regulator of PLK1 and RAD51provided by HGNC Primary source HGNC:HGNC:53790 See related AllianceGenome:HGNC:53790 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as lnc-RI Expression Low expression observed in reference dataset See more
LNCSRLR, Official Symbol LNCSRLRprovided by HGNC Official Full Name lncRNA sorafenib resistance in renal cell carcinoma associatedprovided by HGNC Primary source HGNC:HGNC:52753 See related Ensembl:ENSG00000240032 AllianceGenome:HGNC:52753 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 lncRNA-SRLR
LNCTAM34A, Official Symbol LNCTAM34Aprovided by HGNC Official Full Name long non coding transcriptional activator of miR34aprovided by HGNC Primary source HGNC:HGNC:52548 See related Ensembl:ENSG00000234546 AllianceGenome:HGNC:52548 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 GUARDIN; TP53LC18; LINC01759 Expression Broad expression in testis (RPKM 1.1), urinary bladder (RPKM 1.0) and 24 other tissues See more
LNP1, Official Symbol LNP1provided by HGNC Official Full Name leukemia NUP98 fusion partner 1provided by HGNC Primary source HGNC:HGNC:28014 See related Ensembl:ENSG00000206535 AllianceGenome:HGNC:28014 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 NP3 Expression Broad expression in testis (RPKM 17.5), kidney (RPKM 4.6) and 20 other tissues See more Orthologs mouse all
LNPEP, Official Symbol LNPEPprovided by HGNC Official Full Name leucyl and cystinyl aminopeptidaseprovided by HGNC Primary source HGNC:HGNC:6656 See related Ensembl:ENSG00000113441 MIM:151300; AllianceGenome:HGNC:6656 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 CAP; IRAP; PLAP; P-LAP Summary This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 8.2), appendix (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
LNPK, Official Symbol LNPKprovided by HGNC Official Full Name lunapark, ER junction formation factorprovided by HGNC Primary source HGNC:HGNC:21610 See related Ensembl:ENSG00000144320 MIM:610236; AllianceGenome:HGNC:21610 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 Ul; LNP; LNP1; NEDEHCC; KIAA1715; ulnaless Summary Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
LNX1, Official Symbol LNX1provided by HGNC Official Full Name ligand of numb-protein X 1provided by HGNC Primary source HGNC:HGNC:6657 See related Ensembl:ENSG00000072201 MIM:609732; AllianceGenome:HGNC:6657 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 LNX; MPDZ; PDZRN2 Summary This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 10.1), esophagus (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
LNX1-AS1, Official Symbol LNX1-AS1provided by HGNC Official Full Name LNX1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40345 See related Ensembl:ENSG00000250930 AllianceGenome:HGNC:40345 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 1.5) See more
LNX2, Official Symbol LNX2provided by HGNC Official Full Name ligand of numb-protein X 2provided by HGNC Primary source HGNC:HGNC:20421 See related Ensembl:ENSG00000139517 MIM:609733; AllianceGenome:HGNC:20421 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 PDZRN1 Summary Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.5), small intestine (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
LOC105373378, Gene symbol LOC105373378 Gene description uncharacterized LOC105373378 See related Ensembl:ENSG00000063587 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 fat (RPKM 29.3), lung (RPKM 19.4) and 24 other tissues See more
LOC124907803, Gene symbol LOC124907803 Gene description pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial-like 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 Annotation information Annotation category: not annotated on reference assembly
LOC401913, Gene symbol LOC401913 Gene description ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene See related Ensembl:ENSG00000270624 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LOH12CR2, Official Symbol LOH12CR2provided by HGNC Official Full Name loss of heterozygosity on chromosome 12, region 2provided by HGNC Primary source HGNC:HGNC:26524 See related Ensembl:ENSG00000205791 AllianceGenome:HGNC:26524 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 LOH2CR12 Expression Ubiquitous expression in brain (RPKM 2.2), thyroid (RPKM 1.4) and 23 other tissues See more
LONP1, Official Symbol LONP1provided by HGNC Official Full Name lon peptidase 1, mitochondrialprovided by HGNC Primary source HGNC:HGNC:9479 See related Ensembl:ENSG00000196365 MIM:605490; AllianceGenome:HGNC:9479 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 LON; LONP; PIM1; hLON; LonHS; CODASS; PRSS15 Summary This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in adrenal (RPKM 45.5), kidney (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
LONP2, Official Symbol LONP2provided by HGNC Official Full Name lon peptidase 2, peroxisomalprovided by HGNC Primary source HGNC:HGNC:20598 See related Ensembl:ENSG00000102910 MIM:617774; AllianceGenome:HGNC:20598 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 LONP; PLON; LONPL; PSLON Summary In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in thyroid (RPKM 23.1), liver (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
LONRF1, Official Symbol LONRF1provided by HGNC Official Full Name LON peptidase N-terminal domain and ring finger 1provided by HGNC Primary source HGNC:HGNC:26302 See related Ensembl:ENSG00000154359 AllianceGenome:HGNC:26302 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 RNF191 Summary Predicted to enable metal ion binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 19.9), fat (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
LONRF2, Official Symbol LONRF2provided by HGNC Official Full Name LON peptidase N-terminal domain and ring finger 2provided by HGNC Primary source HGNC:HGNC:24788 See related Ensembl:ENSG00000170500 AllianceGenome:HGNC:24788 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 RNF192 Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 18.3), brain (RPKM 16.1) and 10 other tissues See more Orthologs mouse all
LONRF2P1, Official Symbol LONRF2P1provided by HGNC Official Full Name LONRF2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39828 See related Ensembl:ENSG00000266605 AllianceGenome:HGNC:39828 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LONRF2P2, Official Symbol LONRF2P2provided by HGNC Official Full Name LONRF2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39829 See related AllianceGenome:HGNC:39829 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LONRF2P5, Official Symbol LONRF2P5provided by HGNC Official Full Name LONRF2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:54501 See related Ensembl:ENSG00000273692 AllianceGenome:HGNC:54501 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LONRF3, Official Symbol LONRF3provided by HGNC Official Full Name LON peptidase N-terminal domain and ring finger 3provided by HGNC Primary source HGNC:HGNC:21152 See related Ensembl:ENSG00000175556 AllianceGenome:HGNC:21152 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 RNF127 Summary The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 3.2), liver (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
LORICRIN, Official Symbol LORICRINprovided by HGNC Official Full Name loricrin cornified envelope precursor proteinprovided by HGNC Primary source HGNC:HGNC:6663 See related Ensembl:ENSG00000203782 MIM:152445; AllianceGenome:HGNC:6663 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 LOR Summary This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008] Expression Restricted expression toward skin (RPKM 135.8) See more Orthologs mouse all
LOX, Official Symbol LOXprovided by HGNC Official Full Name lysyl oxidaseprovided by HGNC Primary source HGNC:HGNC:6664 See related Ensembl:ENSG00000113083 MIM:153455; AllianceGenome:HGNC:6664 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 AAT10 Summary This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016] Expression Broad expression in fat (RPKM 18.5), gall bladder (RPKM 11.6) and 21 other tissues See more Orthologs mouse all
LOXHD1, Official Symbol LOXHD1provided by HGNC Official Full Name lipoxygenase homology PLAT domains 1provided by HGNC Primary source HGNC:HGNC:26521 See related Ensembl:ENSG00000167210 MIM:613072; AllianceGenome:HGNC:26521 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 LH2D1; DFNB77 Summary This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] Expression Biased expression in testis (RPKM 2.9), bone marrow (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
LOXL1, Official Symbol LOXL1provided by HGNC Official Full Name lysyl oxidase like 1provided by HGNC Primary source HGNC:HGNC:6665 See related Ensembl:ENSG00000129038 MIM:153456; AllianceGenome:HGNC:6665 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 LOL; LOXL Summary This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016] Expression Broad expression in heart (RPKM 6.9), prostate (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
LOXL1-AS1, Official Symbol LOXL1-AS1provided by HGNC Official Full Name LOXL1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44169 See related Ensembl:ENSG00000261801 MIM:616800; AllianceGenome:HGNC:44169 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 thyroid (RPKM 4.0), prostate (RPKM 3.8) and 23 other tissues See more
LOXL2, Official Symbol LOXL2provided by HGNC Official Full Name lysyl oxidase like 2provided by HGNC Primary source HGNC:HGNC:6666 See related Ensembl:ENSG00000134013 MIM:606663; AllianceGenome:HGNC:6666 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 LOR; LOR2; WS9-14 Summary This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 21.2), fat (RPKM 16.1) and 20 other tissues See more Orthologs all
LOXL3, Official Symbol LOXL3provided by HGNC Official Full Name lysyl oxidase like 3provided by HGNC Primary source HGNC:HGNC:13869 See related Ensembl:ENSG00000115318 MIM:607163; AllianceGenome:HGNC:13869 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 LOXL; MYP28 Summary This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in placenta (RPKM 7.6), bone marrow (RPKM 5.2) and 24 other tissues See more Orthologs mouse all
LOXL4, Official Symbol LOXL4provided by HGNC Official Full Name lysyl oxidase like 4provided by HGNC Primary source HGNC:HGNC:17171 See related Ensembl:ENSG00000138131 MIM:607318; AllianceGenome:HGNC:17171 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 LOXC Summary This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 4.0), testis (RPKM 3.7) and 22 other tissues See more Orthologs mouse all
LPA, Official Symbol LPAprovided by HGNC Official Full Name lipoprotein(a)provided by HGNC Primary source HGNC:HGNC:6667 See related Ensembl:ENSG00000198670 MIM:152200; AllianceGenome:HGNC:6667 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 LP; AK38; APOA Summary The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009] Expression Restricted expression toward liver (RPKM 48.1) See more Orthologs all
LPAL2, Official Symbol LPAL2provided by HGNC Official Full Name lipoprotein(a) like 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:21210 See related Ensembl:ENSG00000290613 MIM:611682; AllianceGenome:HGNC:21210 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 APOA2; APOAL; APOARGC; apo(a)rg-C Summary Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Biased expression in liver (RPKM 3.4), testis (RPKM 0.5) and 8 other tissues See more