psui3905/ncbi_genes_summary huggingface dataset:
CRISP3, Official Symbol CRISP3provided by HGNC Official Full Name cysteine rich secretory protein 3provided by HGNC Primary source HGNC:HGNC:16904 See related Ensembl:ENSG00000096006 MIM:618062; AllianceGenome:HGNC:16904 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 Aeg2; CRS3; SGP28; CRISP-3; dJ442L6.3 Summary This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Biased expression in salivary gland (RPKM 504.8), bone marrow (RPKM 138.4) and 1 other tissue See more Orthologs all
CRISPLD1, Official Symbol CRISPLD1provided by HGNC Official Full Name cysteine rich secretory protein LCCL domain containing 1provided by HGNC Primary source HGNC:HGNC:18206 See related Ensembl:ENSG00000121005 AllianceGenome:HGNC:18206 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 CRISP10; LCRISP1; CRISP-10 Summary Involved in face morphogenesis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 14.1), thyroid (RPKM 6.1) and 15 other tissues See more Orthologs mouse all
CRISPLD2, Official Symbol CRISPLD2provided by HGNC Official Full Name cysteine rich secretory protein LCCL domain containing 2provided by HGNC Primary source HGNC:HGNC:25248 See related Ensembl:ENSG00000103196 MIM:612434; AllianceGenome:HGNC:25248 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 LGL1; CRISP11; LCRISP2 Summary Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 67.9), placenta (RPKM 54.3) and 20 other tissues See more Orthologs mouse all
CRK, Official Symbol CRKprovided by HGNC Official Full Name CRK proto-oncogene, adaptor proteinprovided by HGNC Primary source HGNC:HGNC:2362 See related Ensembl:ENSG00000167193 MIM:164762; AllianceGenome:HGNC:2362 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 p38; CRKII Summary This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 27.5), thyroid (RPKM 27.2) and 25 other tissues See more Orthologs mouse all
CRKL, Official Symbol CRKLprovided by HGNC Official Full Name CRK like proto-oncogene, adaptor proteinprovided by HGNC Primary source HGNC:HGNC:2363 See related Ensembl:ENSG00000099942 MIM:602007; AllianceGenome:HGNC:2363 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 protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in brain (RPKM 22.4), bone marrow (RPKM 22.0) and 25 other tissues See more Orthologs mouse all
CRLF1, Official Symbol CRLF1provided by HGNC Official Full Name cytokine receptor like factor 1provided by HGNC Primary source HGNC:HGNC:2364 See related Ensembl:ENSG00000006016 MIM:604237; AllianceGenome:HGNC:2364 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 CLF; NR6; CISS; CISS1; CLF-1; zcytor5 Summary This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009] Expression Broad expression in placenta (RPKM 4.8), brain (RPKM 3.2) and 15 other tissues See more Orthologs mouse all
CRLF2, Official Symbol CRLF2provided by HGNC Official Full Name cytokine receptor like factor 2provided by HGNC Primary source HGNC:HGNC:14281 See related Ensembl:ENSG00000205755 Ensembl:ENSG00000292363 MIM:300357; MIM:400023; AllianceGenome:HGNC:14281 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 CRL2; TSLPR; CRLF2Y Summary This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRLF3, Official Symbol CRLF3provided by HGNC Official Full Name cytokine receptor like factor 3provided by HGNC Primary source HGNC:HGNC:17177 See related Ensembl:ENSG00000176390 MIM:614853; AllianceGenome:HGNC:17177 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 FRWS; CRLM9; p48.2; CREME9; CYTOR4; CREME-9 Summary This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012] Expression Broad expression in lymph node (RPKM 15.5), appendix (RPKM 12.1) and 24 other tissues See more Orthologs mouse all
CRLS1, Official Symbol CRLS1provided by HGNC Official Full Name cardiolipin synthase 1provided by HGNC Primary source HGNC:HGNC:16148 See related Ensembl:ENSG00000088766 MIM:608188; AllianceGenome:HGNC:16148 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 CLS; CLS1; GCD10; COSPD57; C20orf155; dJ967N21.6 Summary This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in liver (RPKM 13.5), lung (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
CRMP1, Official Symbol CRMP1provided by HGNC Official Full Name collapsin response mediator protein 1provided by HGNC Primary source HGNC:HGNC:2365 See related Ensembl:ENSG00000072832 MIM:602462; AllianceGenome:HGNC:2365 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 DRP1; DRP-1; CRMP-1; DPYSL1; ULIP-3 Summary This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 34.7), endometrium (RPKM 8.3) and 8 other tissues See more Orthologs mouse all
CRNDE, Official Symbol CRNDEprovided by HGNC Official Full Name colorectal neoplasia differentially expressedprovided by HGNC Primary source HGNC:HGNC:37078 See related Ensembl:ENSG00000245694 MIM:615624; AllianceGenome:HGNC:37078 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 CRNDEP; PNAS-108; lincIRX5; LINC00180; NCRNA00180 Summary This gene is transcribed into multiple transcript variants, some of which may function as non-coding RNAs. One of the transcript variants encodes a putative short protein that is localized to the nucleus (PMID:25978564). Expression of this locus is increased in proliferating tissues, including certain tumors such as colorectal adenomas and adenocarcinomas. Transcription from this gene is negatively regulated by insulin and insulin-like growth factors, and may regulate the expression of genes involved in metabolism. [provided by RefSeq, May 2015] Expression Biased expression in testis (RPKM 14.7), lung (RPKM 2.1) and 8 other tissues See more Orthologs mouse all
CRNKL1, Official Symbol CRNKL1provided by HGNC Official Full Name crooked neck pre-mRNA splicing factor 1provided by HGNC Primary source HGNC:HGNC:15762 See related Ensembl:ENSG00000101343 MIM:610952; AllianceGenome:HGNC:15762 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 CLF; CRN; Clf1; HCRN; SYF3; MSTP021 Summary The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in bone marrow (RPKM 8.6), testis (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
CRNN, Official Symbol CRNNprovided by HGNC Official Full Name cornulinprovided by HGNC Primary source HGNC:HGNC:1230 See related Ensembl:ENSG00000143536 MIM:611312; AllianceGenome:HGNC:1230 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 DRC1; PDRC1; SEP53; C1orf10 Summary This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009] Expression Restricted expression toward esophagus (RPKM 2138.4) See more Orthologs mouse all
CROCC, Official Symbol CROCCprovided by HGNC Official Full Name ciliary rootlet coiled-coil, rootletinprovided by HGNC Primary source HGNC:HGNC:21299 See related Ensembl:ENSG00000058453 MIM:615776; AllianceGenome:HGNC:21299 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 ROLT; CROCC1; TAX1BP2 Summary Predicted to enable kinesin binding activity and structural molecule activity. Involved in several processes, including centriole-centriole cohesion; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
CROCC2, Official Symbol CROCC2provided by HGNC Official Full Name ciliary rootlet coiled-coil, rootletin family member 2provided by HGNC Primary source HGNC:HGNC:51677 See related Ensembl:ENSG00000226321 AllianceGenome:HGNC:51677 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 Expression Biased expression in spleen (RPKM 1.3), lung (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
CROCCP1, Official Symbol CROCCP1provided by HGNC Official Full Name CROCC pseudogene 1provided by HGNC Primary source HGNC:HGNC:33602 See related Ensembl:ENSG00000225769 AllianceGenome:HGNC:33602 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CROCCP
CROCCP3, Official Symbol CROCCP3provided by HGNC Official Full Name CROCC pseudogene 3provided by HGNC Primary source HGNC:HGNC:29405 See related Ensembl:ENSG00000290842 AllianceGenome:HGNC:29405 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 CROCCL2; dJ798A10.2 Summary Predicted to be involved in centrosome cycle. Predicted to be located in ciliary rootlet. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 1.6), ovary (RPKM 1.5) and 24 other tissues See more
CROCCP4, Official Symbol CROCCP4provided by HGNC Official Full Name CROCC pseudogene 4provided by HGNC Primary source HGNC:HGNC:43864 See related Ensembl:ENSG00000227684 AllianceGenome:HGNC:43864 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CROT, Official Symbol CROTprovided by HGNC Official Full Name carnitine O-octanoyltransferaseprovided by HGNC Primary source HGNC:HGNC:2366 See related Ensembl:ENSG00000005469 MIM:606090; AllianceGenome:HGNC:2366 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 COT Summary This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in thyroid (RPKM 12.0), urinary bladder (RPKM 8.5) and 22 other tissues See more Orthologs mouse all
CRP, Official Symbol CRPprovided by HGNC Official Full Name C-reactive proteinprovided by HGNC Primary source HGNC:HGNC:2367 See related Ensembl:ENSG00000132693 MIM:123260; AllianceGenome:HGNC:2367 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 PTX1 Summary The protein encoded by this gene belongs to the pentraxin family which also includes serum amyloid P component protein and pentraxin 3. Pentraxins are involved in complement activation and amplification via communication with complement initiation pattern recognition molecules, but also complement regulation via recruitment of complement regulators. The encoded protein has a calcium dependent ligand binding domain with a distinctive flattened beta-jellyroll structure. It exists in two forms as either a pentamer in circulation or as a nonsoluble monomer in tissues. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS&#8208;CoV&#8208;2) infection. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Restricted expression toward liver (RPKM 456.5) See more Orthologs mouse all
CRPP1, Official Symbol CRPP1provided by HGNC Official Full Name C-reactive protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:2368 See related Ensembl:ENSG00000223603 AllianceGenome:HGNC:2368 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CRPPA, Official Symbol CRPPAprovided by HGNC Official Full Name CDP-L-ribitol pyrophosphorylase Aprovided by HGNC Primary source HGNC:HGNC:37276 See related Ensembl:ENSG00000214960 MIM:614631; AllianceGenome:HGNC:37276 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 Nip; ISPD; hISPD; MDDGA7; MDDGC7; LGMDR20 Summary This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRPPA-AS1, Official Symbol CRPPA-AS1provided by HGNC Official Full Name CRPPA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48962 See related Ensembl:ENSG00000229688 AllianceGenome:HGNC:48962 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 ISPD-AS1 Expression Restricted expression toward testis (RPKM 5.1) See more
CRTAC1, Official Symbol CRTAC1provided by HGNC Official Full Name cartilage acidic protein 1provided by HGNC Primary source HGNC:HGNC:14882 See related Ensembl:ENSG00000095713 MIM:606276; AllianceGenome:HGNC:14882 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 ASPIC; CEP68; LOTUS; ASPIC1; CEP-68 Summary This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Biased expression in lung (RPKM 23.3), brain (RPKM 10.1) and 5 other tissues See more Orthologs mouse all
CRTAM, Official Symbol CRTAMprovided by HGNC Official Full Name cytotoxic and regulatory T cell moleculeprovided by HGNC Primary source HGNC:HGNC:24313 See related Ensembl:ENSG00000109943 MIM:612597; AllianceGenome:HGNC:24313 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 CD355 Summary The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009] Expression Biased expression in lymph node (RPKM 4.2), spleen (RPKM 1.7) and 11 other tissues See more Orthologs mouse all
CRTAP, Official Symbol CRTAPprovided by HGNC Official Full Name cartilage associated proteinprovided by HGNC Primary source HGNC:HGNC:2379 See related Ensembl:ENSG00000170275 MIM:605497; AllianceGenome:HGNC:2379 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 OI7; CASP; P3H5; LEPREL3 Summary The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 41.9), ovary (RPKM 29.9) and 24 other tissues See more Orthologs mouse all
CRTC1, Official Symbol CRTC1provided by HGNC Official Full Name CREB regulated transcription coactivator 1provided by HGNC Primary source HGNC:HGNC:16062 See related Ensembl:ENSG00000105662 MIM:607536; AllianceGenome:HGNC:16062 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 MAML2; MECT1; Mam-2; TORC1; TORC-1; WAMTP1 Summary Enables cAMP response element binding protein binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.7), testis (RPKM 2.0) and 24 other tissues See more Orthologs mouse all
CRTC1P1, Official Symbol CRTC1P1provided by HGNC Official Full Name CRTC1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54616 See related Ensembl:ENSG00000204993 AllianceGenome:HGNC:54616 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CRTC2, Official Symbol CRTC2provided by HGNC Official Full Name CREB regulated transcription coactivator 2provided by HGNC Primary source HGNC:HGNC:27301 See related Ensembl:ENSG00000160741 MIM:608972; AllianceGenome:HGNC:27301 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 TORC2; TORC-2 Summary This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in spleen (RPKM 17.9), bone marrow (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
CRTC3, Official Symbol CRTC3provided by HGNC Official Full Name CREB regulated transcription coactivator 3provided by HGNC Primary source HGNC:HGNC:26148 See related Ensembl:ENSG00000140577 MIM:608986; AllianceGenome:HGNC:26148 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 TORC3; TORC-3 Summary This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in ovary (RPKM 20.6), fat (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
CRTC3-AS1, Official Symbol CRTC3-AS1provided by HGNC Official Full Name CRTC3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51433 See related Ensembl:ENSG00000259736 AllianceGenome:HGNC:51433 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 ovary (RPKM 3.5), testis (RPKM 2.6) and 25 other tissues See more
CRX, Official Symbol CRXprovided by HGNC Official Full Name cone-rod homeoboxprovided by HGNC Primary source HGNC:HGNC:2383 See related Ensembl:ENSG00000105392 MIM:602225; AllianceGenome:HGNC:2383 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 CRD; LCA7; OTX3; CORD2 Summary The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRY1, Official Symbol CRY1provided by HGNC Official Full Name cryptochrome circadian regulator 1provided by HGNC Primary source HGNC:HGNC:2384 See related Ensembl:ENSG00000008405 MIM:601933; AllianceGenome:HGNC:2384 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 DSPD; PHLL1 Summary This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014] Expression Broad expression in testis (RPKM 23.5), thyroid (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
CRY2, Official Symbol CRY2provided by HGNC Official Full Name cryptochrome circadian regulator 2provided by HGNC Primary source HGNC:HGNC:2385 See related Ensembl:ENSG00000121671 MIM:603732; AllianceGenome:HGNC:2385 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 HCRY2; PHLL2 Summary This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in heart (RPKM 24.1), brain (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
CRYAA, Official Symbol CRYAAprovided by HGNC Official Full Name crystallin alpha Aprovided by HGNC Primary source HGNC:HGNC:2388 See related Ensembl:ENSG00000160202 MIM:123580; AllianceGenome:HGNC:2388 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 CRYA1; HSPB4; CTRCT9 Summary Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014] Expression Restricted expression toward kidney (RPKM 43.9) See more Orthologs mouse all
CRYAB, Official Symbol CRYABprovided by HGNC Official Full Name crystallin alpha Bprovided by HGNC Primary source HGNC:HGNC:2389 See related Ensembl:ENSG00000109846 MIM:123590; AllianceGenome:HGNC:2389 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 MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101 Summary Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019] Expression Biased expression in heart (RPKM 784.6), brain (RPKM 268.6) and 5 other tissues See more Orthologs mouse all
CRYBA1, Official Symbol CRYBA1provided by HGNC Official Full Name crystallin beta A1provided by HGNC Primary source HGNC:HGNC:2394 See related Ensembl:ENSG00000108255 MIM:123610; AllianceGenome:HGNC:2394 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 CRYB1; CTRCT10 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRYBA2, Official Symbol CRYBA2provided by HGNC Official Full Name crystallin beta A2provided by HGNC Primary source HGNC:HGNC:2395 See related Ensembl:ENSG00000163499 MIM:600836; AllianceGenome:HGNC:2395 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 CTRCT42 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 2.2), adrenal (RPKM 1.3) and 6 other tissues See more Orthologs mouse all
CRYBA4, Official Symbol CRYBA4provided by HGNC Official Full Name crystallin beta A4provided by HGNC Primary source HGNC:HGNC:2396 See related Ensembl:ENSG00000196431 MIM:123631; AllianceGenome:HGNC:2396 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 CYRBA4; CTRCT23; MCOPCT4 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRYBB1, Official Symbol CRYBB1provided by HGNC Official Full Name crystallin beta B1provided by HGNC Primary source HGNC:HGNC:2397 See related Ensembl:ENSG00000100122 MIM:600929; AllianceGenome:HGNC:2397 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 CATCN3; CTRCT17 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other tissues See more Orthologs mouse all
CRYBB2, Official Symbol CRYBB2provided by HGNC Official Full Name crystallin beta B2provided by HGNC Primary source HGNC:HGNC:2398 See related Ensembl:ENSG00000244752 MIM:123620; AllianceGenome:HGNC:2398 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 CCA2; CRYB2; CRYB2A; CTRCT3; D22S665 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRYBB3, Official Symbol CRYBB3provided by HGNC Official Full Name crystallin beta B3provided by HGNC Primary source HGNC:HGNC:2400 See related Ensembl:ENSG00000100053 MIM:123630; AllianceGenome:HGNC:2400 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 CRYB3; CATCN2; CTRCT22 Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
CRYBG1, Official Symbol CRYBG1provided by HGNC Official Full Name crystallin beta-gamma domain containing 1provided by HGNC Primary source HGNC:HGNC:356 See related Ensembl:ENSG00000112297 MIM:601797; AllianceGenome:HGNC:356 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 ST4; AIM1 Summary Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 35.8), skin (RPKM 27.1) and 19 other tissues See more Orthologs mouse all