ENSG00000213139
Homo sapiens | |
Features
| Gene ID: | ENSG00000213139 | | | | | Biological name : | CRYGS | | | | | Synonyms : | CRYGS / crystallin gamma S / P22914 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | q27.3 | | Gene start: | 186538441 | | Gene end: | 186546702 | | | | | Corresponding Affymetrix probe sets: | 223643_at (Human Genome U133 Plus 2.0 Array) 223644_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000312099
Ensembl peptide - ENSP00000376287
NCBI entrez gene - 1427
See in Manteia.
OMIM - 123730
RefSeq - NM_017541
RefSeq Peptide - NP_060011
swissprot - A0A140CTX8
swissprot - P22914
Ensembl - ENSG00000213139
| | | | | Related genetic diseases (OMIM): | 116100 - Cataract 20, multiple types, 116100 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| | HP:0010922 | Membranous cataract | "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [HPO:probinson, pmid:17539799] |
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Interacting proteins (from Reactome)
No match
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