ENSG00000128617
Homo sapiens | |
Features
| Gene ID: | ENSG00000128617 | | | | | Biological name : | OPN1SW | | | | | Synonyms : | OPN1SW / opsin 1, short wave sensitive / P03999 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | -1 | | Band: | q32.1 | | Gene start: | 128772491 | | Gene end: | 128775790 | | | | | Corresponding Affymetrix probe sets: | 208036_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000249389
NCBI entrez gene - 611
See in Manteia.
OMIM - 613522
RefSeq - NM_001708
RefSeq Peptide - NP_001699
swissprot - P03999
swissprot - Q0PJU0
Ensembl - ENSG00000128617
| | | | | Related genetic diseases (OMIM): | 190900 - Colorblindness, tritan, 190900 |
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)
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:0000552 | Blue-yellow dyschromatopsia | |
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| | HP:0008275 | Abnormal cone-mediated electroretinogram | |
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Interacting proteins (from Reactome)
| ENSG00000186469 | GNG2 / P59768 / G protein subunit gamma 2 | / complex / reaction | | ENSG00000134183 | GNAT2 / P19087 / G protein subunit alpha transducin 2 | / reaction / complex | | ENSG00000128617 | OPN1SW / P03999 / opsin 1, short wave sensitive | / reaction | | ENSG00000078369 | GNB1 / P62873 / G protein subunit beta 1 | / complex / reaction | | ENSG00000102076 | OPN1LW / P04000 / opsin 1, long wave sensitive | / reaction | | ENSG00000163914 | RHO / P08100 / rhodopsin | / reaction | | ENSG00000114349 | GNAT1 / P11488 / G protein subunit alpha transducin 1 | / reaction / complex | | ENSG00000268221 | OPN1MW / P04001 / opsin 1, medium wave sensitive | / reaction |
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