ENSG00000268221
Homo sapiens | |
Features
| Gene ID: | ENSG00000268221 | | | | | Biological name : | OPN1MW | | | | | Synonyms : | OPN1MW / opsin 1, medium wave sensitive / P04001 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | 1 | | Band: | q28 | | Gene start: | 154182596 | | Gene end: | 154196135 | | | | | Corresponding Affymetrix probe sets: | 221327_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000469055
Ensembl peptide - ENSP00000472316
NCBI entrez gene - 2652
See in Manteia.
OMIM - 300821
RefSeq - NM_000513
RefSeq Peptide - NP_000504
swissprot - P04001
swissprot - H0Y642
Ensembl - ENSG00000268221
| | | | | Related genetic diseases (OMIM): | 303700 - Blue cone monochromacy, 303700 | | | 303800 - Colorblindness, deutan, 303800 |
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:0000505 | Impaired vision | |
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| | HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| | HP:0000545 | Myopia | |
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| | HP:0000551 | Abnormal color vision | |
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| | HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0000662 | Night blindness | |
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| | HP:0001131 | Corneal dystrophy | |
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| | HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| | HP:0007663 | Decreased central vision | |
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| | HP:0007703 | Abnormal retinal pigmentation | |
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| | HP:0007939 | Almost complete colorblindness except ability to see blue | |
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| | HP:0008002 | Macular pigmentary changes | |
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| | HP:0011520 | Deuteranomoly | "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson] |
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| | HP:0012043 | Pendular nystagmus | "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000128617 | OPN1SW / P03999 / opsin 1, short wave sensitive | / reaction | | ENSG00000163914 | RHO / P08100 / rhodopsin | / reaction | | ENSG00000102076 | OPN1LW / P04000 / opsin 1, long wave sensitive | / reaction | | ENSG00000078369 | GNB1 / P62873 / G protein subunit beta 1 | / complex / reaction | | ENSG00000114349 | GNAT1 / P11488 / G protein subunit alpha transducin 1 | / reaction / complex | | ENSG00000134183 | GNAT2 / P19087 / G protein subunit alpha transducin 2 | / reaction / complex | | ENSG00000268221 | OPN1MW / P04001 / opsin 1, medium wave sensitive | / reaction | | ENSG00000186469 | GNG2 / P59768 / G protein subunit gamma 2 | / complex / reaction |
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