ENSG00000101850
 Homo sapiens | |
Features
Gene ID: | ENSG00000101850 | | | Biological name : | GPR143 | | | Synonyms : | GPR143 / G protein-coupled receptor 143 / P51810 | | | Possible biological names infered from orthology : | | | | Species: | Homo sapiens | | | Chr. number: | X | Strand: | -1 | Band: | p22.2 | Gene start: | 9725346 | Gene end: | 9786297 | | | Corresponding Affymetrix probe sets: | 206696_at (Human Genome U133 Plus 2.0 Array) | | | Cross references: | Ensembl peptide - ENSP00000406138 Ensembl peptide - ENSP00000417161 Ensembl peptide - ENSP00000390546 NCBI entrez gene - 4935
See in Manteia.
OMIM - 300808 RefSeq - NM_000273 RefSeq - XM_005274541 RefSeq Peptide - NP_000264 swissprot - C9J9N1 swissprot - H7BZN6 swissprot - P51810 Ensembl - ENSG00000101850
| | | Related genetic diseases (OMIM): | 300500 - Ocular albinism, type I, Nettleship-Falls type, 300500 | | 300814 - Nystagmus 6, congenital, X-linked, 300814 | 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) No match
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
HP:0000483 | Astigmatism | |
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| HP:0000484 | Hyperopic astigmatism | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000545 | Myopia | |
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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:0000615 | Abnormality of the pupils | |
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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:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000666 | Nystagmus, horizontal | |
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| HP:0001107 | Ocular albinism | |
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| HP:0001361 | Head nodding | |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001480 | Freckling | |
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| HP:0005592 | Giant melanosomes in melanocytes | |
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| HP:0007680 | Depigmented fundus | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0008069 | Neoplasia of the skin | |
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Interacting proteins (from Reactome) No match
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