ENSG00000113262
Homo sapiens | |
Features
| Gene ID: | ENSG00000113262 | | | | | Biological name : | GRM6 | | | | | Synonyms : | glutamate metabotropic receptor 6 / GRM6 / O15303 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | q35.3 | | Gene start: | 178978327 | | Gene end: | 178996206 | | | | | Corresponding Affymetrix probe sets: | 208035_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000430767
Ensembl peptide - ENSP00000231188
NCBI entrez gene - 2916
See in Manteia.
OMIM - 604096
RefSeq - NM_000843
RefSeq Peptide - NP_000834
swissprot - O15303
Ensembl - ENSG00000113262
| | | | | Related genetic diseases (OMIM): | 257270 - Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 |
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)
| IPR000112 | GPCR, family 3, metabotropic glutamate receptor 6 | | IPR000162 | GPCR, family 3, metabotropic glutamate receptor | | IPR000337 | GPCR, family 3 | | IPR001828 | Receptor, ligand binding region | | IPR011500 | GPCR, family 3, nine cysteines domain | | IPR017978 | GPCR family 3, C-terminal | | IPR017979 | GPCR, family 3, conserved site | | IPR028082 | Periplasmic binding protein-like I |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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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:0000545 | Myopia | |
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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:0007642 | Congenital stationary night blindness | |
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| | HP:0007663 | Decreased central vision | |
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| | HP:0007766 | Hypoplastic optic disks | |
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| | HP:0008002 | Macular pigmentary changes | |
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| | HP:0011003 | Severe Myopia | |
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| | HP:0012047 | Hemeralopia | "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
1 s.
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