ENSG00000185231
Homo sapiens | |
Features
| Gene ID: | ENSG00000185231 | | | | | Biological name : | MC2R | | | | | Synonyms : | MC2R / melanocortin 2 receptor / Q01718 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 18 | | Strand: | -1 | | Band: | p11.21 | | Gene start: | 13882044 | | Gene end: | 13915707 | | | | | Corresponding Affymetrix probe sets: | 208568_at (Human Genome U133 Plus 2.0 Array) 217434_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000333821
Ensembl peptide - ENSP00000382718
NCBI entrez gene - 4158
See in Manteia.
OMIM - 607397
RefSeq - XM_017025781
RefSeq - NM_000529
RefSeq - NM_001291911
RefSeq Peptide - NP_001278840
RefSeq Peptide - NP_000520
swissprot - Q01718
swissprot - R4GMM0
Ensembl - ENSG00000185231
| | | | | Related genetic diseases (OMIM): | 202200 - Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 |
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: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:0000098 | Increased body height | |
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| | HP:0000953 | Hyperpigmentation | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001259 | Coma | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001988 | Recurrent hypoglycemic episodes | |
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| | HP:0002719 | Recurrent infections | |
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| | HP:0003154 | Elevated plasma ACTH | |
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| | HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| | HP:0008163 | Plasma cortisol low | |
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Interacting proteins (from Reactome)
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