ENSG00000170262


Homo sapiens

Features
Gene ID: ENSG00000170262
  
Biological name :MRAP
  
Synonyms : melanocortin 2 receptor accessory protein / MRAP / Q8TCY5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: 1
Band: q22.11
Gene start: 32291813
Gene end: 32314784
  
Corresponding Affymetrix probe sets: 1554044_a_at (Human Genome U133 Plus 2.0 Array)   1555740_a_at (Human Genome U133 Plus 2.0 Array)   1555741_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306697
Ensembl peptide - ENSP00000343661
Ensembl peptide - ENSP00000382684
NCBI entrez gene - 56246     See in Manteia.
OMIM - 609196
RefSeq - XM_017028407
RefSeq - NM_001285394
RefSeq - NM_178817
RefSeq - NM_206898
RefSeq - XM_006724028
RefSeq Peptide - NP_996781
RefSeq Peptide - NP_001272323
RefSeq Peptide - NP_848932
swissprot - Q8TCY5
Ensembl - ENSG00000170262
  
Related genetic diseases (OMIM): 607398 - Glucocorticoid deficiency 2, 607398
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)
Ortholog nameID Species
 mrapENSDARG00000091992Danio rerio
 MrapENSMUSG00000039956Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR028111  Melanocortin-2 receptor accessory protein family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0072659 protein localization to plasma membrane IDA
 biological_processGO:0106071 positive regulation of adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:0106072 negative regulation of adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031780 corticotropin hormone receptor binding IPI
 molecular_functionGO:0031781 type 3 melanocortin receptor binding IPI
 molecular_functionGO:0031782 type 4 melanocortin receptor binding IPI
 molecular_functionGO:0031783 type 5 melanocortin receptor binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0070996 type 1 melanocortin receptor binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000953 Hyperpigmentation 
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 HP:0001988 Recurrent hypoglycemic episodes 
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 HP:0003154 Elevated plasma ACTH 
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 HP:0008163 Plasma cortisol low 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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