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MRAP2 melanocortin 2 receptor accessory protein 2 [ Homo sapiens (human) ]

Gene ID: 112609, updated on 1-Jun-2020

Summary

Official Symbol
MRAP2provided by HGNC
Official Full Name
melanocortin 2 receptor accessory protein 2provided by HGNC
Primary source
HGNC:HGNC:21232
See related
Ensembl:ENSG00000135324 MIM:615410
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C6orf117; bA51G5.2
Summary
This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]
Expression
Broad expression in brain (RPKM 4.0), adrenal (RPKM 2.1) and 20 other tissues See more
Orthologs

Genomic context

See MRAP2 in Genome Data Viewer
Location:
6q14.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (84032621..84146278)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84732746..84800606)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12168 Neighboring gene long intergenic non-protein coding RNA 2857 Neighboring gene VISTA enhancer hs2063 Neighboring gene centrosomal protein 162 Neighboring gene uncharacterized LOC107986621 Neighboring gene uncharacterized LOC107986620 Neighboring gene uncharacterized LOC107986619

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
corticotropin hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
corticotropin hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type 1 melanocortin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type 1 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 3 melanocortin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type 3 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 4 melanocortin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type 4 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 5 melanocortin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type 5 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
melanocortin-2 receptor accessory protein 2
Names
MC2R accessory protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051944.1 RefSeqGene

    Range
    5114..62223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346541.2NP_001333470.1  melanocortin-2 receptor accessory protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK307078, BC010003, BU629097
    UniProtKB/Swiss-Prot
    Q96G30
  2. NM_001346542.2NP_001333471.1  melanocortin-2 receptor accessory protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    AL161621, BU629097
    Consensus CDS
    CCDS5001.1
    UniProtKB/Swiss-Prot
    Q96G30
    Conserved Domains (1) summary
    pfam15183
    Location:1399
    MRAP; Melanocortin-2 receptor accessory protein family
  3. NM_001346543.2NP_001333472.1  melanocortin-2 receptor accessory protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains a novel 5' coding region compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL161621, BU629097
  4. NM_001346544.1NP_001333473.1  melanocortin-2 receptor accessory protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    AL161621, BU629097
    Consensus CDS
    CCDS5001.1
    UniProtKB/Swiss-Prot
    Q96G30
    Conserved Domains (1) summary
    pfam15183
    Location:1399
    MRAP; Melanocortin-2 receptor accessory protein family
  5. NM_138409.4NP_612418.2  melanocortin-2 receptor accessory protein 2 isoform 1

    See identical proteins and their annotated locations for NP_612418.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    BC010003
    Consensus CDS
    CCDS5001.1
    UniProtKB/Swiss-Prot
    Q96G30
    Related
    ENSP00000257776.4, ENST00000257776.5
    Conserved Domains (1) summary
    pfam15183
    Location:1399
    MRAP; Melanocortin-2 receptor accessory protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    84032621..84146278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010220.1XP_016865709.1  melanocortin-2 receptor accessory protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96G30
    Conserved Domains (1) summary
    pfam15183
    Location:1399
    MRAP; Melanocortin-2 receptor accessory protein family
  2. XM_017010221.2XP_016865710.1  melanocortin-2 receptor accessory protein 2 isoform X2

    Conserved Domains (1) summary
    pfam15183
    Location:1380
    MRAP; Melanocortin-2 receptor accessory protein family
  3. XM_024446318.1XP_024302086.1  melanocortin-2 receptor accessory protein 2 isoform X3

    Conserved Domains (1) summary
    pfam15183
    Location:1381
    MRAP; Melanocortin-2 receptor accessory protein family
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