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Aliases for MRAP2 Gene

Aliases for MRAP2 Gene

  • Melanocortin 2 Receptor Accessory Protein 2 2 3 5
  • MC2R Accessory Protein 2 3 4
  • C6orf117 3 4
  • Melanocortin-2 Receptor Accessory Protein 2 3
  • Chromosome 6 Open Reading Frame 117 2
  • BA51G5.2 3

External Ids for MRAP2 Gene

Previous HGNC Symbols for MRAP2 Gene

  • C6orf117

Previous GeneCards Identifiers for MRAP2 Gene

  • GC06P084801
  • GC06P081973
  • GC06P084743

Summaries for MRAP2 Gene

Entrez Gene Summary for MRAP2 Gene

  • 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]

GeneCards Summary for MRAP2 Gene

MRAP2 (Melanocortin 2 Receptor Accessory Protein 2) is a Protein Coding gene. Diseases associated with MRAP2 include Body Mass Index Quantitative Trait Locus 18 and Familial Glucocorticoid Deficiency. Gene Ontology (GO) annotations related to this gene include identical protein binding and type 4 melanocortin receptor binding.

UniProtKB/Swiss-Prot for MRAP2 Gene

  • Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo.

Additional gene information for MRAP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRAP2 Gene

Genomics for MRAP2 Gene

GeneHancer (GH) Regulatory Elements for MRAP2 Gene

Promoters and enhancers for MRAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J084033 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 657 +9.2 9214 1.2 RB1 KLF17 ZBTB40 ZNF2 ZNF335 GLIS2 ATF7 ZNF202 SP3 REST MRAP2 CEP162 PIR38382
GH06J084019 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.4 -5.4 -5395 0.1 ZXDB MRAP2 CEP162 ENSG00000230852 ENSG00000228679
GH06J084051 Enhancer 1.6 VISTA Ensembl ENCODE dbSUPER 23.2 +27.7 27654 2.5 HDAC1 PKNOX1 MZF1 FEZF1 ZNF335 GLIS2 ZNF366 EGR1 SCRT2 EGR2 MRAP2 CEP162 RIPPLY2 PIR38382 GC06P084130
GH06J084060 Enhancer 0.9 dbSUPER 20.4 +37.3 37295 2.4 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 FOS ATF7 NCOA1 MRAP2 PIR38382 GC06P084130
GH06J084059 Enhancer 0.7 dbSUPER 17.6 +35.2 35151 1.8 SMAD1 NFIB TEAD4 TAL1 CC2D1A TCF12 CTBP1 LCORL NCOR1 ZNF350 CEP162 MRAP2 PIR38382 GC06P084130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRAP2 gene promoter:

Genomic Locations for MRAP2 Gene

Genomic Locations for MRAP2 Gene
chr6:84,024,786-84,146,282
(GRCh38/hg38)
Size:
121,497 bases
Orientation:
Plus strand
chr6:84,743,420-84,800,606
(GRCh37/hg19)

Genomic View for MRAP2 Gene

Genes around MRAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRAP2 Gene

Proteins for MRAP2 Gene

  • Protein details for MRAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G30-MRAP2_HUMAN
    Recommended name:
    Melanocortin-2 receptor accessory protein 2
    Protein Accession:
    Q96G30
    Secondary Accessions:
    • A8K9M1
    • Q8IXM9
    • Q8N2D1

    Protein attributes for MRAP2 Gene

    Size:
    205 amino acids
    Molecular mass:
    23548 Da
    Quaternary structure:
    • Homodimer and heterodimer. Forms antiparallel homodimers and heterodimers with MRAP. Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.

neXtProt entry for MRAP2 Gene

Post-translational modifications for MRAP2 Gene

  • Glycosylation at Asn9
  • Modification sites at PhosphoSitePlus

Other Protein References for MRAP2 Gene

No data available for DME Specific Peptides for MRAP2 Gene

Domains & Families for MRAP2 Gene

Gene Families for MRAP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for MRAP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96G30

UniProtKB/Swiss-Prot:

MRAP2_HUMAN :
  • Belongs to the MRAP family.
Family:
  • Belongs to the MRAP family.
genes like me logo Genes that share domains with MRAP2: view

Function for MRAP2 Gene

Molecular function for MRAP2 Gene

UniProtKB/Swiss-Prot Function:
Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo.

Gene Ontology (GO) - Molecular Function for MRAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19329486
GO:0031780 corticotropin hormone receptor binding IPI 19329486
GO:0031781 type 3 melanocortin receptor binding IPI 19329486
GO:0031782 type 4 melanocortin receptor binding IEA,IPI 19329486
GO:0031783 type 5 melanocortin receptor binding IPI 19329486
genes like me logo Genes that share ontologies with MRAP2: view
genes like me logo Genes that share phenotypes with MRAP2: view

Animal Models for MRAP2 Gene

MGI Knock Outs for MRAP2:
  • Mrap2 Mrap2<tm1.1Maj>
  • Mrap2 Mrap2<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for MRAP2 Gene

miRTarBase miRNAs that target MRAP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRAP2 Gene

Localization for MRAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRAP2 Gene

Cell membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Note=The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context. {ECO:0000269 PubMed:20371771}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRAP2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 19329486
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IDA 19329486
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MRAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRAP2 Gene

Pathways & Interactions for MRAP2 Gene

SuperPathways for MRAP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MRAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process ISS,IEA --
GO:0007631 feeding behavior ISS,IEA --
GO:0030819 obsolete positive regulation of cAMP biosynthetic process IEA --
GO:0072659 protein localization to plasma membrane IDA 19329486
GO:0097009 energy homeostasis ISS,IEA --
genes like me logo Genes that share ontologies with MRAP2: view

No data available for Pathways by source and SIGNOR curated interactions for MRAP2 Gene

Drugs & Compounds for MRAP2 Gene

No Compound Related Data Available

Transcripts for MRAP2 Gene

mRNA/cDNA for MRAP2 Gene

Unigene Clusters for MRAP2 Gene

Melanocortin 2 receptor accessory protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRAP2 Gene

No ASD Table

Relevant External Links for MRAP2 Gene

GeneLoc Exon Structure for
MRAP2
ECgene alternative splicing isoforms for
MRAP2

Expression for MRAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MRAP2 Gene

This gene is overexpressed in Artery - Aorta (x14.1) and Artery - Tibial (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of MRAP2 Gene:

MRAP2

SOURCE GeneReport for Unigene cluster for MRAP2 Gene:

Hs.370055

mRNA Expression by UniProt/SwissProt for MRAP2 Gene:

Q96G30-MRAP2_HUMAN
Tissue specificity: Expressed in the adrenal gland and brain. Not expressed in other tissues.

Evidence on tissue expression from TISSUES for MRAP2 Gene

  • Nervous system(4.5)
  • Intestine(4.1)
  • Kidney(4)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with MRAP2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRAP2 Gene

Orthologs for MRAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MRAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRAP2 34 33
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRAP2 34 33
  • 90.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRAP2 34 33
  • 90.08 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrap2 33
  • 86.83 (n)
mouse
(Mus musculus)
Mammalia Mrap2 16 34 33
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRAP2 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRAP2 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRAP2 34 33
  • 73.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRAP2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrap2 33
  • 69.78 (n)
zebrafish
(Danio rerio)
Actinopterygii mrap2a 34 33
  • 60.07 (n)
OneToOne
Species where no ortholog for MRAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MRAP2 Gene

ENSEMBL:
Gene Tree for MRAP2 (if available)
TreeFam:
Gene Tree for MRAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRAP2: view image

Paralogs for MRAP2 Gene

No data available for Paralogs for MRAP2 Gene

Variants for MRAP2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MRAP2 Gene

MRAP2_HUMAN-Q96G30
Genetic variations in MRAP2 define the body mass index quantitative trait locus 18 (BMIQ18) [MIM:615457]. Variance in body mass index is a susceptibility factor for obesity.

Sequence variations from dbSNP and Humsavar for MRAP2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs587777046 risk-factor, Body mass index quantitative trait locus 18 84,055,388(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1000001373 -- 84,145,626(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000052493 -- 84,070,107(+) T/C intron_variant
rs1000083753 -- 84,140,560(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000139514 -- 84,031,233(+) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MRAP2 Gene

Variant ID Type Subtype PubMed ID
esv2759451 CNV loss 17122850
esv3609788 CNV gain 21293372
nsv1025798 CNV gain 25217958
nsv5378 CNV deletion 18451855
nsv7938 CNV gain 18304495
nsv830719 CNV gain 17160897

Variation tolerance for MRAP2 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRAP2 Gene

Human Gene Mutation Database (HGMD)
MRAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRAP2

SNP Genotyping and Copy Number Assay Products

Disorders for MRAP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 18
  • obesity
familial glucocorticoid deficiency
  • glucocorticoid deficiency 1
- elite association - COSMIC cancer census association via MalaCards
Search MRAP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRAP2_HUMAN
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269 PubMed:23869016}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for MRAP2

genes like me logo Genes that share disorders with MRAP2: view

No data available for Genatlas for MRAP2 Gene

Publications for MRAP2 Gene

  1. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. (PMID: 23869016) Asai M … Majzoub JA (Science (New York, N.Y.) 2013) 3 4 58
  2. Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2. (PMID: 20371771) Sebag JA … Hinkle PM (Science signaling 2010) 3 4 58
  3. MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. (PMID: 19329486) Chan LF … Clark AJ (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MRAP2 Gene

Sources for MRAP2 Gene

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