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Aliases for MRAP Gene

Aliases for MRAP Gene

  • Melanocortin 2 Receptor Accessory Protein 2 3 5
  • Fat Cell-Specific Low Molecular Weight Protein 3 4
  • Fat Tissue-Specific Low MW Protein 3 4
  • C21orf61 3 4
  • FALP 3 4
  • B27 3 4
  • Melanocortin-2 Receptor Accessory Protein 3
  • Chromosome 21 Open Reading Frame 61 2
  • GCCD2 3
  • FGD2 3

External Ids for MRAP Gene

Previous HGNC Symbols for MRAP Gene

  • C21orf61

Previous GeneCards Identifiers for MRAP Gene

  • GC21P032586
  • GC21P033664
  • GC21P019073

Summaries for MRAP Gene

Entrez Gene Summary for MRAP Gene

  • This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

GeneCards Summary for MRAP Gene

MRAP (Melanocortin 2 Receptor Accessory Protein) is a Protein Coding gene. Diseases associated with MRAP include Glucocorticoid Deficiency 2 and Familial Glucocorticoid Deficiency. GO annotations related to this gene include type 3 melanocortin receptor binding and type 1 melanocortin receptor binding.

UniProtKB/Swiss-Prot for MRAP Gene

  • Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.

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

Genomics for MRAP Gene

Regulatory Elements for MRAP Gene

Enhancers for MRAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F032297 0.8 FANTOM5 ENCODE 0.4 +6.5 6511 1.0 NFIA TAL1 CEBPB CEBPG GLIS1 CEBPA ID3 BCL6 ZSCAN29 SMAD4 URB1-AS1 URB1 MRAP LOC105372779
GH21F032305 0.2 ENCODE 0.4 +14.5 14523 1.0 HDAC1 CTCF KLF1 CEBPG ZIC2 PATZ1 ZNF600 PRDM10 KLF8 ZNF639 URB1 LOC105372779 MRAP
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MRAP on UCSC Golden Path with GeneCards custom track

Genomic Location for MRAP Gene

Chromosome:
21
Start:
32,291,813 bp from pter
End:
32,314,784 bp from pter
Size:
22,972 bases
Orientation:
Plus strand

Genomic View for MRAP Gene

Genes around MRAP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MRAP Gene

Proteins for MRAP Gene

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

    Protein Symbol:
    Q8TCY5-MRAP_HUMAN
    Recommended name:
    Melanocortin-2 receptor accessory protein
    Protein Accession:
    Q8TCY5
    Secondary Accessions:
    • Q5EBR3
    • Q8TDB7
    • Q8WXC1
    • Q8WXC2

    Protein attributes for MRAP Gene

    Size:
    172 amino acids
    Molecular mass:
    19136 Da
    Quaternary structure:
    • Homodimer and heterodimer. Forms antiparallel homodimers and heterodimers with MRAP2. Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.

    Alternative splice isoforms for MRAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRAP Gene

Post-translational modifications for MRAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRAP Gene

No data available for DME Specific Peptides for MRAP Gene

Domains & Families for MRAP Gene

Protein Domains for MRAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TCY5

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for MRAP Gene

Function for MRAP Gene

Molecular function for MRAP Gene

UniProtKB/Swiss-Prot Function:
Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.

Gene Ontology (GO) - Molecular Function for MRAP 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 IPI 19329486
GO:0031783 type 5 melanocortin receptor binding IPI 19329486
genes like me logo Genes that share ontologies with MRAP: view

Phenotypes for MRAP Gene

GenomeRNAi human phenotypes for MRAP:
genes like me logo Genes that share phenotypes with MRAP: view

Human Phenotype Ontology for MRAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MRAP Gene

miRTarBase miRNAs that target MRAP

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MRAP Gene

Localization for MRAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRAP 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 (PubMed:20371771). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm. {ECO:0000269 PubMed:20371771}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRAP Gene COMPARTMENTS Subcellular localization image for MRAP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytoskeleton 2
extracellular 2
nucleus 2
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MRAP 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 MRAP: view

Pathways & Interactions for MRAP Gene

SuperPathways for MRAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MRAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030819 positive regulation of cAMP biosynthetic process IDA 19329486
GO:0034394 protein localization to cell surface IDA 19329486
GO:0050873 brown fat cell differentiation IEA --
genes like me logo Genes that share ontologies with MRAP: view

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

Drugs & Compounds for MRAP Gene

(1) Drugs for MRAP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MRAP: view

Transcripts for MRAP Gene

mRNA/cDNA for MRAP Gene

Unigene Clusters for MRAP Gene

Melanocortin 2 receptor accessory protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MRAP Gene

GeneLoc Exon Structure for
MRAP
ECgene alternative splicing isoforms for
MRAP

Expression for MRAP Gene

mRNA expression in normal human tissues for MRAP Gene

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

This gene is overexpressed in Adrenal Gland (x27.1), Adipose - Visceral (Omentum) (x9.5), Adipose - Subcutaneous (x5.6), and Breast - Mammary Tissue (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of MRAP Gene:

MRAP

SOURCE GeneReport for Unigene cluster for MRAP Gene:

Hs.584940

mRNA Expression by UniProt/SwissProt for MRAP Gene:

Q8TCY5-MRAP_HUMAN
Tissue specificity: Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.
genes like me logo Genes that share expression patterns with MRAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MRAP Gene

Orthologs for MRAP Gene

This gene was present in the common ancestor of mammals.

Orthologs for MRAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRAP 34 35
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia MRAP 34 35
  • 83.33 (n)
cow
(Bos Taurus)
Mammalia MRAP 34 35
  • 82.97 (n)
mouse
(Mus musculus)
Mammalia Mrap 34 16 35
  • 79.77 (n)
rat
(Rattus norvegicus)
Mammalia Mrap 34
  • 76.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRAP 35
  • 43 (a)
OneToOne
Species where no ortholog for MRAP 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MRAP Gene

ENSEMBL:
Gene Tree for MRAP (if available)
TreeFam:
Gene Tree for MRAP (if available)

Paralogs for MRAP Gene

No data available for Paralogs for MRAP Gene

Variants for MRAP Gene

Sequence variations from dbSNP and Humsavar for MRAP Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs80358231 Pathogenic 32,298,974(+) GACAT(A/G)GCCAA intron-variant, reference, missense
rs10154091 -- 32,307,243(+) gggga(A/G)tgact intron-variant
rs10427546 -- 32,297,231(+) gggct(A/G)gttgt intron-variant, upstream-variant-2KB
rs10854356 -- 32,295,255(+) AGGGG(A/G)CCAAG intron-variant
rs111249870 -- 32,306,208(+) TGTTC(C/T)ACCAA intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv1007564 CNV insertion 20482838
esv1730259 CNV insertion 17803354
esv23692 CNV loss 19812545
nsv1132906 CNV insertion 24896259
nsv1148790 CNV insertion 26484159
nsv187437 CNV insertion 16902084
nsv473420 CNV novel sequence insertion 20440878
nsv510795 CNV deletion 20534489
nsv834084 CNV gain 17160897

Variation tolerance for MRAP Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRAP Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRAP Gene

Disorders for MRAP Gene

MalaCards: The human disease database

(73) MalaCards diseases for MRAP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glucocorticoid deficiency 2
  • familial glucocorticoid deficiency 2
familial glucocorticoid deficiency
  • acth resistance
urethral syndrome
  • urethral disease
balanitis
hypopyon
- elite association - COSMIC cancer census association via MalaCards
Search MRAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRAP_HUMAN
  • Glucocorticoid deficiency 2 (GCCD2) [MIM:607398]: A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269 PubMed:15654338}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MRAP

Genetic Association Database (GAD)
MRAP
Human Genome Epidemiology (HuGE) Navigator
MRAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRAP
genes like me logo Genes that share disorders with MRAP: view

No data available for Genatlas for MRAP Gene

Publications for MRAP Gene

  1. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (PMID: 15654338) Metherell L.A. … Clark A.J.L. (Nat. Genet. 2005) 2 3 4 22 64
  2. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (PMID: 19558534) Chung T.T. … Clark A.J. (Clin. Endocrinol. (Oxf) 2010) 3 22 46 64
  3. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. (PMID: 19903795) Dias R.P. … Clark A.J. (Eur. J. Endocrinol. 2010) 3 22 46 64
  4. Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2. (PMID: 20371771) Sebag J.A. … Hinkle P.M. (Sci Signal 2010) 3 4 22 64
  5. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PMID: 12036298) Gardiner K. … Davisson M. (Genomics 2002) 2 3 4 64

Products for MRAP Gene

Sources for MRAP Gene

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