MRAP (melanocortin 2 receptor accessory protein)

2016-10-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
B27,C21orf61,FALP,FGD2,GCCD2
FUSION GENES

Other Information

Locus ID:

NCBI: 56246
MIM: 609196
HGNC: 1304
Ensembl: ENSG00000170262

Variants:

dbSNP: 56246
ClinVar: 56246
TCGA: ENSG00000170262
COSMIC: MRAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170262ENST00000303645Q8TCY5
ENSG00000170262ENST00000339944Q8TCY5
ENSG00000170262ENST00000399784Q8TCY5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
156543382005Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.94
193294862009MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.53
180773362007Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers.49
189811832009Regions of melanocortin 2 (MC2) receptor accessory protein necessary for dual topology and MC2 receptor trafficking and signaling.34
174567952007Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells.33
188182852009Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.23
195585342010Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.19
195585342010Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.19
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.10
234183612013Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.10

Citation

Dessen P

MRAP (melanocortin 2 receptor accessory protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56104/mrap