Human Gene MRAP (ENST00000303645.10_5) from GENCODE V47lift37
  Description: melanocortin 2 receptor accessory protein, transcript variant 4 (from RefSeq NM_001379228.1)
Gencode Transcript: ENST00000303645.10_5
Gencode Gene: ENSG00000170262.13_6
Transcript (Including UTRs)
   Position: hg19 chr21:33,671,166-33,684,601 Size: 13,436 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr21:33,671,283-33,684,307 Size: 13,025 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:33,671,166-33,684,601)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MRAP_HUMAN
DESCRIPTION: RecName: Full=Melanocortin-2 receptor accessory protein; AltName: Full=B27; AltName: Full=Fat cell-specific low molecular weight protein; AltName: Full=Fat tissue-specific low MW protein;
FUNCTION: Required for MC2R expression in certain cell types, suggesting that it is involved in the processing, trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells.
SUBUNIT: Interacts with MC2R.
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm (By similarity). Cell membrane. Endoplasmic reticulum. Note=Concentrated at the perinuclear membrane region. Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm (By similarity). Localizes both to plasma membrane and endoplasmic reticulum.
TISSUE SPECIFICITY: Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.
DISEASE: Defects in MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2) [MIM:607398]; also known as familial glucocorticoid deficiency type 2 (FGD2). GCCD2 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRAP";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MRAP
Diseases sorted by gene-association score: glucocorticoid deficiency 2* (1019), familial glucocorticoid deficiency* (268), urethral syndrome (21), hypopyon (16), scleral disease (16), plantar fasciitis (16), optic papillitis (16), transient arthritis (16), axial osteomalacia (15), fuchs' heterochromic uveitis (12), pustulosis of palm and sole (12), acute retinal necrosis syndrome (11), glaucomatocyclitic crisis (11), posterior scleritis (11), chronic endophthalmitis (10), urethritis (10), iritis (10), iridocyclitis (10), bone inflammation disease (10), fox-fordyce disease (10), aortitis (9), enthesopathy (9), balanitis (8), chorioretinitis (8), aortic valve insufficiency (8), penile disease (8), tenosynovitis (8), ochronosis (8), band keratopathy (8), conjunctival disease (8), tendinitis (7), panuveitis (7), infectious anterior uveitis (7), macular dystrophy, dominant cystoid (7), mesenteric lymphadenitis (7), toxic optic neuropathy (7), diffuse idiopathic skeletal hyperostosis (7), whipple disease (7), vulvitis (7), vulvar disease (6), bursitis (6), marcus gunn phenomenon (6), spondyloarthropathy 1 (6), diarrhea 1, secretory chloride, congenital (6), orbital plasma cell granuloma (6), hemoglobin c disease (6), specific bursitis often of occupational origin (6), chronic orbital inflammation (6), pyuria (6), macular retinal edema (6), de quervain disease (6), globe disease (6), cervix disease (6), granuloma inguinale (6), olecranon bursitis (6), coccidiosis (6), punctate palmoplantar keratoderma (6), iris disease (5), anterior scleritis (5), acute salpingitis (5), osgood-schlatter's disease (5), cervicitis (5), endophthalmitis (5), rheumatoid arthritis, systemic juvenile (4), diffuse pulmonary fibrosis (4), renal tuberculosis (4), hypersensitivity reaction type iv disease (4), skeletal tuberculosis (4), palindromic rheumatism (4), diffuse infiltrative lymphocytosis syndrome (4), purulent endophthalmitis (4), byssinosis (4), intestinal disease (1), aortic valve disease 1 (1), behcet syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.49 RPKM in Adrenal Gland
Total median expression: 73.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.20117-0.403 Picture PostScript Text
3' UTR -79.70294-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15183 - Melanocortin-2 receptor accessory protein family

SCOP Domains:
48695 - Multiheme cytochromes

ModBase Predicted Comparative 3D Structure on Q8TCY5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031780 corticotropin hormone receptor binding
GO:0031781 type 3 melanocortin receptor binding
GO:0031782 type 4 melanocortin receptor binding
GO:0031783 type 5 melanocortin receptor binding
GO:0042802 identical protein binding
GO:0070996 type 1 melanocortin receptor binding

Biological Process:
GO:0072659 protein localization to plasma membrane
GO:1903077 negative regulation of protein localization to plasma membrane

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF483549 - Homo sapiens fat cell-specific low molecular weight protein beta (FALP) mRNA, complete cds.
AF454915 - Homo sapiens C21orf61 long form mRNA, complete cds; alternatively spliced.
AF454916 - Homo sapiens C21orf61 short form mRNA, complete cds; alternatively spliced.
BC062721 - Homo sapiens melanocortin 2 receptor accessory protein, mRNA (cDNA clone MGC:72030 IMAGE:30327887), complete cds.
KJ899242 - Synthetic construct Homo sapiens clone ccsbBroadEn_08636 MRAP gene, encodes complete protein.
HQ257956 - Synthetic construct Homo sapiens clone IMAGE:100072265 melanocortin 2 receptor accessory protein (MRAP), transcript variant 1 (MRAP) gene, encodes complete protein.
AY079152 - Homo sapiens fat cell-specific low molecular weight protein alpha (FALPALPHA) mRNA, complete cds.
JD176722 - Sequence 157746 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf61, ENST00000303645.1, ENST00000303645.2, ENST00000303645.3, ENST00000303645.4, ENST00000303645.5, ENST00000303645.6, ENST00000303645.7, ENST00000303645.8, ENST00000303645.9, FALP, MRAP_HUMAN, NM_001379228, Q5EBR3, Q8TCY5, Q8TDB7, Q8WXC1, Q8WXC2, uc317ngs.1, uc317ngs.2
UCSC ID: ENST00000303645.10_5
RefSeq Accession: NM_001379228.1
Protein: Q8TCY5 (aka MRAP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.