MRAP (melanocortin 2 receptor accessory protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56246
Gene name Melanocortin 2 receptor accessory protein
Gene symbol MRAP
Synonyms (NCBI Gene)
B27C21orf61FALPFGD2GCCD2MRAP1
Chromosome 21
Chromosome location 21q22.11
Summary 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. Mut
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs80358231 G>A Pathogenic Missense variant, initiator codon variant, intron variant
rs566223651 G>A,C,T Pathogenic Splice donor variant, intron variant
rs1476574441 G>- Pathogenic Intron variant, splice donor variant
rs1555897462 A>G Pathogenic Intron variant, initiator codon variant, missense variant
rs1569025178 ACGCCTC>- Pathogenic Intron variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT1157562 hsa-miR-299-3p CLIP-seq
MIRT1157563 hsa-miR-3144-5p CLIP-seq
MIRT1157564 hsa-miR-3151 CLIP-seq
MIRT1157565 hsa-miR-3191 CLIP-seq
MIRT1157566 hsa-miR-4447 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18077336, 18840636, 19151134, 19329486, 20371771, 28298427, 32814053
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 19329486
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609196 1304 ENSG00000170262
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCY5
Protein name Melanocortin-2 receptor accessory protein (B27) (Fat cell-specific low molecular weight protein) (Fat tissue-specific low MW protein)
Protein 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 a
PDB 8GY7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15183 MRAP 1 → 89 Melanocortin-2 receptor accessory protein family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues. {ECO:0000269|PubMed:15654338}.
Sequence 
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYM
SWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPD
QPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS
Sequence length 172
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cortisol synthesis and secretion
Cushing syndrome 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glucocorticoid deficiency 1 Pathogenic rs80358231, rs1555897462, rs1476574441 RCV000513053
RCV000512739
RCV000513343
Glucocorticoid deficiency 2 Pathogenic rs566223651, rs2516869613, rs80358231, rs1569025178, rs1476574441 RCV000001910
RCV000001911
RCV000001912
RCV000001914
RCV000001915
RCV000001917
RCV002250648
MRAP-related disorder Likely pathogenic rs1064796398 RCV003409666
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glucocorticoid Deficiency Uncertain significance rs749127883 RCV000302496
Show/Hide Text Mining Associations (34)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Addison Disease Associate 26523528
Anemia Hemolytic Associate 15282673
Arthritis Associate 11352256, 23804219, 7763114
Arthritis Stimulate 2111123, 3878147
Arthritis Juvenile Associate 10446870, 10513798, 36574181
Arthritis Psoriatic Stimulate 22006066
Arthritis Reactive Associate 15248225, 16107515, 2879815, 702543
Arthritis Reactive Inhibit 3878147
Arthritis Rheumatoid Associate 10446870
Axial osteomalacia Associate 7763114