Gene Gene information from NCBI Gene database.
Entrez ID 112609
Gene name Melanocortin 2 receptor accessory protein 2
Gene symbol MRAP2
Synonyms (NCBI Gene)
C6orf117bA51G5.2
Chromosome 6
Chromosome location 6q14.2
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777046 G>A,T Risk-factor 5 prime UTR variant, missense variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
104
miRTarBase ID miRNA Experiments Reference
MIRT030877 hsa-miR-21-5p Microarray 18591254
MIRT1157505 hsa-miR-1302 CLIP-seq
MIRT1157506 hsa-miR-1343 CLIP-seq
MIRT1157507 hsa-miR-181a CLIP-seq
MIRT1157508 hsa-miR-181b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19329486, 20371771, 28298427, 32296183, 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.
MIM HGNC e!Ensembl
615410 21232 ENSG00000135324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96G30
Protein name Melanocortin-2 receptor accessory protein 2 (MC2R accessory protein 2)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15183 MRAP 13 99 Melanocortin-2 receptor accessory protein family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the adrenal gland and brain. Not expressed in other tissues. {ECO:0000269|PubMed:19329486}.
Sequence
MSAQRLISNRTSQQSASNSDYTWEYEYYEIGPVSFEGLKAHKYSIVIGFWVGLAVFVIFM
FFVLTLLTKTGAPHQDNAESSEKRFRMNSFVSDFGRPLE
PDKVFSRQGNEESRSLFHCYI
NEVERLDRAKACHQTTALDSDVQLQEAIRSSGQPEEELNRLMKFDIPNFVNTDQNYFGED
DLLISEPPIVLETKPLSQTSHKDLD
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Growth hormone synthesis, secretion and action  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
29
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Body mass index quantitative trait locus 18 Likely benign; risk factor rs115655382, rs587777046 RCV002487932
RCV000056272
MRAP2-related disorder Uncertain significance; Benign; Likely benign rs761040997, rs756421129, rs112932891, rs747117191, rs145761372, rs1226440683, rs2099491444, rs148904867, rs774807802, rs1393641741, rs116808318, rs749283207, rs775755022, rs374857377, rs147611875
View all (12 more)
RCV004749825
RCV003402002
RCV003978582
RCV003973489
RCV003928962
RCV003420764
RCV003412109
RCV003391271
RCV003414149
RCV003402949
RCV003981068
RCV004750428
RCV003896858
RCV003896965
RCV003899878
RCV003973976
RCV003977220
RCV003979491
RCV003977261
RCV003909759
RCV003949254
RCV003957102
RCV003934226
RCV003936900
RCV003959869
RCV004750474
RCV003933132
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 28902444
Hyperglycemia Associate 31700171
Hypertension Associate 31700171
Hypomagnesemia primary Associate 31700171
Obesity Associate 31700171, 35026759, 37329217, 37888144