Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777046	G>A,T	Risk-factor	5 prime UTR variant, missense variant, stop gained, coding sequence variant

104

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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
MIRT1157509	hsa-miR-181c	CLIP-seq
MIRT1157510	hsa-miR-181d	CLIP-seq
MIRT1157511	hsa-miR-1912	CLIP-seq
MIRT1157512	hsa-miR-3064-3p	CLIP-seq
MIRT1157513	hsa-miR-3120-5p	CLIP-seq
MIRT1157514	hsa-miR-3134	CLIP-seq
MIRT1157515	hsa-miR-3183	CLIP-seq
MIRT1157516	hsa-miR-3185	CLIP-seq
MIRT1157517	hsa-miR-320a	CLIP-seq
MIRT1157518	hsa-miR-320b	CLIP-seq
MIRT1157519	hsa-miR-320c	CLIP-seq
MIRT1157520	hsa-miR-320d	CLIP-seq
MIRT1157521	hsa-miR-330-3p	CLIP-seq
MIRT1157522	hsa-miR-3647-3p	CLIP-seq
MIRT1157523	hsa-miR-3675-3p	CLIP-seq
MIRT1157524	hsa-miR-3684	CLIP-seq
MIRT1157525	hsa-miR-3924	CLIP-seq
MIRT1157526	hsa-miR-4257	CLIP-seq
MIRT1157527	hsa-miR-4262	CLIP-seq
MIRT1157528	hsa-miR-4298	CLIP-seq
MIRT1157529	hsa-miR-4305	CLIP-seq
MIRT1157530	hsa-miR-431	CLIP-seq
MIRT1157531	hsa-miR-4422	CLIP-seq
MIRT1157532	hsa-miR-4429	CLIP-seq
MIRT1157533	hsa-miR-4480	CLIP-seq
MIRT1157534	hsa-miR-452	CLIP-seq
MIRT1157535	hsa-miR-4639-3p	CLIP-seq
MIRT1157536	hsa-miR-4640-5p	CLIP-seq
MIRT1157537	hsa-miR-4643	CLIP-seq
MIRT1157538	hsa-miR-4654	CLIP-seq
MIRT1157539	hsa-miR-4659a-5p	CLIP-seq
MIRT1157540	hsa-miR-4659b-5p	CLIP-seq
MIRT1157541	hsa-miR-466	CLIP-seq
MIRT1157542	hsa-miR-4676-3p	CLIP-seq
MIRT1157543	hsa-miR-4690-3p	CLIP-seq
MIRT1157544	hsa-miR-4715-3p	CLIP-seq
MIRT1157545	hsa-miR-4719	CLIP-seq
MIRT1157546	hsa-miR-4723-3p	CLIP-seq
MIRT1157547	hsa-miR-4726-5p	CLIP-seq
MIRT1157548	hsa-miR-4727-5p	CLIP-seq
MIRT1157549	hsa-miR-4769-3p	CLIP-seq
MIRT1157550	hsa-miR-4769-5p	CLIP-seq
MIRT1157551	hsa-miR-4776-3p	CLIP-seq
MIRT1157552	hsa-miR-4789-3p	CLIP-seq
MIRT1157553	hsa-miR-486-3p	CLIP-seq
MIRT1157554	hsa-miR-511	CLIP-seq
MIRT1157555	hsa-miR-513b	CLIP-seq
MIRT1157556	hsa-miR-548ag	CLIP-seq
MIRT1157557	hsa-miR-548ai	CLIP-seq
MIRT1157558	hsa-miR-593	CLIP-seq
MIRT1157559	hsa-miR-635	CLIP-seq
MIRT1157560	hsa-miR-654-3p	CLIP-seq
MIRT1157561	hsa-miR-7	CLIP-seq
MIRT2045083	hsa-miR-105	CLIP-seq
MIRT1157506	hsa-miR-1343	CLIP-seq
MIRT1157517	hsa-miR-320a	CLIP-seq
MIRT1157518	hsa-miR-320b	CLIP-seq
MIRT1157519	hsa-miR-320c	CLIP-seq
MIRT1157520	hsa-miR-320d	CLIP-seq
MIRT1157521	hsa-miR-330-3p	CLIP-seq
MIRT2045084	hsa-miR-3944-5p	CLIP-seq
MIRT1157532	hsa-miR-4429	CLIP-seq
MIRT1157536	hsa-miR-4640-5p	CLIP-seq
MIRT1157547	hsa-miR-4726-5p	CLIP-seq
MIRT2045085	hsa-miR-586	CLIP-seq
MIRT1157558	hsa-miR-593	CLIP-seq
MIRT1157505	hsa-miR-1302	CLIP-seq
MIRT2274281	hsa-miR-1305	CLIP-seq
MIRT1157506	hsa-miR-1343	CLIP-seq
MIRT1157507	hsa-miR-181a	CLIP-seq
MIRT1157508	hsa-miR-181b	CLIP-seq
MIRT1157509	hsa-miR-181c	CLIP-seq
MIRT1157510	hsa-miR-181d	CLIP-seq
MIRT2274282	hsa-miR-3187-3p	CLIP-seq
MIRT1157517	hsa-miR-320a	CLIP-seq
MIRT1157518	hsa-miR-320b	CLIP-seq
MIRT1157519	hsa-miR-320c	CLIP-seq
MIRT1157520	hsa-miR-320d	CLIP-seq
MIRT1157521	hsa-miR-330-3p	CLIP-seq
MIRT2274283	hsa-miR-3926	CLIP-seq
MIRT2274284	hsa-miR-421	CLIP-seq
MIRT1157527	hsa-miR-4262	CLIP-seq
MIRT1157528	hsa-miR-4298	CLIP-seq
MIRT1157532	hsa-miR-4429	CLIP-seq
MIRT2274285	hsa-miR-4435	CLIP-seq
MIRT1157533	hsa-miR-4480	CLIP-seq
MIRT2274286	hsa-miR-4493	CLIP-seq
MIRT1157537	hsa-miR-4643	CLIP-seq
MIRT1157541	hsa-miR-466	CLIP-seq
MIRT2274287	hsa-miR-4701-5p	CLIP-seq
MIRT1157548	hsa-miR-4727-5p	CLIP-seq
MIRT1157549	hsa-miR-4769-3p	CLIP-seq
MIRT1157552	hsa-miR-4789-3p	CLIP-seq
MIRT1157556	hsa-miR-548ag	CLIP-seq
MIRT1157557	hsa-miR-548ai	CLIP-seq
MIRT2274288	hsa-miR-548s	CLIP-seq
MIRT2274289	hsa-miR-588	CLIP-seq
MIRT2685283	hsa-miR-141	CLIP-seq
MIRT2685284	hsa-miR-200a	CLIP-seq

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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
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19329486
GO:0005886	Component	Plasma membrane	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006112	Process	Energy reserve metabolic process	ISS
GO:0007631	Process	Feeding behavior	IEA
GO:0007631	Process	Feeding behavior	ISS
GO:0016020	Component	Membrane	IEA
GO:0030545	Function	Signaling receptor regulator activity	IBA
GO:0030545	Function	Signaling receptor regulator activity	IEA
GO:0031780	Function	Corticotropin hormone receptor binding	IBA
GO:0031780	Function	Corticotropin hormone receptor binding	IPI	19329486
GO:0031781	Function	Type 3 melanocortin receptor binding	IBA
GO:0031781	Function	Type 3 melanocortin receptor binding	IPI	19329486
GO:0031782	Function	Type 4 melanocortin receptor binding	IBA
GO:0031782	Function	Type 4 melanocortin receptor binding	IEA
GO:0031782	Function	Type 4 melanocortin receptor binding	IPI	19329486
GO:0031783	Function	Type 5 melanocortin receptor binding	IBA
GO:0031783	Function	Type 5 melanocortin receptor binding	IPI	19329486
GO:0042802	Function	Identical protein binding	IPI	19329486, 20371771
GO:0070996	Function	Type 1 melanocortin receptor binding	IBA
GO:0070996	Function	Type 1 melanocortin receptor binding	IPI	19329486
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IDA	19329486
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0106070	Process	Regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0106071	Process	Positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486
GO:0106072	Process	Negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IDA	19329486

MIM	HGNC	e!Ensembl
615410	21232	ENSG00000135324

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
FFVLTLLTKTGAPHQDNAESSEKRFRMNSFVSDFGRPLEPDKVFSRQGNEESRSLFHCYI
NEVERLDRAKACHQTTALDSDVQLQEAIRSSGQPEEELNRLMKFDIPNFVNTDQNYFGED
DLLISEPPIVLETKPLSQTSHKDLD

Sequence length

205

Interactions

View interactions

	KEGG
	Growth hormone synthesis, secretion and action

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Body mass index quantitative trait locus 18	Likely benign; risk factor	ClinVar CTD, ClinVar	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MRAP2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22419722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22419722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22419722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28902444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31700171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31700171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31700171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31700171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23869016, 31700171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG	26795956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31700171, 35026759, 37329217, 37888144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	23869016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	GENOMICS_ENGLAND_DG	26795956		★★★★★ ★☆☆☆☆ Found in Text Mining only

MRAP2 (melanocortin 2 receptor accessory protein 2)