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Protein

Melanocortin-2 receptor accessory protein 2

Gene

MRAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo.By similarity2 Publications

GO - Molecular functioni

  • corticotropin hormone receptor binding Source: BHF-UCL
  • type 1 melanocortin receptor binding Source: BHF-UCL
  • type 3 melanocortin receptor binding Source: BHF-UCL
  • type 4 melanocortin receptor binding Source: BHF-UCL
  • type 5 melanocortin receptor binding Source: BHF-UCL

GO - Biological processi

  • energy homeostasis Source: UniProtKB
  • energy reserve metabolic process Source: UniProtKB
  • feeding behavior Source: UniProtKB
  • positive regulation of cAMP biosynthetic process Source: BHF-UCL
  • protein localization to cell surface Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Melanocortin-2 receptor accessory protein 2
Short name:
MC2R accessory protein 2
Gene namesi
Name:MRAP2
Synonyms:C6orf117
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21232. MRAP2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei45 – 65HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum Source: BHF-UCL
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Obesity (OBESITY)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
See also OMIM:601665

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi9N → Q: Abolishes N-glycosylation. 1 Publication1

Keywords - Diseasei

Obesity

Organism-specific databases

DisGeNETi112609.
MalaCardsiMRAP2.
MIMi601665. phenotype.
615457. phenotype.
OpenTargetsiENSG00000135324.
PharmGKBiPA162396161.

Polymorphism and mutation databases

BioMutaiMRAP2.
DMDMi68565259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895221 – 205Melanocortin-2 receptor accessory protein 2Add BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi9N-linked (GlcNAc...)1 Publication1
Modified residuei89PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ96G30.
PRIDEiQ96G30.

PTM databases

iPTMnetiQ96G30.
PhosphoSitePlusiQ96G30.

Expressioni

Tissue specificityi

Expressed in the adrenal gland and brain. Not expressed in other tissues.1 Publication

Gene expression databases

BgeeiENSG00000135324.
CleanExiHS_MRAP2.
GenevisibleiQ96G30. HS.

Organism-specific databases

HPAiHPA008966.

Interactioni

Subunit structurei

Homodimer and heterodimer. Forms antiparallel homodimers and heterodimers with MRAP. Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-9537218,EBI-9537218
MRAPQ8TCY53EBI-9537218,EBI-9538727

GO - Molecular functioni

  • corticotropin hormone receptor binding Source: BHF-UCL
  • type 1 melanocortin receptor binding Source: BHF-UCL
  • type 3 melanocortin receptor binding Source: BHF-UCL
  • type 4 melanocortin receptor binding Source: BHF-UCL
  • type 5 melanocortin receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi125195. 55 interactors.
DIPiDIP-48793N.
IntActiQ96G30. 8 interactors.
STRINGi9606.ENSP00000257776.

Structurei

3D structure databases

ProteinModelPortaliQ96G30.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MRAP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHNK. Eukaryota.
ENOG4111S4H. LUCA.
GeneTreeiENSGT00650000093438.
HOGENOMiHOG000290703.
HOVERGENiHBG095178.
InParanoidiQ96G30.
OMAiFVNTEQN.
OrthoDBiEOG091G0J7D.
PhylomeDBiQ96G30.
TreeFamiTF338691.

Family and domain databases

InterProiIPR028111. MRAP.
[Graphical view]
PfamiPF15183. MRAP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96G30-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAQRLISNR TSQQSASNSD YTWEYEYYEI GPVSFEGLKA HKYSIVIGFW
60 70 80 90 100
VGLAVFVIFM FFVLTLLTKT GAPHQDNAES SEKRFRMNSF VSDFGRPLEP
110 120 130 140 150
DKVFSRQGNE ESRSLFHCYI NEVERLDRAK ACHQTTALDS DVQLQEAIRS
160 170 180 190 200
SGQPEEELNR LMKFDIPNFV NTDQNYFGED DLLISEPPIV LETKPLSQTS

HKDLD
Length:205
Mass (Da):23,548
Last modified:March 1, 2004 - v2
Checksum:i3B18B493AE75260B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62F → I in BAC03517 (PubMed:14702039).Curated1

Polymorphismi

Genetic variations in MRAP2 define the body mass index quantitative trait locus 18 (BMIQ18) [MIMi:615457]. Variance in body mass index is a susceptibility factor for obesity.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06998688N → Y Found in a patient with obesity; unknown pathological significance. 1 PublicationCorresponds to variant rs761868293dbSNPEnsembl.1
Natural variantiVAR_069987115L → V Found in a patient with obesity; unknown pathological significance. 1 PublicationCorresponds to variant rs368589399dbSNPEnsembl.1
Natural variantiVAR_069988125R → C Found in a patient with obesity; unknown pathological significance. 1 PublicationCorresponds to variant rs148904867dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090775 mRNA. Translation: BAC03517.1.
AK292736 mRNA. Translation: BAF85425.1.
AL161621 Genomic DNA. Translation: CAI15045.1.
CH471051 Genomic DNA. Translation: EAW48646.1.
BC010003 mRNA. Translation: AAH10003.2.
BC039855 mRNA. Translation: AAH39855.1.
CCDSiCCDS5001.1.
RefSeqiNP_612418.2. NM_138409.2.
XP_011533702.1. XM_011535400.2.
XP_016865708.1. XM_017010219.1.
XP_016865709.1. XM_017010220.1.
UniGeneiHs.370055.

Genome annotation databases

EnsembliENST00000257776; ENSP00000257776; ENSG00000135324.
GeneIDi112609.
KEGGihsa:112609.
UCSCiuc003pkg.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090775 mRNA. Translation: BAC03517.1.
AK292736 mRNA. Translation: BAF85425.1.
AL161621 Genomic DNA. Translation: CAI15045.1.
CH471051 Genomic DNA. Translation: EAW48646.1.
BC010003 mRNA. Translation: AAH10003.2.
BC039855 mRNA. Translation: AAH39855.1.
CCDSiCCDS5001.1.
RefSeqiNP_612418.2. NM_138409.2.
XP_011533702.1. XM_011535400.2.
XP_016865708.1. XM_017010219.1.
XP_016865709.1. XM_017010220.1.
UniGeneiHs.370055.

3D structure databases

ProteinModelPortaliQ96G30.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125195. 55 interactors.
DIPiDIP-48793N.
IntActiQ96G30. 8 interactors.
STRINGi9606.ENSP00000257776.

PTM databases

iPTMnetiQ96G30.
PhosphoSitePlusiQ96G30.

Polymorphism and mutation databases

BioMutaiMRAP2.
DMDMi68565259.

Proteomic databases

PaxDbiQ96G30.
PRIDEiQ96G30.

Protocols and materials databases

DNASUi112609.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257776; ENSP00000257776; ENSG00000135324.
GeneIDi112609.
KEGGihsa:112609.
UCSCiuc003pkg.5. human.

Organism-specific databases

CTDi112609.
DisGeNETi112609.
GeneCardsiMRAP2.
HGNCiHGNC:21232. MRAP2.
HPAiHPA008966.
MalaCardsiMRAP2.
MIMi601665. phenotype.
615410. gene.
615457. phenotype.
neXtProtiNX_Q96G30.
OpenTargetsiENSG00000135324.
PharmGKBiPA162396161.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHNK. Eukaryota.
ENOG4111S4H. LUCA.
GeneTreeiENSGT00650000093438.
HOGENOMiHOG000290703.
HOVERGENiHBG095178.
InParanoidiQ96G30.
OMAiFVNTEQN.
OrthoDBiEOG091G0J7D.
PhylomeDBiQ96G30.
TreeFamiTF338691.

Miscellaneous databases

GenomeRNAii112609.
PROiQ96G30.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135324.
CleanExiHS_MRAP2.
GenevisibleiQ96G30. HS.

Family and domain databases

InterProiIPR028111. MRAP.
[Graphical view]
PfamiPF15183. MRAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMRAP2_HUMAN
AccessioniPrimary (citable) accession number: Q96G30
Secondary accession number(s): A8K9M1, Q8IXM9, Q8N2D1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: March 1, 2004
Last modified: November 30, 2016
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.