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Protein

Melanocortin-2 receptor accessory protein 2

Gene

MRAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ96G30

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

EuPathDBiHostDB:ENSG00000135324.5
HGNCiHGNC:21232 MRAP2
MIMi615410 gene
neXtProtiNX_Q96G30

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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...) asparagine1 Publication1
Modified residuei89PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ96G30
PeptideAtlasiQ96G30
PRIDEiQ96G30
ProteomicsDBi76591

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 Expressed in 167 organ(s), highest expression level in thoracic aorta
CleanExiHS_MRAP2
GenevisibleiQ96G30 HS

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125195, 62 interactors
DIPiDIP-48793N
IntActiQ96G30, 10 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
OMAiTGAPHQE
OrthoDBiEOG091G0J7D
PhylomeDBiQ96G30
TreeFamiTF338691

Family and domain databases

InterProiView protein in InterPro
IPR028111 MRAP
PANTHERiPTHR28675 PTHR28675, 1 hit
PfamiView protein in Pfam
PF15183 MRAP, 1 hit

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 dbSNP:rs761868293Ensembl.1
Natural variantiVAR_069987115L → V Found in a patient with obesity; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368589399Ensembl.1
Natural variantiVAR_069988125R → C Found in a patient with obesity; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148904867Ensembl.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 No translation available.
CH471051 Genomic DNA Translation: EAW48646.1
BC010003 mRNA Translation: AAH10003.2
BC039855 mRNA Translation: AAH39855.1
CCDSiCCDS5001.1
RefSeqiNP_001333470.1, NM_001346541.1
NP_001333471.1, NM_001346542.1
NP_001333473.1, NM_001346544.1
NP_612418.2, NM_138409.3
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

Similar proteinsi

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 No translation available.
CH471051 Genomic DNA Translation: EAW48646.1
BC010003 mRNA Translation: AAH10003.2
BC039855 mRNA Translation: AAH39855.1
CCDSiCCDS5001.1
RefSeqiNP_001333470.1, NM_001346541.1
NP_001333471.1, NM_001346542.1
NP_001333473.1, NM_001346544.1
NP_612418.2, NM_138409.3
XP_016865709.1, XM_017010220.1
UniGeneiHs.370055

3D structure databases

ProteinModelPortaliQ96G30
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125195, 62 interactors
DIPiDIP-48793N
IntActiQ96G30, 10 interactors
STRINGi9606.ENSP00000257776

PTM databases

iPTMnetiQ96G30
PhosphoSitePlusiQ96G30

Polymorphism and mutation databases

BioMutaiMRAP2
DMDMi68565259

Proteomic databases

PaxDbiQ96G30
PeptideAtlasiQ96G30
PRIDEiQ96G30
ProteomicsDBi76591

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
EuPathDBiHostDB:ENSG00000135324.5
GeneCardsiMRAP2
HGNCiHGNC:21232 MRAP2
MalaCardsiMRAP2
MIMi601665 phenotype
615410 gene
615457 phenotype
neXtProtiNX_Q96G30
OpenTargetsiENSG00000135324
PharmGKBiPA162396161
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHNK Eukaryota
ENOG4111S4H LUCA
GeneTreeiENSGT00650000093438
HOGENOMiHOG000290703
HOVERGENiHBG095178
InParanoidiQ96G30
OMAiTGAPHQE
OrthoDBiEOG091G0J7D
PhylomeDBiQ96G30
TreeFamiTF338691

Enzyme and pathway databases

SIGNORiQ96G30

Miscellaneous databases

GenomeRNAii112609
PROiPR:Q96G30
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135324 Expressed in 167 organ(s), highest expression level in thoracic aorta
CleanExiHS_MRAP2
GenevisibleiQ96G30 HS

Family and domain databases

InterProiView protein in InterPro
IPR028111 MRAP
PANTHERiPTHR28675 PTHR28675, 1 hit
PfamiView protein in Pfam
PF15183 MRAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMRAP2_HUMAN
AccessioniPrimary (citable) accession number: Q96G30
Secondary accession number(s): A8K9M1, Q8IXM9, Q8N2D1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: March 1, 2004
Last modified: November 7, 2018
This is version 122 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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