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

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4161
Gene name Gene Name - the full gene name approved by the HGNC.	Melanocortin 5 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MC5R
Synonyms (NCBI Gene) Gene synonyms aliases	MC2
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004977	Function	Melanocortin receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19329486
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	7739752
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7739752
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486
GO:0019222	Process	Regulation of metabolic process	IBA	21873635
GO:0042562	Function	Hormone binding	IEA

MIM	HGNC	e!Ensembl
600042	6933	ENSG00000176136

Protein

UniProt ID

P33032

Protein name

Melanocortin receptor 5 (MC5-R) (MC-2)

Protein function

Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins.

PDB

8INR , 8IOD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	53 → 295	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain but not in the melanoma cells.

Sequence

MNSSFHLHFLDLNLNATEGNLSGPNVKNKSSPCEDMGIAVEVFLTLGVISLLENILVIGA
IVKNKNLHSPMYFFVCSLAVADMLVSMSSAWETITIYLLNNKHLVIADAFVRHIDNVFDS
MICISVVASMCSLLAIAVDRYVTIFYALRYHHIMTARRSGAIIAGIWAFCTGCGIVFILY
SESTYVILCLISMFFAMLFLLVSLYIHMFLLARTHVKRIAALPGASSARQRTSMQGAVTV
TMLLGVFTVCWAPFFLHLTLMLSCPQNLYCSRFMSHFNMYLILIMCNSVMDPLIYAFRSQ
EMRKTFKEIICCRGFRIACSFPRRD

Sequence length

325

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling		Peptide ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19502010

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Acne Vulgaris	Associate	11286624
Adenoma	Associate	11286624
Carcinoma Hepatocellular	Associate	36860731
Depressive Disorder Major	Associate	35955479
Diabetes Mellitus Type 2	Associate	18551113, 35955479
Dyslexia	Associate	21060895
Hidradenitis	Associate	11286624
Hyperplasia	Associate	11286624
Melanoma	Associate	22400038
Neoplasms	Associate	1974266, 36860731
Obesity	Associate	18551113, 9392003

MC5R (melanocortin 5 receptor)