Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4158
Gene name Gene Name - the full gene name approved by the HGNC.
Melanocortin 2 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MC2R
Synonyms (NCBI Gene) Gene synonyms aliases
ACTHR
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.
MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activa
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940892 T>C Pathogenic Coding sequence variant, missense variant
rs104894656 G>A,C Pathogenic Coding sequence variant, missense variant, synonymous variant
rs104894657 G>A Pathogenic Coding sequence variant, missense variant
rs104894658 C>A Pathogenic Coding sequence variant, missense variant
rs104894659 G>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT723428 hsa-miR-676-5p HITS-CLIP 19536157
MIRT723427 hsa-miR-4778-3p HITS-CLIP 19536157
MIRT723426 hsa-miR-103a-2-5p HITS-CLIP 19536157
MIRT723425 hsa-miR-409-5p HITS-CLIP 19536157
MIRT723424 hsa-miR-3671 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
CREB1 Activation 17712720
CREM Activation 17712720
CREM Repression 17712720
NR5A1 Activation 20650879
NR5A1 Unknown 10811295
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001890 Process Placenta development IEA
GO:0004930 Function G protein-coupled receptor activity IBA 21873635
GO:0004977 Function Melanocortin receptor activity TAS 1325670
GO:0004978 Function Corticotropin receptor activity IEA
GO:0005515 Function Protein binding IPI 18077336, 18840636, 19151134, 19329486, 28298427
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607397 6930 ENSG00000185231
Protein
UniProt ID Q01718
Protein name Adrenocorticotropic hormone receptor (ACTH receptor) (ACTH-R) (Adrenocorticotropin receptor) (Melanocortin receptor 2) (MC2-R)
Protein function Hormone receptor primarily expressed in adrenal cortex that plays a key role in regulating adrenocortical function (PubMed:36588120). Upon corticotropin (ACTH) binding, facilitates the release of adrenal glucocorticoids, including cortisol and c
PDB 8GY7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 41 276 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Melanocytes and corticoadrenal tissue.
Sequence
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
  Peptide ligand-binding receptors
G alpha (s) signalling events
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Glucocorticoid deficiency Familial Glucocorticoid Deficiency Type 1, Familial glucocorticoid deficiency rs566223651, rs80358231, rs1569025178, rs104894658, rs104894659, rs104894656, rs104894657, rs104894661, rs104894662, rs104894660, rs28940892, rs267607231, rs387907232, rs786205344, rs387907233
View all (22 more)
8094489, 18492762, 17128564, 8227361, 10971458, 8069303, 12213892, 8636348
Unknown
Disease term Disease name Evidence References Source
Glucocorticoid Deficiency glucocorticoid deficiency 1, familial glucocorticoid deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 9758716
Addison Disease Associate 26523528
Adrenal Hyperplasia Congenital Associate 24884994, 34616364
Adrenal Insufficiency Associate 17223989, 39956565
Adrenocortical Adenoma Associate 11420487
Arthritis Rheumatoid Associate 28426141
Carcinoma Ovarian Epithelial Associate 27378695
Cardiovascular Diseases Associate 29227965
CATSHL syndrome Associate 19558534
Cerebral Palsy Associate 23695280