Gene Gene information from NCBI Gene database.
Entrez ID 4158
Gene name Melanocortin 2 receptor
Gene symbol MC2R
Synonyms (NCBI Gene)
ACTHR
Chromosome 18
Chromosome location 18p11.21
Summary 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.
21
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.
678
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 factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CREB1 Activation 17712720
CREM Activation 17712720
CREM Repression 17712720
NR5A1 Activation 20650879
NR5A1 Unknown 10811295
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004977 Function Melanocortin receptor activity IEA
GO:0004977 Function Melanocortin receptor activity TAS 1325670
GO:0004978 Function Corticotropin receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607397 6930 ENSG00000185231
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glucocorticoid Deficiency Pathogenic; Likely pathogenic rs104894658, rs104894660, rs1555619430, rs1226345778, rs762692123, rs1555619406, rs1555619429, rs139218324, rs1208417750 RCV000583288
RCV000584506
RCV000584664
RCV000582443
RCV000584352
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucocorticoid deficiency 1 Likely pathogenic; Pathogenic rs761911005, rs1567895448, rs104894658, rs104894659, rs104894656, rs104894657, rs104894661, rs749254899, rs104894662, rs104894660, rs28940892, rs267607231, rs1555619377, rs1555619430, rs199950178
View all (4 more)
RCV001702041
RCV002254418
RCV000003414
RCV000003415
RCV000003416
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aarskog syndrome Aarskog Syndrome BEFREE 10698592, 11012566, 12110946, 12384787, 15673970, 16868047, 17128565, 17893271, 18059087, 18426811, 18492762, 18493136, 19170705, 19423561, 19558534
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 12456795, 20660048
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma LHGDN 14671214
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 12851321, 14557433
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11281372, 11420487, 11701665, 28879651, 7883845, 9167964, 9284742, 9582497, 9694578, 9888585
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 11420487
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma LHGDN 18505908
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 12851321, 14557433
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Diseases Adrenal Gland Diseases BEFREE 9167964
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 15241732, 28879651, 9167964, 9888585
★☆☆☆☆
Found in Text Mining only