MC2R |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MC2R (HGNC:6930) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- melanocortin 2 receptor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ACTHR
- %HI
- 63.21(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.39(Read more about gnomAD LOEUF score)
- Cytoband
- 18p11.2
- Genomic Coordinates
-
GRCh37/hg19: chr18:13882043-13915706 NCBI Ensembl UCSC GRCh38/hg38: chr18:13882044-13915707 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000529.2 ENST00000327606.4 (Read more about MANE Select)
- Function
- Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). {ECO:0000269|PubMed:19329486, ECO:0000269|PubMed:20371771}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20016
ClinGen Curation ID:
CCID:007441
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- glucocorticoid deficiency 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)