Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4158
MIM: 607397
HGNC: 6930
Ensembl: ENSG00000185231
Variants:
dbSNP: 4158
ClinVar: 4158
TCGA: ENSG00000185231
COSMIC: MC2R
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185231 | ENST00000327606 | Q01718 |
| ENSG00000185231 | ENST00000399821 | R4GMM0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36588120 | 2023 | Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1. | 5 |
| 36909322 | 2023 | A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. | 1 |
| 37994136 | 2023 | [Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene]. | 0 |
| 36588120 | 2023 | Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1. | 5 |
| 36909322 | 2023 | A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. | 1 |
| 37994136 | 2023 | [Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene]. | 0 |
| 36291631 | 2022 | Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells. | 1 |
| 36291631 | 2022 | Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells. | 1 |
| 33104153 | 2021 | Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study. | 1 |
| 33395217 | 2021 | Sex-specific association of MC2R polymorphisms and the risk of major depressive disorder in Chinese Southern Han. | 1 |
| 34266338 | 2021 | A variant in the 3'-untranslated region of the MC2R gene decreases the risk of schizophrenia in a female Han Chinese population. | 2 |
| 33104153 | 2021 | Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study. | 1 |
| 33395217 | 2021 | Sex-specific association of MC2R polymorphisms and the risk of major depressive disorder in Chinese Southern Han. | 1 |
| 34266338 | 2021 | A variant in the 3'-untranslated region of the MC2R gene decreases the risk of schizophrenia in a female Han Chinese population. | 2 |
| 30553806 | 2019 | Amino acid residue L112 in the ACTH receptor plays a key role in ACTH or α-MSH selectivity. | 2 |
Citation
Dessen P
MC2R (melanocortin 2 receptor)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49875/mc2r
