Gene
mc2r
- ID
- ZDB-GENE-030502-2
- Name
- melanocortin 2 receptor
- Symbol
- mc2r Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Enables corticotropin receptor activity. Acts upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; adrenal gland development; and multicellular organismal response to stress. Located in cytoplasm and plasma membrane. Is expressed in adipose tissue; integument; pleuroperitoneal region; and steroid hormone secreting cell. Human ortholog(s) of this gene implicated in West syndrome and glucocorticoid deficiency 1. Orthologous to human MC2R (melanocortin 2 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| glucocorticoid deficiency 1 | Alliance | Glucocorticoid deficiency, due to ACTH unresponsiveness | 202200 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | GPCR, rhodopsin-like, 7TM | G protein-coupled receptor, rhodopsin-like | Melanocortin/ACTH receptor | Melanocortin receptor 3-5 |
|---|---|---|---|---|---|---|
| UniProtKB:Q7ZTA2 | InterPro | 304 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available