Gene
hjv
- ID
- ZDB-GENE-030131-651
- Name
- hemojuvelin BMP co-receptor
- Symbol
- hjv Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable coreceptor activity. Acts upstream of or within notochord development and somite development. Predicted to be located in side of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including axial chorda mesoderm; liver; muscle; notochord; and telencephalon. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 2A. Orthologous to human HJV (hemojuvelin BMP co-receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Gibert et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hemochromatosis type 2A | Alliance | Hemochromatosis, type 2A | 602390 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Repulsive guidance molecule | Repulsive guidance molecule, C-terminal | Repulsive guidance molecule, N-terminal |
|---|---|---|---|---|
|
UniProtKB:Q1JQE7
|
410 |
Interactions and Pathways
No data available
Plasmids
No data available