Gene

hjv

ID

ZDB-GENE-030131-651

Name

hemojuvelin BMP co-receptor

Symbol

hjv Nomenclature History

Previous Names

hjv (1)
DL-M (1)
hemojuvelin (1)
HFE2 (1)
hfe2
id:ibd3464 (1)
RGMC (1)
wu:fb38f10 (1)
zgc:136698 (1)

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to have coreceptor activity. Involved in notochord development and somite development. Predicted to localize to anchored component of plasma membrane. Is expressed in axial chorda mesoderm; liver; muscle; notochord; and somite. 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

Expression

All Expression Data

12 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from Gibert et al., 2011
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hjv Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hemochromatosis type 2A	Alliance	Hemochromatosis, type 2A	602390

Associated With hjv Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR009496	Repulsive guidance molecule, C-terminal
Domain	IPR010536	Repulsive guidance molecule, N-terminal
Family	IPR040287	Repulsive guidance molecule