CDB25:0003708 HJV — HFE

Experimentally validated in Human; Orthology-inferred in Mouse, Rat, Zebrafish, Chicken, Macaque, Pig, Dog, Cow, Chimp, Horse, Marmoset, Sheep

Title

Journal:; Year Published:

Abstract

The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.

Journal of hepatology, 2012; PubMed, Homo sapiens HJV — Homo sapiens HFE

ABSTRACT: The hereditary hemochromatosis-associated membrane proteins HFE, TfR2, and HJV are required for adequate hepatic expression of the iron hormone hepcidin. While the genetic interactions are clear, it remains elusive how bone morphogenetic protein co-receptor HJV functions together with HFE and TfR2 to activate hepcidin transcription via the BMP-SMAD signaling pathway. Here, we investigate whether HFE, TfR2, and HJV physically interact on the surface of hepatocytes.

Basic Information on HJV

Ligand Name: hemojuvelin BMP co-receptor

Other Symbols: HFE2, JH, HFE2A, RGMC, hemojuvelin, haemojuvelin

Ligand Location: secreted based on perplexity, cell membrane based on perplexity, uniprot

HGNC Gene Symbol Report: HJV

GeneCards: HJV

HGNC Gene Group: Repulsive guidance molecule family

Functional Annotations for HJV

Gene Ontologies: PAN-GO, AmiGO 2

Expression Profile: Human Protein Atlas (RNA and protein), Human Cell Atlas (RNA), GEPIA cancer vs normal (RNA), GeneCards (RNA and protein)

Disease Annotations: MalaCards, OMIM, Open Targets Platform, DISEASES (text mining), AI summary (LLM)

Interactions with other Receptors for HJV

Basic Information on HFE

Receptor Name: homeostatic iron regulator

Other Symbols: HLA-H, HFE1

Receptor Location: cell membrane based on hpa, perplexity, uniprot

HGNC Gene Symbol Report: HFE

GeneCards: HFE

HGNC Gene Group: Immunoglobulin superfamily domain containing

Functional Annotations for HFE

Gene Ontologies: PAN-GO, AmiGO 2

Expression Profile: Human Protein Atlas (RNA and protein), Human Cell Atlas (RNA), GEPIA cancer vs normal (RNA), GeneCards (RNA and protein)

Disease Annotations: MalaCards, OMIM, Open Targets Platform, DISEASES (text mining), AI summary (LLM)

Interactions with other Ligands for HFE

B2M — HFE