HJV
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HJV (HGNC:4887) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
hemojuvelin BMP co-receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HFE2
Alias symbols
JH, HFE2A, RGMC, hemojuvelin, haemojuvelin
%HI
43.91(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.15(Read more about gnomAD LOEUF score)
Cytoband
1q21.1
Genomic Coordinates
GRCh37/hg19: chr1:145413278-145417543 NCBI Ensembl UCSC
GRCh38/hg38: chr1:146017470-146021735 NCBI Ensembl UCSC
MANE Select Transcript
NM_213653.4 ENST00000336751.11 (Read more about MANE Select)
Function
Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966). {ECO:0000269|PubMed:18976966}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24328
ClinGen Curation ID:
CCID:007284
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)