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)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hemochromatosis type 2A Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)