TMPRSS6

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMPRSS6 (HGNC:16517) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane serine protease 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ30744, MT2
%HI
54.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.72(Read more about gnomAD LOEUF score)
Cytoband
22q12.3
Genomic Coordinates
GRCh37/hg19: chr22:37461476-37505753 NCBI Ensembl UCSC
GRCh38/hg38: chr22:37065436-37110536 NCBI Ensembl UCSC
MANE Select Transcript
NM_001374504.1 ENST00000676104.1 (Read more about MANE Select)
Function
Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis (PubMed:25156943, PubMed:18408718, PubMed:18976966). {ECO:0000269|PubMed:18408718, ECO:0000269|PubMed:18976966, ECO:0000269|PubMed:20518742, ECO:0000269|PubMed:25156943, ECO:0000269|PubMed:25588876, ECO:0000303|PubMed:25156943}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20439
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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 Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)