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:
- IRIDA syndrome Monarch
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)