TMPRSS6

Chr 22q12.3

transmembrane serine protease 6

Aliases:: FLJ30744, MT2
MANE:: ENST00000676104.1

OMIM: 609862 ↗NCBI: 164656 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TMPRSS6 · Q8IU80

v62025-08-01

Predicted Aligned Error matrix for TMPRSS6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.4/ 100

Confident

811 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)41%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

IRIDA syndrome
0.85
Iron deficiency anemia
0.57
microcytic anemia
0.52
anemia (phenotype)
0.45
iron metabolism disease
0.37
anemia
0.37
polycythemia
0.35
neurodegenerative disease
0.32
hematologic disorder
0.30
inborn carbohydrate metabolic disorder
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane protease serine 6

Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface hemojuvelin (HJV), a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis (PubMed:18408718, PubMed:18976966, PubMed:25156943)