TMPRSS6 (transmembrane serine protease 6)

2007-02-01  

Identity

HGNC
TMPRSS6
LOCATION
22q12.3
LOCUSID
164656
ALIAS
IRIDA,MT2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 164656
MIM: 609862
HGNC: 16517
Ensembl: ENSG00000187045

Variants:

dbSNP: 164656
ClinVar: 164656
TCGA: ENSG00000187045
COSMIC: TMPRSS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187045ENST00000346753Q8IU80
ENSG00000187045ENST00000381792Q8IU80
ENSG00000187045ENST00000406725Q8IU80
ENSG00000187045ENST00000406856Q8IU80
ENSG00000187045ENST00000423761B0QYB6
ENSG00000187045ENST00000429068B0QYB3
ENSG00000187045ENST00000442782X6REP5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490

References

Pubmed IDYearTitleCitations
375785382024Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.0
376058222024Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres.0
379513732024Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.0
380728512024The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.1
382528722024A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.0
383415352024The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).0
375785382024Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.0
376058222024Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres.0
379513732024Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.0
380728512024The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.1
382528722024A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo.0
383415352024The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).0
362610872023TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.0
383097002023Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population.0
362610872023TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.0

Citation

Dessen P

TMPRSS6 (transmembrane serine protease 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46083/tumors-explorer/css/lib/humanGenome