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
184087182008Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).197
189769662008The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.172
189769662008The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.172
208586832010Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.170
198620102009Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.169
198206992009Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.79
198206992009Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.79
198206982009Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.77
198206982009Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.77
209273872010A genome-wide association study of red blood cell traits using the electronic medical record.76

Citation

Dessen P

TMPRSS6 (transmembrane serine protease 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46083/tmprss6-(transmembrane-serine-protease-6)