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FLASH GENE
Symbol TPST2 contributors: mct/npt/pgu - updated : 18-08-2009
HGNC name tyrosylprotein sulfotransferase 2
HGNC id 12021
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
in shear stress, mediated by a protein kinase C-dependent pathway
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • growth-retarded (grt) mouse, an autosomal recessive, fetal-onset, severe thyroid hypoplasia related to TSH hyporesponsiveness with mutation tyrosylprotein sulfotransferase 2 (Tpst2)
  • Tpst2-deficient mice have male infertility, sperm motility defects, and possible abnormalities in sperm-egg membrane interactions