TSHZ2

Chr 20

teashirt zinc finger homeobox 2

Also known as: C20orf17, OVC10-2, TSH2, ZABC2, ZNF218

NCBI Gene: 128553 ENSG00000182463 UniProt: Q9NRE2

TSHZ2 encodes a transcriptional repressor containing zinc fingers and a homeobox DNA-binding domain that regulates developmental processes. Mutations cause autosomal dominant developmental delays, intellectual disability, and congenital anomalies including heart defects and genitourinary malformations. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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