Thyroid Hormone Receptor Interactor 12

Alternative Names

  • TRIP12
  • Ubiquitin Ligase for Arf
  • ULF

Associated Diseases

Clark-Baraitser Syndrome
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OMIM Number

604506

NCBI Gene ID

9320

Uniprot ID

Q14669

Length

159,398 bases

No. of Exons

50

No. of isoforms

4

Protein Name

E3 ubiquitin-protein ligase TRIP12

Molecular Mass

220434 Da

Amino Acid Count

1992

Genomic Location

chr2:229,763,836-229,923,233

Gene Map Locus
2q36.3

Description

The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004238.1:c.2979dupUnited Arab EmiratesNC_000002.12:g.229802255dupPathogenicLikely PathogenicClark-Baraitser SyndromeNG_053017.1:g.125981dup; NM_004238.1:c.2979dup; NP_004229.1:p.Gly994ArgfsTer51553620494446140
NM_004238.1:c.3446_3447delSaudi ArabiaNC_000002.12:g.229796735_229796736delPathogenicLikely PathogenicClark-Baraitser SyndromeNG_053017.1:g.131499_131500del; NM_004238.1:c.3446_3447del; NP_004229.1:p.Val1148_Ser1149insTer1553614300446139
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