TRF1-Interacting Nuclear Factor 2

Alternative Names

  • TINF2
  • TIN2
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OMIM Number

604319

NCBI Gene ID

26277

Uniprot ID

Q9BSI4

Length

3,035 bases

No. of Exons

6

No. of isoforms

3

Protein Name

TERF1-interacting nuclear factor 2

Molecular Mass

50023 Da

Amino Acid Count

451

Genomic Location

chr14:24,239,639-24,242,673

Gene Map Locus
14q12

Description

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001099274.1:c.734C>AUnited Arab EmiratesNC_000014.9:g.24240746G>TBenign, Likely BenignLikely PathogenicDyskeratosis Congenita, Autosomal Dominant 3NG_016650.1:g.6929C>A; NM_001099274.1:c.734C>A; NP_001092744.1:p.Ser245Tyr14277786938916
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