TINF2 TERF1 interacting nuclear factor 2
Gene ID: 26277, updated on 10-Oct-2024Gene type: protein coding
Also known as: TIN2; DKCA3
- See all available tests in GTR for this gene
- Go to complete Gene record for TINF2
- Go to Variation Viewer for TINF2 variants
Summary
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. [provided by RefSeq, Mar 2010]
Associated conditions
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| Description | Tests |
|---|---|
| Dyskeratosis congenita, autosomal dominant 1 MedGen: C4551974OMIM: 127550GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Dyskeratosis congenita, autosomal dominant 3 MedGen: C3151445OMIM: 613990GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Revesz syndrome MedGen: C1327916OMIM: 268130GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
Genomic context
- Location:
- 14q12
- Sequence:
- Chromosome: 14; NC_000014.9 (24239640..24242674, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TINF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Telomerase Database, TINF2 mutations
- TINF2 database
- Variation ViewerRelated Variants
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