TINF2 Chromosome 14
TERF1 interacting nuclear factor 2
Upload your DNA to see your personal genotypes for variants in TINF2.
What This Gene Does
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]
Gene Info
Gene Group
Shelterin complex
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000092330
Associated Conditions (9)
Dyskeratosis congenita
autosomal dominant 3
Revesz syndrome
autosomal dominant 1
Pulmonary fibrosis
Malignant tumor of breast
TINF2-related disorder
Long telomere syndrome
Hoyeraal-Hreidarsson syndrome
Key Variants
RS1060499576
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome
Health Risk
RS1064795632
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS121918543
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 3, autosomal dominant 1
Health Risk
RS142777869
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 1, Revesz syndrome
Health Risk
RS1566366182
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS192423622
Conflicting classifications of pathogenicity
Dyskeratosis congenita, TINF2-related disorder, Dyskeratosis congenita
Health Risk
RS200320654
Conflicting classifications of pathogenicity
Dyskeratosis congenita, TINF2-related disorder, Long telomere syndrome
Health Risk
RS201677741
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome
Health Risk
RS367835995
Conflicting classifications of pathogenicity
Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3
Health Risk
RS369249473
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Revesz syndrome, autosomal dominant 3
Health Risk
RS746206409
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS750655470
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499576 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome |
| RS1064795632 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS121918543 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 3, autosomal dominant 1 |
| RS142777869 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 1, Revesz syndrome |
| RS1566366182 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS192423622 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, TINF2-related disorder, Dyskeratosis congenita |
| RS200320654 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, TINF2-related disorder, Long telomere syndrome |
| RS201677741 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome |
| RS367835995 | Health Risk | Conflicting classifications of pathogenicity | Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3 |
| RS369249473 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Revesz syndrome, autosomal dominant 3 |
| RS746206409 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS750655470 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS758462532 | Health Risk | Conflicting classifications of pathogenicity | Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3 |
| RS761308889 | Health Risk | Conflicting classifications of pathogenicity | Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3 |
| RS765992492 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Revesz syndrome, autosomal dominant 3 |
| RS779819186 | Health Risk | Conflicting classifications of pathogenicity | Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3 |
| RS886050430 | Health Risk | Conflicting classifications of pathogenicity | Revesz syndrome, Dyskeratosis congenita, autosomal dominant 3 |
| RS886050432 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome |
| RS903141690 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS948013496 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS1555304055 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 3, Dyskeratosis congenita |
| RS199422314 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422316 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS2502455630 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502455736 | Health Risk | Likely pathogenic | TINF2-related disorder, TINF2-related disorder |
| RS2502458156 | Health Risk | Likely pathogenic | — |
| RS121918544 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 3, Revesz syndrome |
| RS121918545 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 3, autosomal dominant 1 |
| RS1594551449 | Health Risk | Pathogenic | Revesz syndrome, Revesz syndrome |
| RS199422315 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS2502455869 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502456306 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2502459528 | Health Risk | Pathogenic | Long telomere syndrome, Long telomere syndrome |
| RS2502468974 | Health Risk | Pathogenic | Long telomere syndrome, Long telomere syndrome |
| RS387907153 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 3, Dyskeratosis congenita |
| RS387907154 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 3, Dyskeratosis congenita |
| RS863223324 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 3, Dyskeratosis congenita |
| RS199422311 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, TINF2-related disorder |