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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TINF2
TERF1 interacting nuclear factor 2
Chromosome 14 Β· 14q12
NCBI Gene: 26277Ensembl: ENSG00000092330.19HGNC: HGNC:11824UniProt: B4DFJ1
106PubMed Papers
2Diseases
0Drugs
25Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA bindingprotein bindingtelomeric repeat DNA bindingtelomere cappingDyskeratosis congenita, autosomal dominant, 3Dyskeratosis congenita, autosomal dominant, 5
✦AI Summary

TINF2 encodes a critical component of the shelterin complex (telosome), a protein assembly that protects telomeres and regulates telomere length 1. As a member of the shelterin complex, TINF2 associates with telomeric TTAGGG repeat arrays and prevents inappropriate recognition of chromosome 14 as DNA breaks, thereby protecting them from aberrant DNA repair pathways 1. TINF2 plays an important role in shelterin complex assembly and may tether telomeres to the nuclear matrix 2. The gene is expressed as a housekeeping gene across diverse tissues 2. Pathogenic TINF2 variants cause autosomal dominant dyskeratosis congenita (DC) and related telomere biology disorders (TBDs), characterized by critically short telomeres and multisystem manifestations 13. Patients with TINF2 mutations experience severe bone marrow failure, liver disease, and gastrointestinal complications, with significantly worse survival outcomes compared to other inherited telomere disorders 3. TINF2-mutant individuals also show elevated cancer risk, particularly for solid tumors following organ transplantation 4. Additionally, TINF2 dysregulation has been associated with psychiatric conditions; reduced TINF2 expression emerged as a biomarker for suicidality risk in psychiatric patients 5. These findings establish TINF2 as essential for telomere maintenance and protection, with its dysfunction causing severe inherited bone marrow failure syndromes.

Sources cited
1
TINF2 encodes a shelterin complex component involved in telomere maintenance and protection; TINF2 mutations cause dyskeratosis congenita
PMID: 22160078
2
TINF2 variants are associated with severe bone marrow failure, liver disease, gastrointestinal telangiectasias, and worse survival outcomes in telomere biology disorders
PMID: 34852175
3
Individuals with TINF2 mutations show high cumulative incidence for transplant or death and elevated cancer risk post-transplantation
PMID: 39661387
4
TINF2 gene organization and chromosomal localization; TINF2 is expressed as a housekeeping gene; acts as negative regulator of telomere length
PMID: 11368852
5
TINF2 reduced expression is a top decreased biomarker for suicidality risk in psychiatric patients
PMID: 39242534
Disease Associationsβ“˜2
Dyskeratosis congenita, autosomal dominant, 3UniProt
Dyskeratosis congenita, autosomal dominant, 5UniProt
Pathogenic Variants25
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)Pathogenic
Dyskeratosis congenita, autosomal dominant 3|Revesz syndrome|not provided|Dyskeratosis congenita|Revesz syndrome;Dyskeratosis congenita, autosomal dominant 3;Dyskeratosis congenita, autosomal dominant 1
β˜…β˜…β˜†β˜†2025β†’ Residue 282
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)Pathogenic
Dyskeratosis congenita, autosomal dominant 3|Dyskeratosis congenita, autosomal dominant 1|not provided|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2024β†’ Residue 282
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)Pathogenic
Dyskeratosis congenita, autosomal dominant 1|not provided|TINF2-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 283
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1|not provided|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2021β†’ Residue 287
NM_001099274.3(TINF2):c.848_849dup (p.Thr284fs)Pathogenic
Dyskeratosis congenita, autosomal dominant 3
β˜…β˜†β˜†β˜†2025β†’ Residue 284
NM_001099274.3(TINF2):c.1044del (p.Ala349fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 349
NM_001099274.3(TINF2):c.399+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001099274.3(TINF2):c.848C>T (p.Pro283Leu)Likely pathogenic
Dyskeratosis congenita, autosomal dominant 3;Revesz syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 283
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)Pathogenic
Dyskeratosis congenita, autosomal dominant 3|Dyskeratosis congenita, autosomal dominant 1|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 280
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)Likely pathogenic
Dyskeratosis congenita
β˜…β˜†β˜†β˜†2023β†’ Residue 290
NM_001099274.3(TINF2):c.857dup (p.Met286fs)Likely pathogenic
TINF2-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 286
NM_001099274.3(TINF2):c.623C>G (p.Ser208Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 208
NM_001099274.3(TINF2):c.849dup (p.Thr284fs)Pathogenic
Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita
β˜…β˜†β˜†β˜†2022β†’ Residue 284
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita
β˜…β˜†β˜†β˜†2022β†’ Residue 284
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)Pathogenic
Dyskeratosis congenita
β˜…β˜†β˜†β˜†2020β†’ Residue 272
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)Pathogenic
Dyskeratosis congenita, autosomal dominant 3|Dyskeratosis congenita, autosomal dominant 1|Dyskeratosis congenita
β˜…β˜†β˜†β˜†2020β†’ Residue 282
NM_001099274.3(TINF2):c.865C>T (p.Pro289Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 289
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)Pathogenic
Dyskeratosis congenita
β˜…β˜†β˜†β˜†2015β†’ Residue 284
NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala)Likely pathogenic
Dyskeratosis congenita, autosomal dominant 3
β˜…β˜†β˜†β˜†β†’ Residue 289
NM_001099274.3(TINF2):c.1A>G (p.Met1Val)Pathogenic
Long telomere syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 1
View on ClinVar β†—
Related Genes
TPP1Protein interaction100%WRNProtein interaction100%TNKSProtein interaction100%STAG1Protein interaction100%DCLRE1BProtein interaction100%WRAP53Protein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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TINF2TPP1WRNTNKSSTAG1DCLRE1BWRAP53
PROTEIN STRUCTURE
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PDB3BQO Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.37–0.69]
RankingsWhere TINF2 stands among ~20K protein-coding genes
  • #4,505of 20,598
    Most Researched106 Β· top quartile
  • #1,979of 5,498
    Most Pathogenic Variants25
  • #5,175of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedTINF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dyskeratosis congenita.
PMID: 22160078
Hematology Am Soc Hematol Educ Program Β· 2011
1.00
2
[Telomeres and lung].
PMID: 35715316
Rev Mal Respir Β· 2022
0.90
3
Disease progression and clinical outcomes in telomere biology disorders.
PMID: 34852175
Blood Β· 2022
0.80
4
Revesz syndrome revisited.
PMID: 33097095
Orphanet J Rare Dis Β· 2020
0.70
5
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
PMID: 39661387
JAMA Netw Open Β· 2024
0.60