Gene
TINF2
TERF1 interacting nuclear factor 2
- HGNC 11824↗(opens in a new tab)
- Ensembl gene ENSG00000092330↗(opens in a new tab)
- NCBI Gene 26277↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q12
- Coordinates
- Chromosome 14: 24,239,643–24,242,623 (GRCh38)
- Exons
- 9 exons across 3 kb
- Protein
- 451 amino acids
- Also known as
- TIN2
- MANE Select transcript
- ENST00000267415.12NM_001099274.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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Dyskeratosis Congenita
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How TINF2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 3 kb; 1,356 of those bases code for the protein.
Sequencing TINF2
11
positions in TINF2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3 kb of TINF2, introns included, not only the 1.8 kb of exons.
Genes linked to the same conditions
- ACDACD shelterin complex subunit and telomerase recruitment factorShares 1 condition
- CTC1CST telomere replication complex component 1Shares 1 condition
- DCLRE1BDNA cross-link repair 1BShares 1 condition
- DKC1dyskerin pseudouridine synthase 1Shares 1 condition
- NHP2NHP2 ribonucleoproteinShares 1 condition
- NOP10NOP10 ribonucleoproteinShares 1 condition
- NPM1nucleophosmin 1Shares 1 condition
- PARNpoly(A)-specific ribonucleaseShares 1 condition
- RTEL1regulator of telomere elongation helicase 1Shares 1 condition
- TERCtelomerase RNA componentShares 1 condition
- TERTtelomerase reverse transcriptaseShares 1 condition
- WRAP53WD repeat containing antisense to TP53Shares 1 condition
Traits linked to TINF2
The Human Phenotype Ontology lists these as features of the rare conditions TINF2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Fine, reticulate skin pigmentation
- Poor nail formation
- Abnormal blistering of the skin
- Abnormal fingernails
- Atypical nail growth
- Flat, discolored area of skin
- Hyperpigmented skin patches
- Reticular hyperpigmentation
Show 21 more traits
- Skin degeneration
- Absent/small skin
- Absent/small toenails
- Excessive sweating
- Excessive wrinkled skin
- Generalized hyperpigmentation
- Generalized hypopigmentation of hair
- Open skin sore
- Patchy loss of skin color
- Premature graying of hair
- Reticulated skin pigmentation
- Sparse hair
- Hair loss
- Skin vesicle
- White hair
- Dry skin
- Fine hair
- Grooved nails
- Nail pits
- Ridged fingernail
- Squamous cell carcinoma of the skin
Abnormality of the digestive system
- Abnormal connection between trachea and esophagus
- Anorectal anomaly
- Malabsorption
- Narrowing of esophagus due to inflammation and scar tissue
- Narrowing of the esophagus
- Cancer of the pancreas
- Enlarged liver
- Hepatic necrosis
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). TINF2 gene: TERF1 interacting nuclear factor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/tinf2
Dante Labs. TINF2 gene: TERF1 interacting nuclear factor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tinf2
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