Seroatlas · Human Serome Atlas

TINF2

TERF1-interacting nuclear factor 2

Also known as: TIN2, TINF2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BSI4
Gene
TINF2
Ensembl
ENSG00000092330
Chromosome
14
Canonical length
451 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>Q9BSI4|TINF2
     1  MATPLVAGPA ALRFAAAASW QVVRGRCVEH FPRVLEFLRS LRAVAPGLVR YRHHERLCMG
    61  LKAKVVVELI LQGRPWAQVL KALNHHFPES GPIVRDPKAT KQDLRKILEA QETFYQQVKQ
   121  LSEAPVDLAS KLQELEQEYG EPFLAAMEKL LFEYLCQLEK ALPTPQAQQL QDVLSWMQPG
   181  VSITSSLAWR QYGVDMGWLL PECSVTDSVN LAEPMEQNPP QQQRLALHNP LPKAKPGTHL
   241  PQGPSSRTHP EPLAGRHFNL APLGRRRVQS QWASTRGGHK ERPTVMLFPF RNLGSPTQVI
   301  SKPESKEEHA IYTADLAMGT RAASTGKSKS PCQTLGGRAL KENPVDLPAT EQKENCLDCY
   361  MDPLRLSLLP PRARKPVCPP SLCSSVITIG DLVLDSDEEE NGQGEGKESL ENYQKTKFDT
   421  LIPTLCEYLP PSGHGAIPVS SCDCRDSSRP L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TINF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.52
Highest tissue expression
219 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 219 nTPM
  • adrenal gland: 53 nTPM
  • esophagus: 47 nTPM
  • blood vessel: 42 nTPM
  • spleen: 41 nTPM
  • adipose tissue: 38 nTPM

Single-cell type

  • early primary spermatocytes: 15 nCPM
  • differentiating spermatogonia: 14 nCPM
  • bergmann glia: 8.7 nCPM
  • late spermatids: 8.6 nCPM
  • oligodendrocytes: 7.9 nCPM
  • other brain neurons: 7.1 nCPM

Immune cell

  • basophil: 121 nTPM
  • eosinophil: 109 nTPM
  • total PBMC: 69 nTPM
  • naive B-cell: 61 nTPM
  • NK-cell: 60 nTPM
  • T-reg: 59 nTPM

Brain region

  • medulla oblongata: 14 nTPM
  • white matter: 13 nTPM
  • hypothalamus: 13 nTPM
  • thalamus: 13 nTPM
  • cerebellum: 13 nTPM
  • pons: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TINF2.

Disease | AllUniProt

Conditions TINF2 is implicated in, by any mechanism.

  • Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) MIM:613990
  • Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) MIM:268130

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 716 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.67
gnomAD pLI
0
gnomAD missense Z
0.73
DepMap mean gene effect
-1.36
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • TERF1-interacting nuclear factor 2, N-terminal domain
  • TERF1-interacting nuclear factor 2
  • TERF1-interacting nuclear factor 2 N-terminus

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TINF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TINF2 as an antibody target. Whether an autoantibody or antibody against TINF2 could matter depends on whether native TINF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TINF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TINF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TINF2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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