Seroatlas · Human Serome Atlas

TTI2

TELO2-interacting protein 2

Also known as: C8orf41, FLJ23263, TTI2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6NXR4
Gene
TTI2
Ensembl
ENSG00000129696
Chromosome
8
Canonical length
508 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Centrosome

OverviewNCBI Gene

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

508 residues, UniProt reviewed canonical sequence.

>Q6NXR4|TTI2
     1  MELDSALEAP SQEDSNLSEE LSHSAFGQAF SKILHCLARP EARRGNVKDA VLKDLGDLIE
    61  ATEFDRLFEG TGARLRGMPE TLGQVAKALE KYAAPSKEEE GGGDGHSEAA EKAAQVGLLF
   121  LKLLGKVETA KNSLVGPAWQ TGLHHLAGPV YIFAITHSLE QPWTTPRSRE VAREVLTSLL
   181  QVTECGSVAG FLHGENEDEK GRLSVILGLL KPDLYKESWK NNPAIKHVFS WTLQQVTRPW
   241  LSQHLERVLP ASLVISDDYQ TENKILGVHC LHHIVLNVPA ADLLQYNRAQ VLYHAISNHL
   301  YTPEHHLIQA VLLCLLDLFP ILEKTLHWKG DGARPTTHCD EVLRLILTHM EPEHRLLLRR
   361  TYARNLPAFV NRLGILTVRH LKRLERVIIG YLEVYDGPEE EARLKILETL KLLMQHTWPR
   421  VSCRLVVLLK ALLKLICDVA RDPNLTPESV KSALLQEATD CLILLDRCSQ GRVKGLLAKI
   481  PQSCEDRKVV NYIRKVQQVS EGAPYNGT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTI2 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)
0.27
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • testis: 13 nTPM
  • tonsil: 11 nTPM
  • lymph node: 10 nTPM
  • thymus: 9.9 nTPM
  • parathyroid gland: 9.1 nTPM
  • skeletal muscle: 8.8 nTPM

Single-cell type

  • late primary spermatocytes: 78 nCPM
  • epicardial cells: 73 nCPM
  • myonuclei: 45 nCPM
  • endometrial luminal cells: 40 nCPM
  • retinal horizontal cells: 36 nCPM
  • retinal pigment epithelial cells: 34 nCPM

Immune cell

  • eosinophil: 36 nTPM
  • non-classical monocyte: 28 nTPM
  • T-reg: 25 nTPM
  • intermediate monocyte: 25 nTPM
  • gdT-cell: 24 nTPM
  • naive CD4 T-cell: 24 nTPM

Brain region

  • cerebellum: 9.7 nTPM
  • white matter: 7.9 nTPM
  • pons: 7.7 nTPM
  • cerebral cortex: 7.5 nTPM
  • choroid plexus: 7.5 nTPM
  • hypothalamus: 7.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTI2.

Disease | AllUniProt

Conditions TTI2 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal recessive 39 (MRT39) MIM:615541

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 148 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • Inborn genetic diseases

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)
1.05
gnomAD pLI
0
gnomAD missense Z
-0.29
DepMap mean gene effect
-0.77
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TTI2 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 TTI2 as an antibody target. Whether an autoantibody or antibody against TTI2 could matter depends on whether native TTI2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTI2 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 TTI2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TTI2. 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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