Seroatlas · Human Serome Atlas

TOR1AIP2

Torsin-1A-interacting protein 2

Also known as: IFRG15, LULL1, NET9, TOIP2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NFQ8
Gene
TOR1AIP2
Ensembl
ENSG00000169905
Chromosome
1
Canonical length
470 aa
Protein class
Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

470 residues, UniProt reviewed canonical sequence.

>Q8NFQ8|TOR1AIP2
     1  MADSGLREPQ EDSQKDLEND PSVNSQAQET TIIASNAEEA EILHSACGLS KDHQEVETEG
    61  PESADTGDKS ESPDEANVGK HPKDKTEDEN KQSFLDGGKG HHLPSENLGK EPLDPDPSHS
   121  PSDKVGRADA HLGSSSVALP KEASDGTGAS QEPPTTDSQE AQSPGHSSAG QEGEDTLRRR
   181  LLAPEAGSHP QQTQKLEEIK ENAQDTMRQI NKKGFWSYGP VILVVLVVAV VASSVNSYYS
   241  SPAQQVPKNP ALEAFLAQFS QLEDKFPGQS SFLWQRGRKF LQKHLNASNP TEPATIIFTA
   301  AREGRETLKC LSHHVADAYT SSQKVSPIQI DGAGRTWQDS DTVKLLVDLE LSYGFENGQK
   361  AAVVHHFESF PAGSTLIFYK YCDHENAAFK DVALVLTVLL EEETLEASVG PRETEEKVRD
   421  LLWAKFTNSD TPTSFNHMDS DKLSGLWSRI SHLVLPVQPV SSIEEQGCLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TOR1AIP2 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 39 nTPM
  • liver: 39 nTPM
  • placenta: 21 nTPM
  • small intestine: 19 nTPM
  • epididymis: 18 nTPM
  • adrenal gland: 18 nTPM

Single-cell type

  • esophageal apical cells: 439 nCPM
  • enterocytes: 356 nCPM
  • extravillous trophoblasts: 314 nCPM
  • hepatocytes: 307 nCPM
  • syncytiotrophoblasts: 258 nCPM
  • neutrophils: 235 nCPM

Immune cell

  • basophil: 21 nTPM
  • neutrophil: 13 nTPM
  • plasmacytoid DC: 8.9 nTPM
  • intermediate monocyte: 8.2 nTPM
  • non-classical monocyte: 8.2 nTPM
  • eosinophil: 7.6 nTPM

Brain region

  • choroid plexus: 51 nTPM
  • midbrain: 49 nTPM
  • hypothalamus: 49 nTPM
  • hippocampal formation: 46 nTPM
  • pons: 45 nTPM
  • thalamus: 45 nTPM

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)
1.4
gnomAD pLI
0
gnomAD missense Z
0.8
DepMap mean gene effect
-0.23
DepMap dependency class
selective

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TOR1AIP2 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 TOR1AIP2 as an antibody target. Whether an autoantibody or antibody against TOR1AIP2 could matter depends on whether native TOR1AIP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TOR1AIP2 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 TOR1AIP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TOR1AIP2. 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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