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Aliases for TOR1AIP2 Gene

Aliases for TOR1AIP2 Gene

  • Torsin 1A Interacting Protein 2 2 3 5
  • 15 KDa Interferon-Responsive Protein 3 4
  • Torsin A Interacting Protein 2 2 3
  • IFRG15 3 4
  • LULL1 3 4
  • Interferon Alpha Responsive Protein 3
  • Torsin-1A-Interacting Protein 2 3
  • Interferon Responsive Gene 15 3
  • Lumenal Domain Like LAP1 3
  • Lumenal Domain-Like LAP1 4
  • NET9 3

External Ids for TOR1AIP2 Gene

Previous GeneCards Identifiers for TOR1AIP2 Gene

  • GC01M176546
  • GC01M178075
  • GC01M179809
  • GC01M151044
  • GC01M179884
  • GC01M180102
  • GC01M180225
  • GC01M180321
  • GC01M180421

Summaries for TOR1AIP2 Gene

Entrez Gene Summary for TOR1AIP2 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]

GeneCards Summary for TOR1AIP2 Gene

TOR1AIP2 (Torsin 1A Interacting Protein 2) is a Protein Coding gene. Diseases associated with TOR1AIP2 include Neuromuscular Disease. GO annotations related to this gene include ATPase binding and ATPase activator activity. An important paralog of this gene is TOR1AIP1.

UniProtKB/Swiss-Prot for TOR1AIP2 Gene

  • Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR1AIP2 Gene

Genomics for TOR1AIP2 Gene

Regulatory Elements for TOR1AIP2 Gene

Enhancers for TOR1AIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G180116 1.5 Ensembl ENCODE dbSUPER 10 -239.8 -239774 2.1 FOXA2 MLX CREB3L1 ARNT ARID4B FOS SP5 MXD4 KAT8 MIER3 QSOX1 TOR1AIP2 TOR1AIP1 ENSG00000261831 ENSG00000261817 RPS24P5
GH01G179875 1.4 ENCODE dbSUPER 8.2 +0.8 811 3.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143 LHX4 ENSG00000261831 TOR1AIP2 PIR31353
GH01G180178 1 ENCODE dbSUPER 10.6 -301.2 -301225 0.1 CTCF RB1 SUZ12 FEZF1 RAD21 GATA3 SMC3 ZNF143 DEK STAT1 QSOX1 TOR1AIP1 TOR1AIP2 PIR48513 GC01P180178 FLJ23867
GH01G180026 1 FANTOM5 ENCODE 10.5 -149.7 -149692 2.5 JUN YY1 ZNF316 RELB FOS MAFK CREM SCRT1 JUNB CEBPB TOR1AIP1 TOR1AIP2 ENSG00000261831 CEP350 RPS24P5 ENSG00000261817
GH01G179930 0.9 ENCODE 10.6 -53.3 -53275 0.2 FEZF1 BRCA1 FOS DEK SP3 TSHZ1 ZNF518A MAFF STAT3 SP7 TOR1AIP1 TOR1AIP2 GC01P179922 ENSG00000261831
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOR1AIP2 on UCSC Golden Path with GeneCards custom track

Promoters for TOR1AIP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016491 606 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143

Genomic Location for TOR1AIP2 Gene

Chromosome:
1
Start:
179,839,967 bp from pter
End:
179,877,806 bp from pter
Size:
37,840 bases
Orientation:
Minus strand

Genomic View for TOR1AIP2 Gene

Genes around TOR1AIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR1AIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR1AIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR1AIP2 Gene

Proteins for TOR1AIP2 Gene

  • Protein details for TOR1AIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFQ8-TOIP2_HUMAN
    Recommended name:
    Torsin-1A-interacting protein 2
    Protein Accession:
    Q8NFQ8

    Protein attributes for TOR1AIP2 Gene

    Size:
    470 amino acids
    Molecular mass:
    51263 Da
    Quaternary structure:
    • Interacts with TOR1A and TOR1B (ATP-bound).

    Three dimensional structures from OCA and Proteopedia for TOR1AIP2 Gene

    Alternative splice isoforms for TOR1AIP2 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for TOR1AIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H496-IFG15_HUMAN
    Recommended name:
    Torsin-1A-interacting protein 2, isoform IFRG15
    Protein Accession:
    Q9H496
    Secondary Accessions:
    • Q05BU2

    Protein attributes for TOR1AIP2 Gene

    Size:
    131 amino acids
    Molecular mass:
    15348 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32790.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for TOR1AIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR1AIP2 Gene

Post-translational modifications for TOR1AIP2 Gene

No data available for DME Specific Peptides for TOR1AIP2 Gene

Domains & Families for TOR1AIP2 Gene

Protein Domains for TOR1AIP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFQ8

UniProtKB/Swiss-Prot:

IFG15_HUMAN :
  • Belongs to the TOR1AIP family.
Family:
  • Belongs to the TOR1AIP family.
genes like me logo Genes that share domains with TOR1AIP2: view

No data available for Gene Families for TOR1AIP2 Gene

Function for TOR1AIP2 Gene

Molecular function for TOR1AIP2 Gene

UniProtKB/Swiss-Prot Induction:
Induced by interferon alpha.
UniProtKB/Swiss-Prot Function:
Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.

Gene Ontology (GO) - Molecular Function for TOR1AIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 23569223
GO:0005515 protein binding IPI --
GO:0051117 ATPase binding IPI 23569223
genes like me logo Genes that share ontologies with TOR1AIP2: view
genes like me logo Genes that share phenotypes with TOR1AIP2: view

Animal Model Products

CRISPR Products

miRNA for TOR1AIP2 Gene

miRTarBase miRNAs that target TOR1AIP2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR1AIP2 Gene

Localization for TOR1AIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR1AIP2 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOR1AIP2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOR1AIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 24275647
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TOR1AIP2: view

Pathways & Interactions for TOR1AIP2 Gene

SuperPathways for TOR1AIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOR1AIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007029 endoplasmic reticulum organization IMP 24275647
GO:0032781 positive regulation of ATPase activity IDA 23569223
GO:0090435 protein localization to nuclear envelope IDA 19339278
genes like me logo Genes that share ontologies with TOR1AIP2: view

No data available for Pathways by source and SIGNOR curated interactions for TOR1AIP2 Gene

Drugs & Compounds for TOR1AIP2 Gene

No Compound Related Data Available

Transcripts for TOR1AIP2 Gene

Unigene Clusters for TOR1AIP2 Gene

Torsin A interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOR1AIP2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - - -
SP2: - - -
SP3: -
SP4:
SP5: - -

Relevant External Links for TOR1AIP2 Gene

GeneLoc Exon Structure for
TOR1AIP2
ECgene alternative splicing isoforms for
TOR1AIP2

Expression for TOR1AIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TOR1AIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOR1AIP2 Gene

This gene is overexpressed in Bone (13.4) and Breast (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOR1AIP2 Gene



Protein tissue co-expression partners for TOR1AIP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TOR1AIP2 Gene:

TOR1AIP2

SOURCE GeneReport for Unigene cluster for TOR1AIP2 Gene:

Hs.571797

Evidence on tissue expression from TISSUES for TOR1AIP2 Gene

  • Liver(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TOR1AIP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR1AIP2 Gene

Orthologs for TOR1AIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TOR1AIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOR1AIP2 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia TOR1AIP2 34 35
  • 84.23 (n)
cow
(Bos Taurus)
Mammalia TOR1AIP2 35 34
  • 83.98 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tor1aip2 34 16 35
  • 77.45 (n)
rat
(Rattus norvegicus)
Mammalia Tor1aip2 34
  • 76.65 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 57 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves TOR1AIP2 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR1AIP2 35
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-82a1.6 35
  • 24 (a)
ManyToMany
zgc:112962 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6390 35
  • 21 (a)
OneToMany
Species where no ortholog for TOR1AIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TOR1AIP2 Gene

ENSEMBL:
Gene Tree for TOR1AIP2 (if available)
TreeFam:
Gene Tree for TOR1AIP2 (if available)

Paralogs for TOR1AIP2 Gene

Paralogs for TOR1AIP2 Gene

(1) SIMAP similar genes for TOR1AIP2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for TOR1AIP2 Gene

genes like me logo Genes that share paralogs with TOR1AIP2: view

Variants for TOR1AIP2 Gene

Sequence variations from dbSNP and Humsavar for TOR1AIP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000055442 -- 179,861,835(+) AGAAT(C/T)TCCAA intron-variant, utr-variant-3-prime
rs1000060533 -- 179,874,355(+) TTTGC(A/G)GTAAG intron-variant
rs1000139219 -- 179,880,474(+) CCACT(A/T)TAAAG upstream-variant-2KB
rs1000338573 -- 179,859,949(+) CTCCC(A/C)CCTCA intron-variant, utr-variant-3-prime
rs1000363898 -- 179,840,579(+) GCAGA(G/T)TAGGG downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TOR1AIP2 Gene

Variant ID Type Subtype PubMed ID
dgv473n100 CNV gain 25217958
esv2568232 CNV deletion 19546169
nsv519273 CNV loss 19592680
nsv528201 CNV loss 19592680

Variation tolerance for TOR1AIP2 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOR1AIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR1AIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1AIP2 Gene

Disorders for TOR1AIP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TOR1AIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuromuscular disease
  • neuromuscular diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TOR1AIP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOR1AIP2
genes like me logo Genes that share disorders with TOR1AIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOR1AIP2 Gene

Publications for TOR1AIP2 Gene

  1. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PMID: 15767459) Goodchild R.E. … Dauer W.T. (J. Cell Biol. 2005) 2 3 4 64
  2. Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. (PMID: 27490483) Demircioglu F.E. … Schwartz T.U. (Elife 2016) 3 4 64
  3. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose A.E. … Schlieker C. (J. Biol. Chem. 2014) 3 4 64
  4. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C. … Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  5. LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. (PMID: 19339278) Vander Heyden A.B. … Hanson P.I. (Mol. Biol. Cell 2009) 3 4 64

Products for TOR1AIP2 Gene

Sources for TOR1AIP2 Gene

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