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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
  • GC01M180516
  • GC01M180604

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 Dystonia and Neuromuscular Disease. Gene Ontology (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.

Additional gene information for TOR1AIP2 Gene

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

GeneHancer (GH) Regulatory Elements for TOR1AIP2 Gene

Promoters and enhancers for TOR1AIP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I179875 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.2 +0.8 810 3 HDGF FOXA2 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 TOR1AIP2 ENSG00000261831 PIR31353
GH01I179865 Promoter 0.5 EPDnew 550.4 +12.3 12317 0.1 TOR1AIP2 PIR31353
GH01I180116 Enhancer 1.4 Ensembl ENCODE dbSUPER 10 -239.8 -239774 2.1 FOXA2 MLX ARNT ARID4B FOS SP5 MXD4 KAT8 MIER3 SMARCA4 QSOX1 ACBD6 TOR1AIP1 TOR1AIP2 ENSG00000261831 ENSG00000261817 RPS24P5
GH01I179880 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 4.4 -5.0 -5016 4.7 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A ENSG00000272906 TOR1AIP1 LHX4 TOR3A ACBD6 CEP350 ENSG00000261831 TOR1AIP2 FAM163A AXDND1
GH01I179930 Enhancer 0.9 ENCODE 10.6 -53.3 -53275 0.2 FEZF1 BRCA1 FOS DEK SP3 TSHZ1 ZNF518A MAFF STAT3 SP7 TOR1AIP1 TOR1AIP2 GC01P179922 ENSG00000261831 LOC101928933
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TOR1AIP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TOR1AIP2 gene promoter:

Genomic Locations for TOR1AIP2 Gene

Genomic Locations for TOR1AIP2 Gene
chr1:179,839,967-179,877,806
(GRCh38/hg38)
Size:
37,840 bases
Orientation:
Minus strand
chr1:179,809,102-179,846,941
(GRCh37/hg19)

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

  • Ubiquitination at posLast=195195 and posLast=442442
  • Glycosylation at isoforms=286

No data available for DME Specific Peptides for TOR1AIP2 Gene

Domains & Families for TOR1AIP2 Gene

Gene Families for TOR1AIP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOR1AIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 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

Clone 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 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia TOR1AIP2 33 34
  • 84.23 (n)
cow
(Bos Taurus)
Mammalia TOR1AIP2 33 34
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Tor1aip2 33 16 34
  • 77.45 (n)
rat
(Rattus norvegicus)
Mammalia Tor1aip2 33
  • 76.65 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves TOR1AIP2 34
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR1AIP2 34
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-82a1.6 34
  • 24 (a)
ManyToMany
zgc:112962 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6390 34
  • 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 Variation AA Info Type
rs1000055442 -- 179,861,835(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000060533 -- 179,874,355(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000139219 -- 179,880,474(-) T/A upstream_transcript_variant
rs1000338573 -- 179,859,949(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000363898 -- 179,840,579(-) T/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

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)

Additional Variant Information 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

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

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

Additional Disease Information for 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 RE … Dauer WT (The Journal of cell biology 2005) 2 3 4 58
  2. Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. (PMID: 27490483) Demircioglu FE … Schwartz TU (eLife 2016) 3 4 58
  3. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4 58
  4. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C … Schlieker C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  5. Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. (PMID: 19651773) Naismith TV … Hanson PI (The Journal of biological chemistry 2009) 3 22 58

Products for TOR1AIP2 Gene

Sources for TOR1AIP2 Gene

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