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Aliases for TOR4A Gene

Aliases for TOR4A Gene

  • Torsin Family 4 Member A 2 3 4 5
  • C9orf167 3 4
  • Chromosome 9 Open Reading Frame 167 2
  • Torsin Family Protein C9orf167 3
  • Torsin Family 4, Member A 2
  • Torsin-4A 3

External Ids for TOR4A Gene

Previous HGNC Symbols for TOR4A Gene

  • C9orf167

Previous GeneCards Identifiers for TOR4A Gene

  • GC09P140173

Summaries for TOR4A Gene

GeneCards Summary for TOR4A Gene

TOR4A (Torsin Family 4 Member A) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is TOR3A.

Additional gene information for TOR4A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR4A Gene

Genomics for TOR4A Gene

Regulatory Elements for TOR4A Gene

Enhancers for TOR4A 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
GH09H137287 1.2 Ensembl ENCODE 11.8 +9.5 9452 0 HDAC1 RB1 ARID4B KLF17 SIN3A DMAP1 ZNF2 RAD21 EGR1 ZNF143 TOR4A ENSG00000270259 ENSG00000260996
GH09H137233 1.8 FANTOM5 ENCODE dbSUPER 6.3 -39.4 -39444 9 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZC3H11A ZFP41 EHMT1 SDCCAG3 NDOR1 ANAPC2 LOC651337 INPP5E DPH7 MAN1B1 SEC16A IL9RP1
GH09H137450 1 Ensembl ENCODE 4.6 +173.5 173548 2 YBX3 LEF1 MAX HIC1 ZFHX2 GLIS2 EGR1 POLR2A ZNF366 ZNF600 NOXA1 TOR4A MIR7114 NSMF
GH09H137399 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +122.4 122410 1 ZNF766 SREBF2 HNF4G HNF4A PRDM10 SPI1 SEC16A NRARP UAP1L1 TOR4A EXD3 GC09M137332
GH09H137282 0.5 ENCODE 4.9 +5.2 5224 1 STAT1 POLR2A MLLT1 SPI1 EXD3 NOXA1 TOR4A GC09P137287
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOR4A on UCSC Golden Path with GeneCards custom track

Promoters for TOR4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243175 451 1201 ATF1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ELK1 ZNF143 ZNF207 ATF7

Genomic Location for TOR4A Gene

Chromosome:
9
Start:
137,277,749 bp from pter
End:
137,282,641 bp from pter
Size:
4,893 bases
Orientation:
Plus strand

Genomic View for TOR4A Gene

Genes around TOR4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR4A Gene

Proteins for TOR4A Gene

  • Protein details for TOR4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXH8-TOR4A_HUMAN
    Recommended name:
    Torsin-4A
    Protein Accession:
    Q9NXH8
    Secondary Accessions:
    • A2BFA4

    Protein attributes for TOR4A Gene

    Size:
    423 amino acids
    Molecular mass:
    46914 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TOR4A Gene

Post-translational modifications for TOR4A Gene

  • Ubiquitination at Lys75
  • Modification sites at PhosphoSitePlus

Other Protein References for TOR4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOR4A Gene

Domains & Families for TOR4A Gene

Gene Families for TOR4A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TOR4A Gene

Suggested Antigen Peptide Sequences for TOR4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXH8

UniProtKB/Swiss-Prot:

TOR4A_HUMAN :
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
Family:
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
genes like me logo Genes that share domains with TOR4A: view

Function for TOR4A Gene

Gene Ontology (GO) - Molecular Function for TOR4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TOR4A: view
genes like me logo Genes that share phenotypes with TOR4A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOR4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR4A Gene

Localization for TOR4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR4A Gene

Membrane; Single-pass membrane protein.

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 TOR4A gene
Compartment Confidence
extracellular 5
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TOR4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with TOR4A: view

Pathways & Interactions for TOR4A Gene

genes like me logo Genes that share pathways with TOR4A: view

Interacting Proteins for TOR4A Gene

Gene Ontology (GO) - Biological Process for TOR4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
genes like me logo Genes that share ontologies with TOR4A: view

No data available for SIGNOR curated interactions for TOR4A Gene

Drugs & Compounds for TOR4A Gene

No Compound Related Data Available

Transcripts for TOR4A Gene

mRNA/cDNA for TOR4A Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TOR4A Gene

Torsin family 4, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOR4A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TOR4A Gene

No ASD Table

Relevant External Links for TOR4A Gene

GeneLoc Exon Structure for
TOR4A
ECgene alternative splicing isoforms for
TOR4A

Expression for TOR4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TOR4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TOR4A Gene

This gene is overexpressed in Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for TOR4A Gene

This gene is overexpressed in Nasal epithelium (33.2), Peripheral blood mononuclear cells (17.9), and Platelet (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TOR4A Gene



Protein tissue co-expression partners for TOR4A Gene

NURSA nuclear receptor signaling pathways regulating expression of TOR4A Gene:

TOR4A

SOURCE GeneReport for Unigene cluster for TOR4A Gene:

Hs.495541

Evidence on tissue expression from TISSUES for TOR4A Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with TOR4A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR4A Gene

Orthologs for TOR4A Gene

This gene was present in the common ancestor of animals.

Orthologs for TOR4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOR4A 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia TOR4A 33 34
  • 84.32 (n)
cow
(Bos Taurus)
Mammalia TOR4A 33 34
  • 82.76 (n)
rat
(Rattus norvegicus)
Mammalia Tor4a 33
  • 76 (n)
mouse
(Mus musculus)
Mammalia Tor4a 33 16 34
  • 74.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TOR4A 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR4A 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF167 33
  • 61.13 (n)
TOR4A 34
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR4A 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tor4a 33
  • 59.03 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101886311 33
  • 54.86 (n)
TOR4A (1 of 4) 34
  • 43 (a)
OneToMany
TOR4A (2 of 4) 34
  • 43 (a)
OneToMany
TOR4A (3 of 4) 34
  • 43 (a)
OneToMany
TOR4A (4 of 4) 34
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Torsin 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ooc-5 34
  • 20 (a)
ManyToMany
tor-1 34
  • 20 (a)
ManyToMany
tor-2 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 34
  • 17 (a)
OneToMany
Species where no ortholog for TOR4A 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TOR4A Gene

ENSEMBL:
Gene Tree for TOR4A (if available)
TreeFam:
Gene Tree for TOR4A (if available)

Paralogs for TOR4A Gene

Paralogs for TOR4A Gene

genes like me logo Genes that share paralogs with TOR4A: view

Variants for TOR4A Gene

Sequence variations from dbSNP and Humsavar for TOR4A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000122647 -- 137,277,492(+) GGGGG(C/G)ACAGC upstream-variant-2KB
rs1000534987 -- 137,278,140(+) CAAAA(C/T)CATAA intron-variant
rs1000685727 -- 137,281,177(+) AGGGG(C/T)GGCGA utr-variant-3-prime
rs1001155380 -- 137,276,110(+) GGAGG(C/T)GGGAG upstream-variant-2KB
rs1001369961 -- 137,281,002(+) CACCC(A/G)GCAGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TOR4A Gene

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13011n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
esv3573429 CNV loss 25503493
nsv1037407 CNV gain 25217958
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv825185 CNV gain 20364138
nsv951207 CNV deletion 24416366

Variation tolerance for TOR4A Gene

Gene Damage Index Score: 2.96; 49.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOR4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR4A Gene

Disorders for TOR4A Gene

Relevant External Links for TOR4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOR4A

No disorders were found for TOR4A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TOR4A Gene

Publications for TOR4A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 60
  3. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PMID: 23956138) Foerster S … Ritter CA (Proteomics 2013) 3 60
  4. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PMID: 22952844) Wu Z … Ma L (PloS one 2012) 3 60
  5. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4 60

Products for TOR4A Gene

Sources for TOR4A Gene

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