Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TWF2 Gene

Aliases for TWF2 Gene

  • Twinfilin Actin Binding Protein 2 2 3 5
  • PTK9L Protein Tyrosine Kinase 9-Like (A6-Related Protein) 2 3
  • Protein Tyrosine Kinase 9-Like (A6-Related Protein) 2 3
  • Twinfilin-1-Like Protein 3 4
  • A6-Related Protein 3 4
  • PTK9L 3 4
  • Twinfilin, Actin-Binding Protein, Homolog 2 (Drosophila) 2
  • Twinfilin, Actin-Binding Protein, Homolog 2 3
  • Protein Tyrosine Kinase 9-Like 4
  • Twinfilin-2 3
  • MSTP011 3
  • HA6RP 4
  • A6RP 3
  • A6r 3

External Ids for TWF2 Gene

Previous HGNC Symbols for TWF2 Gene

  • PTK9L

Previous GeneCards Identifiers for TWF2 Gene

  • GC03M052233
  • GC03M052262

Summaries for TWF2 Gene

Entrez Gene Summary for TWF2 Gene

  • The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for TWF2 Gene

TWF2 (Twinfilin Actin Binding Protein 2) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and protein kinase C binding. An important paralog of this gene is TWF1.

UniProtKB/Swiss-Prot for TWF2 Gene

  • Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity).

Gene Wiki entry for TWF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TWF2 Gene

Genomics for TWF2 Gene

Regulatory Elements for TWF2 Gene

Enhancers for TWF2 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
GH03G052274 1.7 Ensembl ENCODE dbSUPER 23.6 -43.6 -43595 17.3 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 SSRP1 LOC101929054 PPM1M TWF2 ITIH4 PBRM1 GLYCTK RRP9 RFT1 RAD54L2 ENSG00000173366
GH03G052210 1.6 Ensembl ENCODE dbSUPER 13.1 +28.2 28165 2.1 HDGF FOXA2 PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ENSG00000173366 LOC101929054 TWF2 PPM1M WDR82 MIR135A1 GLYCTK-AS1 GLYCTK POC1A DUSP7
GH03G052339 1.2 Ensembl ENCODE 11.6 -100.5 -100541 0.4 HDGF FOXA2 ARNT NFRKB ZSCAN4 ARID4B FEZF1 DMAP1 YBX1 ZNF2 DNAH1 GLYCTK-AS1 MIR135A1 WDR82 GLYCTK LOC101929054 TWF2 ENSG00000173366 TLR9 PPM1M
GH03G052202 1.1 ENCODE dbSUPER 12.4 +36.7 36676 2.3 HDGF PKNOX1 SREBF2 SIN3A THRB YY1 RARA GLIS2 FOS IKZF2 TLR9 ENSG00000173366 LOC101929054 TWF2 GLYCTK WDR82 MIR135A1 GLYCTK-AS1 NT5DC2 DUSP7
GH03G052205 1 dbSUPER 13 +34.0 34005 0.3 HDGF ATF1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 TLR9 ENSG00000173366 TWF2 LOC101929054 WDR82 PPM1M GLYCTK MIR135A1 GLYCTK-AS1 DUSP7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TWF2 on UCSC Golden Path with GeneCards custom track

Promoters for TWF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152518 -33 1201 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for TWF2 Gene

Chromosome:
3
Start:
52,228,610 bp from pter
End:
52,239,260 bp from pter
Size:
10,651 bases
Orientation:
Minus strand

Genomic View for TWF2 Gene

Genes around TWF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TWF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TWF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TWF2 Gene

Proteins for TWF2 Gene

  • Protein details for TWF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IBS0-TWF2_HUMAN
    Recommended name:
    Twinfilin-2
    Protein Accession:
    Q6IBS0
    Secondary Accessions:
    • Q9Y3F5

    Protein attributes for TWF2 Gene

    Size:
    349 amino acids
    Molecular mass:
    39548 Da
    Quaternary structure:
    • Interacts with G-actin; ADP-actin form and capping protein (CP). May also be able to interact with TWF1 and phosphoinositides, PI(4,5)P2. When bound to PI(4,5)P2, it is down-regulated. Interacts with MYO7A (By similarity).

    Three dimensional structures from OCA and Proteopedia for TWF2 Gene

neXtProt entry for TWF2 Gene

Post-translational modifications for TWF2 Gene

Other Protein References for TWF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TWF2 Gene

Domains & Families for TWF2 Gene

Gene Families for TWF2 Gene

Protein Domains for TWF2 Gene

Suggested Antigen Peptide Sequences for TWF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IBS0

UniProtKB/Swiss-Prot:

TWF2_HUMAN :
  • Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
Family:
  • Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
genes like me logo Genes that share domains with TWF2: view

Function for TWF2 Gene

Molecular function for TWF2 Gene

UniProtKB/Swiss-Prot Function:
Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity).

Gene Ontology (GO) - Molecular Function for TWF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003779 actin binding IEA --
GO:0003785 actin monomer binding ISS 12807912
GO:0005080 protein kinase C binding IPI 10406962
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with TWF2: view
genes like me logo Genes that share phenotypes with TWF2: view

Animal Model Products

miRNA for TWF2 Gene

miRTarBase miRNAs that target TWF2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TWF2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TWF2 Gene

Localization for TWF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWF2 Gene

Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell projection, stereocilium. Note=Perinuclear and G-actin-rich cortical actin structure sublocalization.

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 TWF2 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TWF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm NAS,IDA 10406962
GO:0005856 cytoskeleton IEA --
GO:0030016 myofibril ISS 18837697
GO:0030027 lamellipodium ISS 12807912
genes like me logo Genes that share ontologies with TWF2: view

Pathways & Interactions for TWF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TWF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010592 positive regulation of lamellipodium assembly IMP 17910947
GO:0010976 positive regulation of neuron projection development IMP 17910947
GO:0030030 cell projection organization IEA --
GO:0030837 negative regulation of actin filament polymerization ISS,IEA 12807912
GO:0032532 regulation of microvillus length IC 19955359
genes like me logo Genes that share ontologies with TWF2: view

No data available for Pathways by source and SIGNOR curated interactions for TWF2 Gene

Transcripts for TWF2 Gene

mRNA/cDNA for TWF2 Gene

Unigene Clusters for TWF2 Gene

Twinfilin, actin-binding protein, homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TWF2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TWF2 Gene

No ASD Table

Relevant External Links for TWF2 Gene

GeneLoc Exon Structure for
TWF2
ECgene alternative splicing isoforms for
TWF2

Expression for TWF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TWF2 Gene

mRNA differential expression in normal tissues according to GTEx for TWF2 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for TWF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TWF2 Gene



Protein tissue co-expression partners for TWF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TWF2 Gene:

TWF2

SOURCE GeneReport for Unigene cluster for TWF2 Gene:

Hs.436439

mRNA Expression by UniProt/SwissProt for TWF2 Gene:

Q6IBS0-TWF2_HUMAN
Tissue specificity: Ubiquitously expressed (at protein level).

Evidence on tissue expression from TISSUES for TWF2 Gene

  • Lung(4.5)
  • Skin(4.5)
  • Kidney(4.2)
  • Nervous system(3.8)
  • Muscle(2.9)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with TWF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for TWF2 Gene

Orthologs for TWF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TWF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TWF2 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia TWF2 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TWF2 34
  • 90.45 (n)
rat
(Rattus norvegicus)
Mammalia Twf2 34
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Twf2 34 16 35
  • 87.97 (n)
oppossum
(Monodelphis domestica)
Mammalia TWF2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TWF2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWF2 34 35
  • 79.37 (n)
lizard
(Anolis carolinensis)
Reptilia TWF2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia twf2 34
  • 71.16 (n)
Str.15977 34
African clawed frog
(Xenopus laevis)
Amphibia ptk9l-prov 34
zebrafish
(Danio rerio)
Actinopterygii twf2 34
  • 69.31 (n)
twf2b 35
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta twf 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F38E9.5 35
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TWF1 35 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9828 35
  • 44 (a)
OneToMany
Species where no ortholog for TWF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 TWF2 Gene

ENSEMBL:
Gene Tree for TWF2 (if available)
TreeFam:
Gene Tree for TWF2 (if available)

Paralogs for TWF2 Gene

Paralogs for TWF2 Gene

(1) SIMAP similar genes for TWF2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TWF2: view

Variants for TWF2 Gene

Sequence variations from dbSNP and Humsavar for TWF2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs867679383 A lung neuroendocrine carcinoma sample 52,231,515(+) CGTGG(C/T)CGCGT reference, missense
rs1000068381 -- 52,235,402(+) GCCAC(A/G)GTGAA intron-variant
rs1000390993 -- 52,232,251(+) GAGCC(A/C)CCAGG intron-variant
rs1001114664 -- 52,235,084(+) GCAAA(G/T)AATTC reference, missense
rs1001221291 -- 52,229,407(+) CTGCT(C/T)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TWF2 Gene

Variant ID Type Subtype PubMed ID
nsv460537 CNV loss 19166990
nsv470572 CNV loss 18288195
nsv508218 CNV deletion 20534489
nsv508926 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv590301 CNV loss 21841781
nsv834694 CNV gain 17160897
nsv834695 CNV loss 17160897
nsv954858 CNV deletion 24416366

Variation tolerance for TWF2 Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 24.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TWF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TWF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TWF2 Gene

Disorders for TWF2 Gene

Relevant External Links for TWF2

Genetic Association Database (GAD)
TWF2
Human Genome Epidemiology (HuGE) Navigator
TWF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TWF2

No disorders were found for TWF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TWF2 Gene

Publications for TWF2 Gene

  1. Cloning, expression and characterization of an A6 related protein. (PMID: 10406962) Rohwer A. … Gschwendt M. (Eur. J. Biochem. 1999) 2 3 4 22 64
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64

Products for TWF2 Gene

Sources for TWF2 Gene

Content
Loading form....