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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
  • Twinfilin Actin-Binding Protein 2 3
  • Protein Tyrosine Kinase 9-Like 4
  • 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TWF2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TWF2 Gene at MOPED

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 :
  • Contains 2 ADF-H domains.
  • Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
Domain:
  • Contains 2 ADF-H domains.
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: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

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
Jensen Localization Image for TWF2 Gene COMPARTMENTS Subcellular localization image for TWF2 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 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 10406962
GO:0030027 lamellipodium IEA,ISS 12807912
genes like me logo Genes that share ontologies with TWF2: view

Pathways & Interactions for TWF2 Gene

SuperPathways for TWF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TWF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010976 positive regulation of neuron projection development IMP 17910947
GO:0030837 negative regulation of actin filament polymerization IEA,ISS 12807912
GO:0045773 positive regulation of axon extension IMP 17910947
GO:0051016 barbed-end actin filament capping IEA,ISS 18837697
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

Drugs & Compounds for TWF2 Gene

No Compound Related Data Available

Transcripts for TWF2 Gene

mRNA/cDNA for TWF2 Gene

Unigene Clusters for TWF2 Gene

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

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 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, MOPED, and MaxQB for TWF2 Gene



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).
genes like me logo Genes that share expression patterns with TWF2: view

Protein tissue co-expression partners for TWF2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia TWF2 35
  • 90.45 (n)
  • 95.13 (a)
mouse
(Mus musculus)
Mammalia Twf2 35
  • 87.97 (n)
  • 96.56 (a)
Twf2 16
Twf2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TWF2 35
  • 99.24 (n)
  • 99.71 (a)
TWF2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Twf2 35
  • 88.92 (n)
  • 96.85 (a)
dog
(Canis familiaris)
Mammalia TWF2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TWF2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TWF2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWF2 35
  • 79.37 (n)
  • 83.95 (a)
TWF2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TWF2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15977 35
twf2 35
  • 71.16 (n)
  • 79.37 (a)
African clawed frog
(Xenopus laevis)
Amphibia ptk9l-prov 35
zebrafish
(Danio rerio)
Actinopterygii twf2 35
  • 69.31 (n)
  • 73.31 (a)
twf2b 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta twf 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F38E9.5 36
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TWF1 36
  • 25 (a)
OneToMany
TWF1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9828 36
  • 44 (a)
OneToMany
Species with no ortholog for TWF2:
  • 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
rs35114109 - 52,232,012(+) GAGGC(A/G)GTAGA reference, missense
rs35711542 - 52,231,999(+) CATTC(C/T)GTGAG reference, missense
VAR_042409 A lung neuroendocrine carcinoma sample
rs164636 -- 52,231,243(-) CACCC(C/G)CACCC intron-variant
rs164637 -- 52,231,199(-) AAACA(C/T)CTGTC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv519445 CNV Gain+Loss 19592680
nsv470572 CNV Loss 18288195
nsv460537 CNV Loss 19166990
nsv508218 CNV Loss 20534489
nsv508926 CNV Insertion 20534489
nsv834694 CNV Gain 17160897
nsv834695 CNV Loss 17160897
dgv5136n71 CNV Gain 21882294
nsv876789 CNV Loss 21882294
nsv876790 CNV Loss 21882294
nsv876791 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 23 67
  2. Mammals have two twinfilin isoforms whose subcellular localizations and tissue distributions are differentially regulated. (PMID: 12807912) Vartiainen M.K. … Lappalainen P. (J. Biol. Chem. 2003) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for TWF2 Gene

Sources for TWF2 Gene

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