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    TWF2 twinfilin actin binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 11344, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TWF2provided by HGNC
    Official Full Name
    twinfilin actin binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:9621
    See related
    Ensembl:ENSG00000247596 MIM:607433; AllianceGenome:HGNC:9621
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A6r; A6RP; PTK9L; MSTP011
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 28.1), heart (RPKM 27.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TWF2 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52228612..52239158, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52261498..52272045, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52262628..52273174, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14432 Neighboring gene 5'-aminolevulinate synthase 1 Neighboring gene Sharpr-MPRA regulatory region 10522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52259793-52260294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52260295-52260794 Neighboring gene toll like receptor 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52270765-52271306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52271307-52271849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19933 Neighboring gene NANOG hESC enhancer GRCh37_chr3:52274848-52275376 Neighboring gene TWF2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14436 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1M

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cross-Platform Synaptic Network Analysis of Human Entorhinal Cortex Identifies TWF2 as a Modulator of Dendritic Spine Length. Walker CK, et al. J Neurosci, 2023 May 17. PMID 37055180, Free PMC Article
    2. Twinfilin 2 regulates actin filament lengths in cochlear stereocilia. Peng AW, et al. J Neurosci, 2009 Dec 2. PMID 19955359, Free PMC Article
    3. Cloning, expression and characterization of an A6-related protein. Rohwer A, et al. Eur J Biochem, 1999 Jul. PMID 10406962
    4. Mammals have two twinfilin isoforms whose subcellular localizations and tissue distributions are differentially regulated. Vartiainen MK, et al. J Biol Chem, 2003 Sep 5. PMID 12807912
    5. Two biochemically distinct and tissue-specific twinfilin isoforms are generated from the mouse Twf2 gene by alternative promoter usage. Nevalainen EM, et al. Biochem J, 2009 Jan 15. PMID 18837697

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cross-Platform Synaptic Network Analysis of Human Entorhinal Cortex Identifies TWF2 as a Modulator of Dendritic Spine Length.
      Title: Cross-Platform Synaptic Network Analysis of Human Entorhinal Cortex Identifies TWF2 as a Modulator of Dendritic Spine Length.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    5. twinfilin-2 is a protein that is involved in neurite outgrowth
      Title: Identification of twinfilin-2 as a factor involved in neurite outgrowth by RNAi-based screen.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TLR9

    Homology

    Clone Names

    • FLJ56277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin monomer binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin monomer binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in barbed-end actin filament capping ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microvillus length IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in sequestering of actin monomers IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sequestering of actin monomers ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    twinfilin-2
    Names
    A6-related protein
    PTK9L protein tyrosine kinase 9-like (A6-related protein)
    protein tyrosine kinase 9-like (A6-related protein)
    twinfilin, actin-binding protein, homolog 2
    twinfilin-1-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_007284.4 → NP_009215.1  twinfilin-2

      See identical proteins and their annotated locations for NP_009215.1

      Status: REVIEWED

      Source sequence(s)
      AL136773, BC003161, BI551353
      Consensus CDS
      CCDS2849.1
      UniProtKB/Swiss-Prot
      Q6IBS0, Q9Y3F5
      UniProtKB/TrEMBL
      A0A7I2V2U8
      Related
      ENSP00000303908.4, ENST00000305533.10
      Conserved Domains (2) summary
      cd11284
      Location:176 → 311
      ADF_Twf-C_like; C-terminal ADF domain of twinfilin and related proteins
      cd11285
      Location:4 → 142
      ADF_Twf-N_like; N-terminal ADF domain of twinfilin and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52228612..52239158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52261498..52272045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IBS0.2 GenPept UniProtKB/Swiss-Prot:Q6IBS0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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