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

    Gene ID: 11344, updated on 10-Dec-2024

    Summary

    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
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (19 hits/1267 screens)

    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

    Interactions

    General gene information

    Potential readthrough

    Included gene: TLR9

    Clone Names

    • FLJ56277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding PubMed 
    enables RNA binding PubMed 
    enables actin filament binding  
    enables actin monomer binding  
    enables actin monomer binding PubMed 
    enables cadherin binding PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding PubMed 
    enables protein binding PubMed 
    enables protein kinase C binding PubMed 
    Process Evidence Code Pubs
    involved_in actin filament depolymerization  
    involved_in barbed-end actin filament capping  
    involved_in barbed-end actin filament capping PubMed 
    involved_in cell projection organization  
    involved_in cellular response to growth factor stimulus PubMed 
    involved_in cellular response to retinoic acid PubMed 
    involved_in negative regulation of actin filament polymerization PubMed 
    involved_in positive regulation of axon extension PubMed 
    involved_in positive regulation of lamellipodium assembly PubMed 
    involved_in positive regulation of neuron projection development  
    involved_in positive regulation of neuron projection development PubMed 
    involved_in regulation of actin cytoskeleton organization PubMed 
    involved_in regulation of lamellipodium assembly  
    involved_in regulation of microvillus length PubMed 
    involved_in sequestering of actin monomers  
    involved_in sequestering of actin monomers PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in extracellular exosome PubMed 
    located_in filopodium PubMed 
    located_in growth cone PubMed 
    located_in lamellipodium PubMed 
    is_active_in myofibril  
    located_in myofibril PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in stereocilium PubMed 

    General protein information

    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)
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