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

Gene ID: 11344, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52228612..52239158, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52261498..52272045, complement)
105.20220307 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. 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
  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. Cloning, expression and characterization of an A6-related protein. Rohwer A, et al. Eur J Biochem, 1999 Jul. PMID 10406962

See all (57) 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)

Genotypes

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_2023_10

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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