• Gene id: 11344

Gene Summary

• Gene Symbol: TWF2   Gene   UCSC   Ensembl
• Aliases: A6RP, A6r, MSTP011, PTK9L
• Gene name: twinfilin actin binding protein 2
• Alternate names: twinfilin-2, 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,
• Gene location: 3p21.2 (52239157: 52228611)     Exons: 9     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 613622

Protein Summary

• Protein general information: Q6IBS0  
  • Name: Twinfilin 2 (A6 related protein) (hA6RP) (Protein tyrosine kinase 9 like) (Twinfilin 1 like protein)
  • Length: 349  
  • Mass: 39548
  • Tissue specificity: Ubiquitously expressed (at protein level). {ECO
• Sequence:

  MAHQTGIHATEELKEFFAKARAGSVRLIKVVIEDEQLVLGASQEPVGRWDQDYDRAVLPLLDAQQPCYLLYRLDS
  QNAQGFEWLFLAWSPDNSPVRLKMLYAATRATVKKEFGGGHIKDELFGTVKDDLSFAGYQKHLSSCAAPAPLTSA
  ERELQQIRINEVKTEISVESKHQTLQGLAFPLQPEAQRALQQLKQKMVNYIQMKLDLERETIELVHTEPTDVAQL
  PSRVPRDAARYHFFLYKHTHEGDPLESVVFIYSMPGYKCSIKERMLYSSCKSRLLDSVEQDFHLEIAKKIEIGDG
  AELTAEFLYDEVHPKQHAFKQAFAKPKGPGGKRGHKRLIRGPGENGDDS

• Structural information:
  • Protein Domains: (4..13-)
    (/note="ADF-H-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00599-)
    (177..31-)
    (/note="ADF-H-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00599"-)
  • Interpro: IPR002108  IPR029006  IPR028458  
  • Prosite: PS51263
  • PDB: 2VAC 2W0I
  • PDBsum: 2VAC 2W0I
  • STRING: ENSP00000303908
• Other Databases: GeneCards:  TWF2  Malacards:  TWF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0042989	sequestering of actin monomers	IBA	biological process
GO:0010591	regulation of lamellipodium assembly	IBA	biological process
GO:0003785	actin monomer binding	IBA	molecular function
GO:0030042	actin filament depolymerization	IBA	biological process
GO:0030016	myofibril	IBA	cellular component
GO:0010976	positive regulation of neuron projection development	IBA	biological process
GO:0005884	actin filament	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003785	actin monomer binding	IEA	molecular function
GO:0030175	filopodium	IEA	cellular component
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0030027	lamellipodium	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0003785	actin monomer binding	ISS	molecular function
GO:0003785	actin monomer binding	ISS	molecular function
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0032532	regulation of microvillus length	IC	biological process
GO:0030426	growth cone	IDA	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030837	negative regulation of actin filament polymerization	ISS	biological process
GO:0042989	sequestering of actin monomers	ISS	biological process
GO:0045773	positive regulation of axon extension	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0051016	barbed-end actin filament capping	ISS	biological process
GO:0071363	cellular response to growth factor stimulus	IMP	biological process
GO:0010592	positive regulation of lamellipodium assembly	IMP	biological process
GO:0010976	positive regulation of neuron projection development	IMP	biological process
GO:0030016	myofibril	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0032420	stereocilium	ISS	cellular component
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0071300	cellular response to retinoic acid	IMP	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005737	cytoplasm	NAS	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq