Gene Gene information from NCBI Gene database.
Entrez ID 5756
Gene name Twinfilin actin binding protein 1
Gene symbol TWF1
Synonyms (NCBI Gene)
A6PTK9
Chromosome 12
Chromosome location 12q12
Summary This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may
miRNA miRNA information provided by mirtarbase database.
752
miRTarBase ID miRNA Experiments Reference
MIRT005164 hsa-miR-30a-5p pSILAC 18668040
MIRT005246 hsa-miR-155-5p pSILAC 18668040
MIRT005089 hsa-miR-1-3p pSILAC 18668040
MIRT005089 hsa-miR-1-3p Microarray 15685193
MIRT005089 hsa-miR-1-3p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 20571053
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 28493397
GO:0003779 Function Actin binding IEA
GO:0003785 Function Actin monomer binding IBA
GO:0003785 Function Actin monomer binding IEA
GO:0003785 Function Actin monomer binding ISS 12807912, 18837697
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610932 9620 ENSG00000151239
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12792
Protein name Twinfilin-1 (Protein A6) (Protein tyrosine kinase 9)
Protein 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
PDB 7CCC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00241 Cofilin_ADF 9 136 Cofilin/tropomyosin-type actin-binding protein Domain
PF00241 Cofilin_ADF 184 311 Cofilin/tropomyosin-type actin-binding protein Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the colon, testis, ovary, prostate and lung. Expressed at lower levels in the brain, bladder and heart. Not detected in liver. {ECO:0000269|PubMed:7507208}.
Sequence
Sequence length 350
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Bone Diseases Associate 17900349
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 34519634, 40362400
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 19422682
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 37150240
★☆☆☆☆
Found in Text Mining only
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 26662397
★☆☆☆☆
Found in Text Mining only
Mohr Tranebjaerg syndrome Associate 34519634
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 17900349
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 31619579
★☆☆☆☆
Found in Text Mining only
Rhinitis Allergic Associate 21738793
★☆☆☆☆
Found in Text Mining only