TWF2
gene geneOn this page
Also known as A6RPA6r
Summary
TWF2 (twinfilin actin binding protein 2, HGNC:9621) is a protein-coding gene on chromosome 3p21.2, encoding Twinfilin-2 (Q6IBS0). Actin-binding protein involved in motile and morphological processes.
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.
Source: NCBI Gene 11344 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 48 total
- Druggable target: yes
- MANE Select transcript:
NM_007284
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9621 |
| Approved symbol | TWF2 |
| Name | twinfilin actin binding protein 2 |
| Location | 3p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | A6RP, A6r |
| Ensembl gene | ENSG00000247596 |
| Ensembl biotype | protein_coding |
| OMIM | 607433 |
| Entrez | 11344 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 12 protein_coding, 9 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000305533, ENST00000472755, ENST00000499914, ENST00000676552, ENST00000676800, ENST00000676988, ENST00000676989, ENST00000677058, ENST00000677127, ENST00000678330, ENST00000678352, ENST00000678549, ENST00000678681, ENST00000678700, ENST00000678838, ENST00000678882, ENST00000679180, ENST00000679296, ENST00000863526, ENST00000863527, ENST00000863528, ENST00000913256, ENST00000913257, ENST00000970732, ENST00000970733
RefSeq mRNA: 1 — MANE Select: NM_007284
NM_007284
CCDS: CCDS2849
Canonical transcript exons
ENST00000305533 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001125151 | 52228612 | 52229201 |
| ENSE00001931654 | 52238992 | 52239158 |
| ENSE00003459274 | 52229661 | 52229782 |
| ENSE00003462404 | 52231444 | 52231539 |
| ENSE00003490280 | 52231127 | 52231231 |
| ENSE00003506265 | 52235029 | 52235106 |
| ENSE00003579514 | 52230870 | 52230995 |
| ENSE00003615482 | 52229920 | 52230070 |
| ENSE00003654688 | 52231944 | 52232122 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 97.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.5881 / max 269.4716, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42411 | 53.3370 | 1821 |
| 42409 | 0.2398 | 48 |
| 42410 | 0.0112 | 8 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 97.98 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.84 | gold quality |
| granulocyte | CL:0000094 | 97.36 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.26 | gold quality |
| monocyte | CL:0000576 | 96.90 | gold quality |
| muscle of leg | UBERON:0001383 | 96.56 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.49 | gold quality |
| leukocyte | CL:0000738 | 96.43 | gold quality |
| mononuclear cell | CL:0000842 | 96.42 | gold quality |
| muscle organ | UBERON:0001630 | 95.10 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.10 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.90 | gold quality |
| triceps brachii | UBERON:0001509 | 94.79 | gold quality |
| blood | UBERON:0000178 | 93.78 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.77 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.59 | gold quality |
| body of tongue | UBERON:0011876 | 93.16 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.10 | gold quality |
| heart | UBERON:0000948 | 92.68 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.66 | gold quality |
| lymph node | UBERON:0000029 | 92.65 | gold quality |
| spleen | UBERON:0002106 | 92.59 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.55 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.54 | gold quality |
| right coronary artery | UBERON:0001625 | 92.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.33 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.06 | gold quality |
| ascending aorta | UBERON:0001496 | 92.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting TWF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-7108-5P | 96.42 | 66.17 | 598 |
Literature-anchored findings (GeneRIF, showing 2)
- twinfilin-2 is a protein that is involved in neurite outgrowth (PMID:17910947)
- Cross-Platform Synaptic Network Analysis of Human Entorhinal Cortex Identifies TWF2 as a Modulator of Dendritic Spine Length. (PMID:37055180)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | twf2b | ENSDARG00000009727 |
| danio_rerio | twf2a | ENSDARG00000094792 |
| mus_musculus | Twf2 | ENSMUSG00000023277 |
| rattus_norvegicus | Twf2 | ENSRNOG00000048915 |
| drosophila_melanogaster | twf | FBGN0038206 |
| caenorhabditis_elegans | WBGENE00018187 |
Paralogs (1): TWF1 (ENSG00000151239)
Protein
Protein identifiers
Twinfilin-2 — Q6IBS0 (reviewed: Q6IBS0)
Alternative names: A6-related protein, Protein tyrosine kinase 9-like, Twinfilin-1-like protein
All UniProt accessions (7): A0A7I2V2U8, A0A7I2V3T5, A0A7I2V5B1, A0A7I2V5D3, A0A7I2YQM6, D6RG15, Q6IBS0
UniProt curated annotations — full annotation on UniProt →
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-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia.
Subunit / interactions. Interacts with G-actin; ADP-actin form and capping protein (CP). May also be able to interact with TWF1 and phosphoinositides, PI(4,5)P2. When bound to PI(4,5)P2, it is down-regulated. Interacts with MYO7A.
Subcellular location. Cytoplasm. Cytoskeleton. Perinuclear region. Cell projection. Stereocilium.
Tissue specificity. Ubiquitously expressed (at protein level).
Post-translational modifications. In vitro, phosphorylated by PRKCZ, CK2 and SRC.
Similarity. Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
RefSeq proteins (1): NP_009215* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002108 | ADF-H | Domain |
| IPR028458 | Twinfilin | Family |
| IPR029006 | ADF-H/Gelsolin-like_dom_sf | Homologous_superfamily |
Pfam: PF00241
UniProt features (39 total): helix 13, strand 11, modified residue 4, sequence variant 3, domain 2, initiator methionine 1, chain 1, sequence conflict 1, turn 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2VAC | X-RAY DIFFRACTION | 1.7 |
| 2W0I | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IBS0-F1 | 91.41 | 0.81 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 2, 14, 309, 349
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9662360 | Sensory processing of sound by inner hair cells of the cochlea |
| R-HSA-9662361 | Sensory processing of sound by outer hair cells of the cochlea |
MSigDB gene sets: 284 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_BARBED_END_ACTIN_FILAMENT_CAPPING, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT
GO Biological Process (12): regulation of lamellipodium assembly (GO:0010591), positive regulation of lamellipodium assembly (GO:0010592), positive regulation of neuron projection development (GO:0010976), cell projection organization (GO:0030030), actin filament depolymerization (GO:0030042), negative regulation of actin filament polymerization (GO:0030837), regulation of microvillus length (GO:0032532), regulation of actin cytoskeleton organization (GO:0032956), positive regulation of axon extension (GO:0045773), barbed-end actin filament capping (GO:0051016), cellular response to retinoic acid (GO:0071300), cellular response to growth factor stimulus (GO:0071363)
GO Molecular Function (10): RNA binding (GO:0003723), actin monomer binding (GO:0003785), protein kinase C binding (GO:0005080), ATP binding (GO:0005524), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), cadherin binding (GO:0045296), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515), anion binding (GO:0043168)
GO Cellular Component (11): cytoplasm (GO:0005737), actin filament (GO:0005884), myofibril (GO:0030016), lamellipodium (GO:0030027), filopodium (GO:0030175), growth cone (GO:0030426), stereocilium (GO:0032420), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Sensory processing of sound | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| lamellipodium assembly | 2 |
| actin binding | 2 |
| actin-based cell projection | 2 |
| regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of lamellipodium organization | 1 |
| regulation of lamellipodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| positive regulation of lamellipodium organization | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| cellular component organization | 1 |
| actin polymerization or depolymerization | 1 |
| protein depolymerization | 1 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| negative regulation of protein polymerization | 1 |
| negative regulation of cytoskeleton organization | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| regulation of microvillus organization | 1 |
| regulation of cell projection size | 1 |
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| positive regulation of cell growth | 1 |
| regulation of axon extension | 1 |
| positive regulation of developmental growth | 1 |
| axon extension | 1 |
| positive regulation of axonogenesis | 1 |
| actin filament capping | 1 |
| response to retinoic acid | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to growth factor | 1 |
| cellular response to endogenous stimulus | 1 |
| nucleic acid binding | 1 |
| protein kinase binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
Protein interactions and networks
STRING
1148 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TWF2 | EPS8L2 | Q9H6S3 | 766 |
| TWF2 | GSN | P06396 | 763 |
| TWF2 | PFN4 | Q8NHR9 | 742 |
| TWF2 | TMOD4 | Q9NZQ9 | 733 |
| TWF2 | SCIN | Q9Y6U3 | 732 |
| TWF2 | CFL1 | P23528 | 731 |
| TWF2 | CFL2 | Q9Y281 | 727 |
| TWF2 | MYO15A | Q9UKN7 | 718 |
| TWF2 | PFN3 | P60673 | 680 |
| TWF2 | PFN1 | P07737 | 656 |
| TWF2 | MYO7A | P78427 | 646 |
| TWF2 | ESPN | B1AK53 | 626 |
| TWF2 | EPS8 | Q12929 | 625 |
| TWF2 | WHRN | Q9P202 | 604 |
| TWF2 | DBN1 | Q16643 | 568 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KHDRBS2 | KHDRBS3 | psi-mi:“MI:0914”(association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TWF2 | CAP2 | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7A | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7C | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZB | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| PDCD2L | PRMT3 | psi-mi:“MI:0914”(association) | 0.530 |
| TWF2 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.510 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| TWF2 | HMGN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TWF2 | POT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXJ1 | TWF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TWF2 | ILK | psi-mi:“MI:0915”(physical association) | 0.370 |
| TWF2 | ARHGDIA | psi-mi:“MI:0915”(physical association) | 0.370 |
| MYO1C | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Actb | psi-mi:“MI:0914”(association) | 0.350 | |
| LIMA1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Coro1c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNPO | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH9 | NAP1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| SCARB2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (128): TWF2 (Co-fractionation), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), TWF2 (Proximity Label-MS), CAP2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), CAP1 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), ACTB (Affinity Capture-MS)
ESM2 similar proteins: C4LVG4, P0CM06, P0CM07, P18359, P30174, P37167, P45593, P45594, P45695, P60981, P60982, P78929, Q03048, Q0DLA3, Q12792, Q17A58, Q298X4, Q39250, Q4P6E9, Q56JV6, Q5E9D5, Q5I082, Q5R7N2, Q5RFH1, Q5RJR2, Q5ZM35, Q640W2, Q67ZM4, Q68F50, Q6C0Y0, Q6CQ22, Q6EUH7, Q6FV81, Q6GMH3, Q6IBS0, Q6NX11, Q759P0, Q7M0E3, Q7QG28, Q7XSN9
Diamond homologs: C4LVG4, O15902, O49606, P0CM06, P0CM07, P0DJ26, P0DJ27, P10668, P18359, P18760, P21566, P23528, P30174, P30175, P37167, P45591, P45592, P45593, P45594, P45695, P46251, P60981, P60982, P78929, P86293, Q03048, Q07749, Q07750, Q0D744, Q0DLA3, Q10P87, Q12792, Q148F1, Q2QLT8, Q337A5, Q39250, Q39251, Q41764, Q43694, Q4I963
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the canonical BAF (cBAF) complex | 5 | 46.6× | 9e-06 |
| Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 5 | 33.6× | 3e-05 |
| Sensory processing of sound | 7 | 31.8× | 6e-07 |
| Regulation of MITF-M-dependent genes involved in pigmentation | 5 | 19.5× | 3e-04 |
| Sensory processing of sound by inner hair cells of the cochlea | 7 | 16.8× | 2e-05 |
| Sensory processing of sound by outer hair cells of the cochlea | 5 | 15.0× | 8e-04 |
| Regulation of actin dynamics for phagocytic cup formation | 5 | 13.5× | 1e-03 |
| MITF-M-dependent gene expression | 5 | 13.3× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of G0 to G1 transition | 5 | 38.3× | 8e-05 |
| regulation of nucleotide-excision repair | 5 | 34.2× | 8e-05 |
| regulation of mitotic metaphase/anaphase transition | 5 | 28.2× | 1e-04 |
| cell motility | 5 | 22.8× | 3e-04 |
| positive regulation of double-strand break repair | 5 | 19.5× | 5e-04 |
| regulation of G1/S transition of mitotic cell cycle | 5 | 17.4× | 8e-04 |
| cell morphogenesis | 5 | 8.9× | 1e-02 |
| chromatin remodeling | 10 | 8.3× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2081 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:52229079:ATGG:A | donor_gain | 1.0000 |
| 3:52229079:ATGGC:A | donor_gain | 1.0000 |
| 3:52229198:CAAT:C | acceptor_gain | 1.0000 |
| 3:52229202:C:CC | acceptor_gain | 1.0000 |
| 3:52229655:GCCTA:G | donor_loss | 1.0000 |
| 3:52229656:CCTA:C | donor_loss | 1.0000 |
| 3:52229657:CTA:C | donor_loss | 1.0000 |
| 3:52229657:CTACT:C | donor_loss | 1.0000 |
| 3:52229658:TA:T | donor_loss | 1.0000 |
| 3:52229659:A:AC | donor_gain | 1.0000 |
| 3:52229659:AC:A | donor_loss | 1.0000 |
| 3:52229659:ACTTT:A | donor_gain | 1.0000 |
| 3:52229660:C:CA | donor_gain | 1.0000 |
| 3:52229660:CT:C | donor_gain | 1.0000 |
| 3:52229660:CTT:C | donor_gain | 1.0000 |
| 3:52229660:CTTT:C | donor_gain | 1.0000 |
| 3:52229660:CTTTC:C | donor_gain | 1.0000 |
| 3:52229663:T:A | donor_gain | 1.0000 |
| 3:52229686:T:TA | donor_gain | 1.0000 |
| 3:52229764:G:T | acceptor_gain | 1.0000 |
| 3:52229778:GAACA:G | acceptor_gain | 1.0000 |
| 3:52229779:AACA:A | acceptor_gain | 1.0000 |
| 3:52229780:ACA:A | acceptor_gain | 1.0000 |
| 3:52229780:ACACT:A | acceptor_loss | 1.0000 |
| 3:52229781:CA:C | acceptor_gain | 1.0000 |
| 3:52229781:CAC:C | acceptor_gain | 1.0000 |
| 3:52229782:ACTGT:A | acceptor_loss | 1.0000 |
| 3:52229783:C:CC | acceptor_gain | 1.0000 |
| 3:52229784:T:G | acceptor_loss | 1.0000 |
| 3:52229916:TCA:T | donor_loss | 1.0000 |
AlphaMissense
2285 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:52229734:A:G | M270T | 1.000 |
| 3:52231979:A:G | W83R | 1.000 |
| 3:52231979:A:T | W83R | 1.000 |
| 3:52229109:C:A | K325N | 0.999 |
| 3:52229109:C:G | K325N | 0.999 |
| 3:52229115:G:C | F323L | 0.999 |
| 3:52229115:G:T | F323L | 0.999 |
| 3:52229117:A:G | F323L | 0.999 |
| 3:52229731:A:G | L271P | 0.999 |
| 3:52229733:C:A | M270I | 0.999 |
| 3:52229733:C:G | M270I | 0.999 |
| 3:52229733:C:T | M270I | 0.999 |
| 3:52229734:A:C | M270R | 0.999 |
| 3:52229734:A:T | M270K | 0.999 |
| 3:52231149:A:G | L154P | 0.999 |
| 3:52231454:C:T | G123E | 0.999 |
| 3:52231511:G:T | T104K | 0.999 |
| 3:52231514:G:T | A103D | 0.999 |
| 3:52231515:C:G | A103P | 0.999 |
| 3:52231517:G:T | A102E | 0.999 |
| 3:52231525:C:A | M99I | 0.999 |
| 3:52231525:C:G | M99I | 0.999 |
| 3:52231525:C:T | M99I | 0.999 |
| 3:52231526:A:C | M99R | 0.999 |
| 3:52231528:C:A | K98N | 0.999 |
| 3:52231528:C:G | K98N | 0.999 |
| 3:52231530:T:C | K98E | 0.999 |
| 3:52231964:A:G | W88R | 0.999 |
| 3:52231964:A:T | W88R | 0.999 |
| 3:52229147:G:C | H313D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000068381 (3:52235402 A>G), RS1000390993 (3:52232251 C>A,T), RS1001114664 (3:52235084 G>T), RS1001221291 (3:52229407 C>T), RS1001493418 (3:52230460 C>T), RS1002013580 (3:52238993 G>A), RS1002069504 (3:52233577 C>A), RS1002123525 (3:52233756 A>G), RS1002171806 (3:52236265 C>G), RS1002224326 (3:52236458 C>G), RS1002364426 (3:52238817 C>G), RS1002505685 (3:52237532 A>T), RS1002557991 (3:52237940 C>T), RS1002836792 (3:52236039 A>G,T), RS1002887073 (3:52230708 G>A)
Disease associations
OMIM: gene MIM:607433 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_15 | Bipolar disorder | 2.000000e-06 |
| GCST002149_14 | Schizophrenia | 1.000000e-08 |
| GCST004521_123 | Autism spectrum disorder or schizophrenia | 3.000000e-12 |
| GCST004521_201 | Autism spectrum disorder or schizophrenia | 4.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067403 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Twinfilin subfamily
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benztropine | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652731 | Binding | Binding affinity to human TWF2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3KC | Abcam HEK293T TWF2 KO | Transformed cell line | Female |
| CVCL_TV26 | HAP1 TWF2 (-) 1 | Cancer cell line | Male |
| CVCL_TV27 | HAP1 TWF2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.