TWF1

Summary

TWF1 (twinfilin actin binding protein 1, HGNC:9620) is a protein-coding gene on chromosome 12q12, encoding Twinfilin-1 (Q12792). Actin-binding protein involved in motile and morphological processes. It is a selective cancer dependency (DepMap: 33.0% of cell lines).

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 be regulated by the small GTPase RAC1.

Source: NCBI Gene 5756 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 19 total
• Cancer dependency (DepMap): dependent in 33.0% of screened cell lines
• MANE Select transcript: NM_002822

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9620
Approved symbol	TWF1
Name	twinfilin actin binding protein 1
Location	12q12
Locus type	gene with protein product
Status	Approved
Aliases	A6
Ensembl gene	ENSG00000151239
Ensembl biotype	protein_coding
OMIM	610932
Entrez	5756

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000395510, ENST00000546506, ENST00000546662, ENST00000547459, ENST00000547564, ENST00000547961, ENST00000548315, ENST00000548403, ENST00000550371, ENST00000551789, ENST00000552521, ENST00000867316, ENST00000922447, ENST00000922448, ENST00000963047, ENST00000963048

RefSeq mRNA: 2 — MANE Select: NM_002822 NM_001242397, NM_002822

CCDS: CCDS31780, CCDS55818

Canonical transcript exons

ENST00000395510 — 9 exons

Exon	Start	End
ENSE00001389614	43806221	43806317
ENSE00002328159	43793723	43795755
ENSE00003476470	43804495	43804572
ENSE00003494760	43800435	43800530
ENSE00003532269	43797708	43797833
ENSE00003585642	43802286	43802464
ENSE00003638359	43796976	43797097
ENSE00003680756	43799398	43799502
ENSE00003791657	43797302	43797452

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 98.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4514 / max 265.9175, expressed in 1742 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130506	9.8788	1715
130507	1.2233	857
130508	1.1477	752
130505	0.2016	60

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.75	gold quality
palpebral conjunctiva	UBERON:0001812	98.45	gold quality
esophagus squamous epithelium	UBERON:0006920	98.31	gold quality
seminal vesicle	UBERON:0000998	98.16	gold quality
gingival epithelium	UBERON:0001949	97.98	gold quality
gingiva	UBERON:0001828	97.88	gold quality
epithelium of nasopharynx	UBERON:0001951	97.67	gold quality
calcaneal tendon	UBERON:0003701	97.55	gold quality
oocyte	CL:0000023	97.50	gold quality
oral cavity	UBERON:0000167	97.41	gold quality
squamous epithelium	UBERON:0006914	97.40	gold quality
jejunal mucosa	UBERON:0000399	97.35	gold quality
islet of Langerhans	UBERON:0000006	97.33	gold quality
rectum	UBERON:0001052	97.30	gold quality
penis	UBERON:0000989	97.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.19	gold quality
tongue squamous epithelium	UBERON:0006919	97.13	gold quality
epithelium of esophagus	UBERON:0001976	97.12	gold quality
nasal cavity mucosa	UBERON:0001826	97.01	gold quality
colonic mucosa	UBERON:0000317	96.93	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.78	gold quality
lateral globus pallidus	UBERON:0002476	96.73	gold quality
pharyngeal mucosa	UBERON:0000355	96.64	gold quality
corpus callosum	UBERON:0002336	96.48	gold quality
gall bladder	UBERON:0002110	96.33	gold quality
nasal cavity epithelium	UBERON:0005384	96.30	gold quality
esophagus mucosa	UBERON:0002469	96.22	gold quality
smooth muscle tissue	UBERON:0001135	96.14	gold quality
ventricular zone	UBERON:0003053	96.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB, PITX2

miRNA regulators (miRDB)

192 targeting TWF1, 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-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 33.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 11)

• These data suggest that the association with an actin monomer induces a first-order conformational change within the twinfilin molecule. (PMID:12429826)
• mammals have two twinfilin isoforms, which are differentially expressed and regulated through distinct cellular signaling pathways (PMID:12807912)
• protein overexpression promotes cardiomyocyte hypertrophy (PMID:20571053)
• TWF1 and VIM are required for miR-30c to regulate breast cancer cell invasion. (PMID:23224145)
• An interleukin-6 family member, interleukin-11 is identified as a secondary target of twinfilin 1 in the microRNA-30c signalling pathway. (PMID:23340433)
• Univariate Cox regression analysis showed high expression of TWF1 to be independent prognostic indicator involved in overall survival and recurrence-free survival in lung adenocarcinoma, but not in lung squamous cell carcinoma (PMID:30391462)
• High TWF1 expression is associated with nonsmall-cell lung cancer. (PMID:31117868)
• the miR-30c/TWF1 axis may have a role in pancreatic cancer progression (PMID:31754292)
• Multifunctional Liposomes Enable Active Targeting and Twinfilin 1 Silencing to Reverse Paclitaxel Resistance in Brain Metastatic Breast Cancer. (PMID:33982563)
• Long non-coding RNA FGD5-AS1 contributes to cisplatin resistance in hepatocellular carcinoma via sponging microRNA-153-3p by upregulating Twinfilin Actin Binding Protein 1 (TWF1). (PMID:34519634)
• TWF1 induces autophagy and accelerates malignant phenotype in lung adenocarcinoma via inhibiting the cAMP signaling pathway. (PMID:37358822)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	twf1b	ENSDARG00000011661
danio_rerio	twf1a	ENSDARG00000115712
mus_musculus	Twf1	ENSMUSG00000022451
rattus_norvegicus	Twf1	ENSRNOG00000022507
drosophila_melanogaster	twf	FBGN0038206
caenorhabditis_elegans		WBGENE00018187

Paralogs (1): TWF2 (ENSG00000247596)

Protein

Protein identifiers

Twinfilin-1 — Q12792 (reviewed: Q12792)

Alternative names: Protein A6, Protein tyrosine kinase 9

All UniProt accessions (6): Q12792, F8VRG3, F8VS81, F8W1D0, F8W1Q9, F8W645

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.

Subunit / interactions. Interacts with G-actin; ADP-actin form and capping protein (CP). May also be able to interact with TWF2 and phosphoinositides, PI(4,5)P2. When bound to PI(4,5)P2, it is down-regulated. Interacts with ACTG1.

Subcellular location. Cytoplasm. Cytoskeleton.

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.

Post-translational modifications. Phosphorylated on serine and threonine residues.

Disease relevance. Defects in TWF1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.

Similarity. Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q12792-2	1	yes
Q12792-3	3
Q12792-4	4

RefSeq proteins (2): NP_001229326, NP_002813* (*=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 (47 total): helix 15, strand 11, sequence conflict 5, modified residue 5, turn 3, splice variant 2, domain 2, initiator methionine 1, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7CCC	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12792-F1	86.03	0.72

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 (5): 2, 143, 277, 309, 349

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9013418	RHOBTB2 GTPase cycle
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: 340 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_BARBED_END_ACTIN_FILAMENT_CAPPING, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, chr12q12, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, KYNG_DNA_DAMAGE_DN, GOBP_NEUROGENESIS

GO Biological Process (6): regulation of lamellipodium assembly (GO:0010591), positive regulation of cardiac muscle hypertrophy (GO:0010613), positive regulation of neuron projection development (GO:0010976), actin filament depolymerization (GO:0030042), negative regulation of actin filament polymerization (GO:0030837), barbed-end actin filament capping (GO:0051016)

GO Molecular Function (9): actin binding (GO:0003779), actin monomer binding (GO:0003785), ATP binding (GO:0005524), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), cadherin binding (GO:0045296), actin filament binding (GO:0051015), protein binding (GO:0005515), anion binding (GO:0043168), protein-containing complex binding (GO:0044877)

GO Cellular Component (11): cytoplasm (GO:0005737), cytosol (GO:0005829), actin filament (GO:0005884), cell-cell junction (GO:0005911), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), myofibril (GO:0030016), filopodium (GO:0030175), ruffle membrane (GO:0032587), perinuclear region of cytoplasm (GO:0048471), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory processing of sound	2
RHOBTB GTPase Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
actin binding	2
binding	2
cytoplasm	2
lamellipodium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of lamellipodium organization	1
cardiac muscle hypertrophy	1
regulation of cardiac muscle hypertrophy	1
positive regulation of muscle hypertrophy	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection 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
actin filament capping	1
cytoskeletal protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
cell adhesion molecule binding	1
protein-containing complex binding	1
ion binding	1
intracellular anatomical structure	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
anchoring junction	1
cell-substrate junction	1
cytoskeleton	1
contractile muscle fiber	1
actin-based cell projection	1
ruffle	1
cell projection membrane	1
leading edge membrane	1

Protein interactions and networks

STRING

1274 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TWF1	DSTN	P18282	843
TWF1	CFL1	P23528	815
TWF1	CFL2	Q9Y281	813
TWF1	GSN	P06396	781
TWF1	PFN4	Q8NHR9	716
TWF1	RAC2	P15153	683
TWF1	PFN3	P60673	647
TWF1	PFN1	P07737	638
TWF1	TMOD4	Q9NZQ9	638
TWF1	ACTN1	P12814	586
TWF1	CORO1C	Q9ULV4	558
TWF1	DBN1	Q16643	531
TWF1	WDR1	O75083	519
TWF1	GMFG	O60234	516
TWF1	CACTIN	Q8WUQ7	507

IntAct

87 interactions, top by confidence:

A	B	Type	Score
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
BCL7A	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
CSNK2B	TWF1	psi-mi:“MI:0915”(physical association)	0.560
DAPK1	SVIL	psi-mi:“MI:0914”(association)	0.530
TWF1	MYO1C	psi-mi:“MI:0914”(association)	0.530
DBN1	SVIL	psi-mi:“MI:0914”(association)	0.530
MTPN	CAPZA2	psi-mi:“MI:0914”(association)	0.530
SSH1	GSN	psi-mi:“MI:0914”(association)	0.530
TWF1	TIGAR	psi-mi:“MI:0915”(physical association)	0.400
CCP110	TWF1	psi-mi:“MI:0915”(physical association)	0.370
Ppp1cb	MYO1C	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
PRICKLE3	UBL4A	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (215): TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), AIMP1 (Co-fractionation), EEF1E1 (Co-fractionation), HNRNPF (Co-fractionation), TWF1 (Co-fractionation), TWF1 (Co-fractionation), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS), TWF1 (Affinity Capture-MS)

ESM2 similar proteins: A0A6B9KZ40, A8XV95, B8ATT7, O65570, O75366, O81644, O81645, O88398, O93510, P02640, P06396, P09327, P10733, P13020, P14885, P20305, P24452, P40121, Q07171, Q0J716, Q0JAD9, Q10L71, Q12792, Q17A58, Q24800, Q27319, Q28046, Q28372, Q29261, Q29297, Q298X4, Q3SX14, Q3SZP7, Q5R7N2, Q5RJR2, Q5ZIV9, Q60604, Q62468, Q67U26, Q68FP1

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 97 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
Sensory processing of sound	6	28.1×	3e-05
RHO GTPases activate IQGAPs	5	26.2×	7e-05
Parasite infection	5	26.2×	7e-05
Leishmania phagocytosis	5	26.2×	7e-05
Fcgamma receptor (FCGR) dependent phagocytosis	5	21.1×	1e-04
Sensory processing of sound by outer hair cells of the cochlea	6	18.5×	7e-05
Sensory processing of sound by inner hair cells of the cochlea	7	17.3×	4e-05
Regulation of actin dynamics for phagocytic cup formation	6	16.7×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
barbed-end actin filament capping	5	48.9×	4e-05
chromatin remodeling	8	7.1×	3e-03
actin cytoskeleton organization	7	6.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

19 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1817 predictions. Top by Δscore:

Variant	Effect	Δscore
12:43795751:TCGAT:T	acceptor_gain	1.0000
12:43795752:CGAT:C	acceptor_gain	1.0000
12:43795752:CGATC:C	acceptor_gain	1.0000
12:43795753:GAT:G	acceptor_gain	1.0000
12:43795754:AT:A	acceptor_gain	1.0000
12:43795755:TC:T	acceptor_loss	1.0000
12:43795756:C:CC	acceptor_gain	1.0000
12:43795756:C:CG	acceptor_loss	1.0000
12:43795765:A:C	acceptor_gain	1.0000
12:43796989:T:TA	donor_gain	1.0000
12:43797077:C:CT	acceptor_gain	1.0000
12:43797077:C:T	acceptor_gain	1.0000
12:43797078:A:T	acceptor_gain	1.0000
12:43797093:AAAAA:A	acceptor_gain	1.0000
12:43797094:AAAA:A	acceptor_gain	1.0000
12:43797095:AAA:A	acceptor_gain	1.0000
12:43797096:AA:A	acceptor_gain	1.0000
12:43797097:AC:A	acceptor_loss	1.0000
12:43797098:C:CC	acceptor_gain	1.0000
12:43797099:T:G	acceptor_loss	1.0000
12:43797303:TATGG:T	donor_gain	1.0000
12:43797304:ATGGA:A	donor_gain	1.0000
12:43797367:T:TA	donor_gain	1.0000
12:43797702:TCTTA:T	donor_loss	1.0000
12:43797703:CTTA:C	donor_loss	1.0000
12:43797704:TTA:T	donor_loss	1.0000
12:43797706:A:AC	donor_gain	1.0000
12:43797706:A:AG	donor_loss	1.0000
12:43797707:C:CC	donor_gain	1.0000
12:43797707:CCAA:C	donor_gain	1.0000

AlphaMissense

2295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:43802321:A:G	W83R	0.999
12:43802321:A:T	W83R	0.999
12:43797049:A:G	M270T	0.998
12:43797052:C:G	R269P	0.998
12:43802306:A:G	W88R	0.998
12:43802306:A:T	W88R	0.998
12:43797046:A:G	L271P	0.997
12:43797358:C:G	R235P	0.997
12:43800445:C:T	G123E	0.997
12:43800505:G:T	A103E	0.997
12:43800506:C:G	A103P	0.997
12:43800508:G:T	A102E	0.997
12:43797097:A:T	V254D	0.996
12:43797356:A:C	Y236D	0.996
12:43799420:A:G	L154P	0.996
12:43800490:A:G	L108P	0.996
12:43800502:G:T	T104K	0.996
12:43800509:C:G	A102P	0.996
12:43806226:A:G	I7T	0.996
12:43797086:A:G	S258P	0.995
12:43800502:G:C	T104R	0.995
12:43800516:C:A	M99I	0.995
12:43800516:C:G	M99I	0.995
12:43800516:C:T	M99I	0.995
12:43800517:A:C	M99R	0.995
12:43800517:A:T	M99K	0.995
12:43800519:T:A	K98N	0.995
12:43800519:T:G	K98N	0.995
12:43806230:C:G	G6R	0.995
12:43795627:T:A	R337S	0.994

dbSNP variants (sampled 300 via entrez): RS1000142159 (12:43794431 A>C,G), RS1000407122 (12:43808011 C>T), RS1000586723 (12:43803626 G>C), RS1000747327 (12:43796078 C>T), RS1000987648 (12:43803331 T>C), RS1001097825 (12:43796162 T>C), RS1001594800 (12:43804917 CCTG>C), RS1001689121 (12:43797808 G>A), RS1002044064 (12:43805193 G>A), RS1002201279 (12:43800355 G>A,C,T), RS1002232395 (12:43800022 C>A,G), RS1002649858 (12:43806195 C>G,T), RS1002886867 (12:43806738 C>G), RS1003011045 (12:43804028 T>G), RS1003191006 (12:43793682 TAAAA>T,TAAAAA)

Disease associations

OMIM: gene MIM:610932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003602_9	Inflammatory bowel disease	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
decabromobiphenyl ether	decreases expression	1
kojic acid	decreases expression	1
trichostatin A	decreases expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	increases expression	1
tetrabromobisphenol A	decreases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
cyanoginosin LR	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
torcetrapib	increases expression	1
bisphenol B	increases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2JZ	Abcam HeLa TWF1 KO	Cancer cell line	Female
CVCL_TV25	HAP1 TWF1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.