CleftGeneDB-Search

Gene: TWF2

Basic information

Tag	Content
Uniprot ID	Q6IBS0; Q9Y3F5;
Entrez ID	11344
Genbank protein ID	AAH00327.1; CAG38551.1; AAH03161.1; AAH16452.1; CAG33013.1; AAQ13513.1; CAB66707.1; CAB38055.1;
Genbank nucleotide ID	NM_007284.3
Ensembl protein ID	ENSP00000303908
Ensembl nucleotide ID	ENSG00000247596
Gene name	Twinfilin-2
Gene symbol	TWF2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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 (By similarity).
Sequence	MAHQTGIHAT EELKEFFAKA RAGSVRLIKV VIEDEQLVLG ASQEPVGRWD QDYDRAVLPL 60 LDAQQPCYLL YRLDSQNAQG FEWLFLAWSP DNSPVRLKML YAATRATVKK EFGGGHIKDE 120 LFGTVKDDLS FAGYQKHLSS CAAPAPLTSA ERELQQIRIN EVKTEISVES KHQTLQGLAF 180 PLQPEAQRAL QQLKQKMVNY IQMKLDLERE TIELVHTEPT DVAQLPSRVP RDAARYHFFL 240 YKHTHEGDPL ESVVFIYSMP GYKCSIKERM LYSSCKSRLL DSVEQDFHLE IAKKIEIGDG 300 AELTAEFLYD EVHPKQHAFK QAFAKPKGPG GKRGHKRLIR GPGENGDDS 349

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2VAC
2W0I
2VAC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TWF2	282024	A2VDX0		Bos taurus	Prediction	More>>
1:1 ortholog	TWF2		E2RGD3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TWF2	102173426	A0A452EMB1		Capra hircus	Prediction	More>>
1:1 ortholog	TWF2	11344	Q6IBS0		Homo sapiens	Prediction	More>>
1:1 ortholog	Twf2	23999	Q9Z0P5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TWF2		H2QMR1		Pan troglodytes	Prediction	More>>
1:1 ortholog		106504190	A0A4X1VPA1		Sus scrofa	Prediction	More>>
1:1 ortholog	TWF2		G1TX74		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Twf2	684352	B0BMY7		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs771261176	p.Thr5Met	missense variant	-	NC_000003.12:g.52239003G>A	ExAC,TOPMed,gnomAD
rs1379785416	p.His8Arg	missense variant	-	NC_000003.12:g.52238994T>C	gnomAD
rs1476233629	p.Ala9Val	missense variant	-	NC_000003.12:g.52235106G>A	gnomAD
rs74538868	p.Thr10Met	missense variant	-	NC_000003.12:g.52235103G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1258251485	p.Thr10Ala	missense variant	-	NC_000003.12:g.52235104T>C	gnomAD
rs201502895	p.Glu12Gly	missense variant	-	NC_000003.12:g.52235097T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751147681	p.Glu12Asp	missense variant	-	NC_000003.12:g.52235096C>G	ExAC,gnomAD
rs1001114664	p.Phe16Leu	missense variant	-	NC_000003.12:g.52235084G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe16Leu	missense variant	-	NC_000003.12:g.52235084G>C	NCI-TCGA
COSM3993199	p.Phe17Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52235082A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys19ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.52235078G>-	NCI-TCGA
rs375469647	p.Arg21Leu	missense variant	-	NC_000003.12:g.52235070C>A	ESP,ExAC,TOPMed,gnomAD
rs34008749	p.Arg21Trp	missense variant	-	NC_000003.12:g.52235071G>A	ESP,ExAC,TOPMed,gnomAD
rs375469647	p.Arg21Gln	missense variant	-	NC_000003.12:g.52235070C>T	ESP,ExAC,TOPMed,gnomAD
rs1223080024	p.Ala22Thr	missense variant	-	NC_000003.12:g.52235068C>T	TOPMed
rs370855296	p.Gly23Ser	missense variant	-	NC_000003.12:g.52235065C>T	ESP,ExAC,TOPMed,gnomAD
rs1300337896	p.Ser24Phe	missense variant	-	NC_000003.12:g.52235061G>A	gnomAD
rs1443391799	p.Val25Met	missense variant	-	NC_000003.12:g.52235059C>T	gnomAD
rs149287459	p.Arg26Gln	missense variant	-	NC_000003.12:g.52235055C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772397152	p.Arg26Trp	missense variant	-	NC_000003.12:g.52235056G>A	ExAC,gnomAD
rs145603944	p.Ile28Leu	missense variant	-	NC_000003.12:g.52235050T>G	1000Genomes,ExAC,gnomAD
rs1471609458	p.Lys29Arg	missense variant	-	NC_000003.12:g.52235046T>C	gnomAD
rs1413996261	p.Val30Phe	missense variant	-	NC_000003.12:g.52235044C>A	TOPMed
rs979371815	p.Val30Ala	missense variant	-	NC_000003.12:g.52235043A>G	TOPMed
rs1410079367	p.Ile32Thr	missense variant	-	NC_000003.12:g.52235037A>G	gnomAD
rs1177659400	p.Glu33Lys	missense variant	-	NC_000003.12:g.52235035C>T	gnomAD
rs542542496	p.Glu33Val	missense variant	-	NC_000003.12:g.52235034T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745768617	p.Glu35Lys	missense variant	-	NC_000003.12:g.52235029C>T	ExAC,TOPMed,gnomAD
rs1289504178	p.Gln36His	missense variant	-	NC_000003.12:g.52232118C>A	gnomAD
rs758055334	p.Leu37Val	missense variant	-	NC_000003.12:g.52232117G>C	ExAC,TOPMed,gnomAD
rs758055334	p.Leu37Ile	missense variant	-	NC_000003.12:g.52232117G>T	ExAC,TOPMed,gnomAD
rs754437632	p.Val38Leu	missense variant	-	NC_000003.12:g.52232114C>G	ExAC,TOPMed,gnomAD
rs754437632	p.Val38Met	missense variant	-	NC_000003.12:g.52232114C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser42Leu	missense variant	-	NC_000003.12:g.52232101G>A	NCI-TCGA
rs1432373510	p.Gln43Pro	missense variant	-	NC_000003.12:g.52232098T>G	gnomAD
rs1381758509	p.Glu44Asp	missense variant	-	NC_000003.12:g.52232094C>G	TOPMed,gnomAD
rs750964094	p.Val46Ala	missense variant	-	NC_000003.12:g.52232089A>G	ExAC,gnomAD
rs1186315338	p.Val46Ile	missense variant	-	NC_000003.12:g.52232090C>T	gnomAD
rs767848268	p.Gly47Asp	missense variant	-	NC_000003.12:g.52232086C>T	ExAC,gnomAD
rs757765559	p.Arg48Cys	missense variant	-	NC_000003.12:g.52232084G>A	ExAC,TOPMed,gnomAD
rs377061100	p.Arg48Pro	missense variant	-	NC_000003.12:g.52232083C>G	ESP,ExAC,TOPMed,gnomAD
rs377061100	p.Arg48His	missense variant	-	NC_000003.12:g.52232083C>T	ESP,ExAC,TOPMed,gnomAD
rs763313291	p.Asp50Val	missense variant	-	NC_000003.12:g.52232077T>A	ExAC,gnomAD
rs764485770	p.Asp50His	missense variant	-	NC_000003.12:g.52232078C>G	ExAC,gnomAD
rs775804272	p.Gln51Arg	missense variant	-	NC_000003.12:g.52232074T>C	ExAC,TOPMed,gnomAD
rs765439059	p.Tyr53Cys	missense variant	-	NC_000003.12:g.52232068T>C	ExAC,gnomAD
rs373912432	p.Val57Met	missense variant	-	NC_000003.12:g.52232057C>T	ESP,ExAC,TOPMed,gnomAD
rs138252487	p.Pro59Ser	missense variant	-	NC_000003.12:g.52232051G>A	ESP,ExAC,TOPMed
rs1191645102	p.Ala63Thr	missense variant	-	NC_000003.12:g.52232039C>T	TOPMed
rs1395527572	p.Ala63Asp	missense variant	-	NC_000003.12:g.52232038G>T	TOPMed,gnomAD
rs772921841	p.Gln64Arg	missense variant	-	NC_000003.12:g.52232035T>C	ExAC,gnomAD
rs771881416	p.Cys67Trp	missense variant	-	NC_000003.12:g.52232025G>C	ExAC,gnomAD
rs1193974257	p.Leu70Phe	missense variant	-	NC_000003.12:g.52232018G>A	TOPMed
rs35114109	p.Arg72Cys	missense variant	-	NC_000003.12:g.52232012G>A	ExAC,TOPMed,gnomAD
rs35114109	p.Arg72Cys	missense variant	-	NC_000003.12:g.52232012G>A	UniProt,dbSNP
VAR_042407	p.Arg72Cys	missense variant	-	NC_000003.12:g.52232012G>A	UniProt
rs748851110	p.Arg72His	missense variant	-	NC_000003.12:g.52232011C>T	ExAC,gnomAD
rs748851110	p.Arg72Leu	missense variant	-	NC_000003.12:g.52232011C>A	ExAC,gnomAD
rs369768683	p.Asp74Asn	missense variant	-	NC_000003.12:g.52232006C>T	ESP,ExAC,TOPMed,gnomAD
rs1402281025	p.Asp74Glu	missense variant	-	NC_000003.12:g.52232004G>C	TOPMed
rs35711542	p.Gln76Arg	missense variant	-	NC_000003.12:g.52231999T>C	UniProt,dbSNP
VAR_042408	p.Gln76Arg	missense variant	-	NC_000003.12:g.52231999T>C	UniProt
rs35711542	p.Gln76Arg	missense variant	-	NC_000003.12:g.52231999T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1190753952	p.Gln79Leu	missense variant	-	NC_000003.12:g.52231990T>A	gnomAD
rs1039366922	p.Glu82Lys	missense variant	-	NC_000003.12:g.52231982C>T	gnomAD
rs765497422	p.Ala87Ser	missense variant	-	NC_000003.12:g.52231967C>A	ExAC,TOPMed,gnomAD
rs765497422	p.Ala87Thr	missense variant	-	NC_000003.12:g.52231967C>T	ExAC,TOPMed,gnomAD
rs376043177	p.Ser89Ter	stop gained	-	NC_000003.12:g.52231960G>T	ESP,ExAC,gnomAD
rs376043177	p.Ser89Leu	missense variant	-	NC_000003.12:g.52231960G>A	ESP,ExAC,gnomAD
rs1295170453	p.Asp91Gly	missense variant	-	NC_000003.12:g.52231954T>C	gnomAD
rs975618192	p.Asn92Asp	missense variant	-	NC_000003.12:g.52231952T>C	TOPMed,gnomAD
rs1349782135	p.Ser93Pro	missense variant	-	NC_000003.12:g.52231949A>G	gnomAD
NCI-TCGA novel	p.Val95CysPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.52231527_52231539TCTTCAGCCGCAC>-	NCI-TCGA
NCI-TCGA novel	p.Val95Leu	missense variant	-	NC_000003.12:g.52231539C>A	NCI-TCGA
NCI-TCGA novel	p.Val95AlaPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.52231525_52231538CATCTTCAGCCGCA>-	NCI-TCGA
COSM731138	p.Arg96Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52231536G>C	NCI-TCGA Cosmic
rs754071775	p.Arg96Pro	missense variant	-	NC_000003.12:g.52231535C>G	ExAC,TOPMed,gnomAD
rs754071775	p.Arg96Gln	missense variant	-	NC_000003.12:g.52231535C>T	ExAC,TOPMed,gnomAD
rs755292436	p.Arg96Trp	missense variant	-	NC_000003.12:g.52231536G>A	ExAC,gnomAD
rs760771687	p.Leu97Val	missense variant	-	NC_000003.12:g.52231533G>C	ExAC,gnomAD
rs1257637790	p.Met99Ile	missense variant	-	NC_000003.12:g.52231525C>A	TOPMed
NCI-TCGA novel	p.Met99IlePheSerTerUnkUnk	frameshift	-	NC_000003.12:g.52231525C>-	NCI-TCGA
rs538722603	p.Ala102Thr	missense variant	-	NC_000003.12:g.52231518C>T	1000Genomes
rs774167761	p.Thr104Met	missense variant	-	NC_000003.12:g.52231511G>A	ExAC,TOPMed,gnomAD
rs775166989	p.Arg105Gln	missense variant	-	NC_000003.12:g.52231508C>T	ExAC,TOPMed,gnomAD
rs1062714	p.Arg105Trp	missense variant	-	NC_000003.12:g.52231509G>A	ExAC,gnomAD
rs1062714	p.Arg105Gly	missense variant	-	NC_000003.12:g.52231509G>C	ExAC,gnomAD
rs775166989	p.Arg105Leu	missense variant	-	NC_000003.12:g.52231508C>A	ExAC,TOPMed,gnomAD
rs372234847	p.Ala106Pro	missense variant	-	NC_000003.12:g.52231506C>G	ESP,ExAC,TOPMed,gnomAD
rs1206877603	p.Val108Ala	missense variant	-	NC_000003.12:g.52231499A>G	gnomAD
rs556130658	p.Val108Met	missense variant	-	NC_000003.12:g.52231500C>T	1000Genomes,ExAC,gnomAD
rs1351298637	p.Lys109Arg	missense variant	-	NC_000003.12:g.52231496T>C	gnomAD
COSM1424368	p.Lys110ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.52231493T>-	NCI-TCGA Cosmic
rs776266989	p.Glu111Lys	missense variant	-	NC_000003.12:g.52231491C>T	ExAC,gnomAD
rs1372839865	p.Phe112Tyr	missense variant	-	NC_000003.12:g.52231487A>T	gnomAD
COSM1485362	p.Gly114Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52231481C>A	NCI-TCGA Cosmic
rs200379551	p.Gly114Ala	missense variant	-	NC_000003.12:g.52231481C>G	ExAC,TOPMed,gnomAD
rs779470731	p.Gly115Ala	missense variant	-	NC_000003.12:g.52231478C>G	ExAC,TOPMed,gnomAD
rs755323359	p.Ile117Val	missense variant	-	NC_000003.12:g.52231473T>C	ExAC,gnomAD
rs1173487420	p.Gly123Arg	missense variant	-	NC_000003.12:g.52231455C>T	gnomAD
rs756165427	p.Val125Met	missense variant	-	NC_000003.12:g.52231449C>T	ExAC,gnomAD
rs987229224	p.Asp127Tyr	missense variant	-	NC_000003.12:g.52231231C>A	gnomAD
rs758255337	p.Asp127Glu	missense variant	-	NC_000003.12:g.52231229A>C	ExAC,TOPMed,gnomAD
rs994125870	p.Gln135Ter	stop gained	-	NC_000003.12:g.52231207G>A	TOPMed
rs759283224	p.Gln135Arg	missense variant	-	NC_000003.12:g.52231206T>C	ExAC,gnomAD
rs202032026	p.Ser139Leu	missense variant	-	NC_000003.12:g.52231194G>A	ExAC,TOPMed,gnomAD
rs775014939	p.Cys141Tyr	missense variant	-	NC_000003.12:g.52231188C>T	ExAC,gnomAD
rs1393892579	p.Ala142Pro	missense variant	-	NC_000003.12:g.52231186C>G	gnomAD
rs1162856520	p.Ala142Val	missense variant	-	NC_000003.12:g.52231185G>A	gnomAD
rs1418491451	p.Ala143Thr	missense variant	-	NC_000003.12:g.52231183C>T	gnomAD
rs1176491130	p.Ala143Gly	missense variant	-	NC_000003.12:g.52231182G>C	gnomAD
rs1238457593	p.Pro144Ser	missense variant	-	NC_000003.12:g.52231180G>A	TOPMed
rs369525716	p.Ala145Val	missense variant	-	NC_000003.12:g.52231176G>A	ESP,ExAC,TOPMed,gnomAD
rs1335993865	p.Ala145Ser	missense variant	-	NC_000003.12:g.52231177C>A	gnomAD
rs937079388	p.Pro146Gln	missense variant	-	NC_000003.12:g.52231173G>T	TOPMed,gnomAD
rs937079388	p.Pro146Leu	missense variant	-	NC_000003.12:g.52231173G>A	TOPMed,gnomAD
rs775968743	p.Ser149Thr	missense variant	-	NC_000003.12:g.52231165A>T	ExAC
rs770001792	p.Ser149Leu	missense variant	-	NC_000003.12:g.52231164G>A	ExAC,TOPMed,gnomAD
rs200149703	p.Arg152Ile	missense variant	-	NC_000003.12:g.52231155C>A	ExAC,TOPMed,gnomAD
rs141346827	p.Gln156Lys	missense variant	-	NC_000003.12:g.52231144G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758401611	p.Arg158Cys	missense variant	-	NC_000003.12:g.52231138G>A	ExAC,TOPMed,gnomAD
rs752555088	p.Arg158His	missense variant	-	NC_000003.12:g.52231137C>T	ExAC,gnomAD
rs758401611	p.Arg158Gly	missense variant	-	NC_000003.12:g.52231138G>C	ExAC,TOPMed,gnomAD
rs1281613518	p.Glu161Lys	missense variant	-	NC_000003.12:g.52231129C>T	gnomAD
rs898704194	p.Thr164Ala	missense variant	-	NC_000003.12:g.52230989T>C	gnomAD
rs373959049	p.Glu165Gly	missense variant	-	NC_000003.12:g.52230985T>C	ESP,ExAC,gnomAD
rs1346901503	p.Glu165Gln	missense variant	-	NC_000003.12:g.52230986C>G	gnomAD
rs373959049	p.Glu165Val	missense variant	-	NC_000003.12:g.52230985T>A	ESP,ExAC,gnomAD
rs551290450	p.Ile166Met	missense variant	-	NC_000003.12:g.52230981G>C	TOPMed,gnomAD
rs1175173725	p.Ser167Ile	missense variant	-	NC_000003.12:g.52230979C>A	gnomAD
rs1175173725	p.Ser167Asn	missense variant	-	NC_000003.12:g.52230979C>T	gnomAD
rs771997419	p.Val168Gly	missense variant	-	NC_000003.12:g.52230976A>C	ExAC,gnomAD
rs1454427161	p.Val168Met	missense variant	-	NC_000003.12:g.52230977C>T	gnomAD
rs748149583	p.Ser170Gly	missense variant	-	NC_000003.12:g.52230971T>C	ExAC,gnomAD
rs778651117	p.Lys171Glu	missense variant	-	NC_000003.12:g.52230968T>C	ExAC,gnomAD
rs187719121	p.Gln173His	missense variant	-	NC_000003.12:g.52230960C>G	1000Genomes,ExAC,gnomAD
rs1329442891	p.Leu175Pro	missense variant	-	NC_000003.12:g.52230955A>G	TOPMed
rs753746677	p.Gln176His	missense variant	-	NC_000003.12:g.52230951C>G	ExAC,gnomAD
rs1275968157	p.Gly177Asp	missense variant	-	NC_000003.12:g.52230949C>T	TOPMed
rs375895610	p.Ala179Ser	missense variant	-	NC_000003.12:g.52230944C>A	ESP,ExAC,TOPMed,gnomAD
rs114935680	p.Ala179Val	missense variant	-	NC_000003.12:g.52230943G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375895610	p.Ala179Thr	missense variant	-	NC_000003.12:g.52230944C>T	ESP,ExAC,TOPMed,gnomAD
rs1216912495	p.Pro181Arg	missense variant	-	NC_000003.12:g.52230937G>C	TOPMed
rs767082492	p.Gln183Leu	missense variant	-	NC_000003.12:g.52230931T>A	ExAC,gnomAD
rs1195809438	p.Pro184Arg	missense variant	-	NC_000003.12:g.52230928G>C	TOPMed,gnomAD
rs1469134386	p.Glu185Gly	missense variant	-	NC_000003.12:g.52230925T>C	TOPMed,gnomAD
rs1414064111	p.Ala186Thr	missense variant	-	NC_000003.12:g.52230923C>T	gnomAD
rs761159375	p.Gln187Arg	missense variant	-	NC_000003.12:g.52230919T>C	ExAC,gnomAD
rs201759490	p.Arg188Gln	missense variant	-	NC_000003.12:g.52230916C>T	ESP,ExAC,TOPMed,gnomAD
rs765720266	p.Arg188Trp	missense variant	-	NC_000003.12:g.52230917G>A	ExAC,TOPMed,gnomAD
rs765720266	p.Arg188Gly	missense variant	-	NC_000003.12:g.52230917G>C	ExAC,TOPMed,gnomAD
rs201759490	p.Arg188Pro	missense variant	-	NC_000003.12:g.52230916C>G	ESP,ExAC,TOPMed,gnomAD
rs1167806975	p.Gln191Ter	stop gained	-	NC_000003.12:g.52230908G>A	gnomAD
rs777047645	p.Gln191Arg	missense variant	-	NC_000003.12:g.52230907T>C	ExAC,gnomAD
rs1156729543	p.Leu193Val	missense variant	-	NC_000003.12:g.52230902G>C	TOPMed
rs1250995074	p.Ile201Thr	missense variant	-	NC_000003.12:g.52230877A>G	gnomAD
rs370171952	p.Lys204Asn	missense variant	-	NC_000003.12:g.52230068C>G	ESP,ExAC,TOPMed,gnomAD
rs370171952	p.Lys204Asn	missense variant	-	NC_000003.12:g.52230068C>A	ESP,ExAC,TOPMed,gnomAD
rs1431485097	p.Leu207Ile	missense variant	-	NC_000003.12:g.52230061G>T	TOPMed
rs1275091257	p.Glu208Ter	stop gained	-	NC_000003.12:g.52230058C>A	gnomAD
rs745702183	p.Arg209Gly	missense variant	-	NC_000003.12:g.52230055G>C	ExAC,TOPMed,gnomAD
rs550294256	p.Arg209Gln	missense variant	-	NC_000003.12:g.52230054C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745702183	p.Arg209Trp	missense variant	-	NC_000003.12:g.52230055G>A	ExAC,TOPMed,gnomAD
rs550294256	p.Arg209Leu	missense variant	-	NC_000003.12:g.52230054C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1240933958	p.Ile212Val	missense variant	-	NC_000003.12:g.52230046T>C	gnomAD
rs536744957	p.Thr217Ala	missense variant	-	NC_000003.12:g.52230031T>C	1000Genomes,ExAC,gnomAD
rs757837329	p.Thr217Ile	missense variant	-	NC_000003.12:g.52230030G>A	ExAC
rs760488571	p.Glu218Asp	missense variant	-	NC_000003.12:g.52230026C>G	ExAC,gnomAD
rs754372150	p.Glu218Gly	missense variant	-	NC_000003.12:g.52230027T>C	ExAC,gnomAD
rs1384873031	p.Thr220Met	missense variant	-	NC_000003.12:g.52230021G>A	gnomAD
rs756619059	p.Asp221Val	missense variant	-	NC_000003.12:g.52230018T>A	ExAC,TOPMed,gnomAD
rs750791166	p.Val222Met	missense variant	-	NC_000003.12:g.52230016C>T	ExAC,TOPMed,gnomAD
rs1381264887	p.Ala223Thr	missense variant	-	NC_000003.12:g.52230013C>T	gnomAD
rs374151672	p.Ala223Val	missense variant	-	NC_000003.12:g.52230012G>A	ESP,ExAC,TOPMed,gnomAD
rs761995490	p.Gln224Ter	stop gained	-	NC_000003.12:g.52230010G>A	ExAC,gnomAD
rs764305121	p.Pro226Ser	missense variant	-	NC_000003.12:g.52230004G>A	ExAC,TOPMed,gnomAD
rs1477022569	p.Ser227Cys	missense variant	-	NC_000003.12:g.52230000G>C	TOPMed
rs970028838	p.Arg228Trp	missense variant	-	NC_000003.12:g.52229998G>A	TOPMed
rs769661628	p.Arg228Leu	missense variant	-	NC_000003.12:g.52229997C>A	ExAC,TOPMed,gnomAD
rs769661628	p.Arg228Gln	missense variant	-	NC_000003.12:g.52229997C>T	ExAC,TOPMed,gnomAD
rs759514349	p.Pro230Ser	missense variant	-	NC_000003.12:g.52229992G>A	ExAC,gnomAD
rs770701962	p.Arg231Gln	missense variant	-	NC_000003.12:g.52229988C>T	ExAC,TOPMed,gnomAD
rs999721192	p.Arg235Cys	missense variant	-	NC_000003.12:g.52229977G>A	TOPMed,gnomAD
rs1360202184	p.Arg235His	missense variant	-	NC_000003.12:g.52229976C>T	TOPMed
rs777364207	p.Phe238Cys	missense variant	-	NC_000003.12:g.52229967A>C	ExAC,gnomAD
rs1316879083	p.Leu240Phe	missense variant	-	NC_000003.12:g.52229962G>A	gnomAD
rs747703945	p.Tyr241Cys	missense variant	-	NC_000003.12:g.52229958T>C	ExAC,TOPMed,gnomAD
rs1427543347	p.Thr244Ile	missense variant	-	NC_000003.12:g.52229949G>A	gnomAD
rs1173327930	p.Gly247Ser	missense variant	-	NC_000003.12:g.52229941C>T	gnomAD
rs547826086	p.Asp248Asn	missense variant	-	NC_000003.12:g.52229938C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781419320	p.Pro249Ala	missense variant	-	NC_000003.12:g.52229935G>C	ExAC,TOPMed,gnomAD
rs781419320	p.Pro249Ser	missense variant	-	NC_000003.12:g.52229935G>A	ExAC,TOPMed,gnomAD
rs114956852	p.Leu250Phe	missense variant	-	NC_000003.12:g.52229932G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764462777	p.Ser252Phe	missense variant	-	NC_000003.12:g.52229925G>A	ExAC,gnomAD
rs1349564312	p.Val253Ile	missense variant	-	NC_000003.12:g.52229923C>T	TOPMed
rs763239264	p.Val253Ala	missense variant	-	NC_000003.12:g.52229922A>G	ExAC,gnomAD
rs1280867419	p.Val254Ala	missense variant	-	NC_000003.12:g.52229782A>G	TOPMed
rs985943479	p.Ile256Val	missense variant	-	NC_000003.12:g.52229777T>C	TOPMed,gnomAD
rs985943479	p.Ile256Phe	missense variant	-	NC_000003.12:g.52229777T>A	TOPMed,gnomAD
rs765236477	p.Ser258Cys	missense variant	-	NC_000003.12:g.52229770G>C	ExAC,gnomAD
rs1441845433	p.Met259Ile	missense variant	-	NC_000003.12:g.52229766C>A	gnomAD
rs753740098	p.Pro260Leu	missense variant	-	NC_000003.12:g.52229764G>A	ExAC,gnomAD
rs755045431	p.Pro260Thr	missense variant	-	NC_000003.12:g.52229765G>T	ExAC,TOPMed,gnomAD
rs1393775004	p.Tyr262Asn	missense variant	-	NC_000003.12:g.52229759A>T	gnomAD
rs1469803915	p.Ser265Asn	missense variant	-	NC_000003.12:g.52229749C>T	TOPMed
rs773055657	p.Ile266Val	missense variant	-	NC_000003.12:g.52229747T>C	ExAC,gnomAD
rs767283869	p.Glu268Lys	missense variant	-	NC_000003.12:g.52229741C>T	ExAC,gnomAD
rs761464663	p.Arg269Ter	stop gained	-	NC_000003.12:g.52229738G>A	ExAC,gnomAD
rs761464663	p.Arg269Gly	missense variant	-	NC_000003.12:g.52229738G>C	ExAC,gnomAD
rs1234517996	p.Leu271Arg	missense variant	-	NC_000003.12:g.52229731A>C	gnomAD
rs773983527	p.Ser277Thr	missense variant	-	NC_000003.12:g.52229713C>G	ExAC,gnomAD
rs377753240	p.Arg278His	missense variant	-	NC_000003.12:g.52229710C>T	ESP,ExAC,gnomAD
rs768077176	p.Arg278Cys	missense variant	-	NC_000003.12:g.52229711G>A	ExAC,TOPMed,gnomAD
rs774834547	p.Leu279Arg	missense variant	-	NC_000003.12:g.52229707A>C	ExAC,gnomAD
rs1212434012	p.Leu280Ile	missense variant	-	NC_000003.12:g.52229705G>T	gnomAD
rs778298315	p.Asp281Asn	missense variant	-	NC_000003.12:g.52229702C>T	ExAC,gnomAD
rs778298315	p.Asp281Tyr	missense variant	-	NC_000003.12:g.52229702C>A	ExAC,gnomAD
rs748412790	p.Val283Met	missense variant	-	NC_000003.12:g.52229696C>T	ExAC,gnomAD
rs1022503863	p.Glu284Gly	missense variant	-	NC_000003.12:g.52229692T>C	gnomAD
rs1447752276	p.Phe287Leu	missense variant	-	NC_000003.12:g.52229682G>C	gnomAD
rs1366874935	p.His288Asn	missense variant	-	NC_000003.12:g.52229681G>T	TOPMed
rs147578749	p.His288Arg	missense variant	-	NC_000003.12:g.52229680T>C	ESP,TOPMed
rs773855153	p.Ala292Thr	missense variant	-	NC_000003.12:g.52229669C>T	ExAC,TOPMed,gnomAD
rs773855153	p.Ala292Ser	missense variant	-	NC_000003.12:g.52229669C>A	ExAC,TOPMed,gnomAD
rs1350402849	p.Lys294Asn	missense variant	-	NC_000003.12:g.52229661T>G	gnomAD
rs141176698	p.Ile295Thr	missense variant	-	NC_000003.12:g.52229200A>G	ESP,ExAC,TOPMed,gnomAD
rs910416866	p.Ile297Thr	missense variant	-	NC_000003.12:g.52229194A>G	TOPMed
rs757554430	p.Asp299His	missense variant	-	NC_000003.12:g.52229189C>G	ExAC,TOPMed,gnomAD
rs768841701	p.Asp299Gly	missense variant	-	NC_000003.12:g.52229188T>C	ExAC,gnomAD
rs757554430	p.Asp299Asn	missense variant	-	NC_000003.12:g.52229189C>T	ExAC,TOPMed,gnomAD
rs1353478332	p.Glu302Lys	missense variant	-	NC_000003.12:g.52229180C>T	gnomAD
rs780205713	p.Glu302Gly	missense variant	-	NC_000003.12:g.52229179T>C	ExAC,gnomAD
rs751974151	p.Thr304Met	missense variant	-	NC_000003.12:g.52229173G>A	ExAC,TOPMed,gnomAD
rs1194970927	p.Ala305Thr	missense variant	-	NC_000003.12:g.52229171C>T	gnomAD
rs781247855	p.Tyr309Asp	missense variant	-	NC_000003.12:g.52229159A>C	ExAC,gnomAD
rs1483697650	p.Asp310Asn	missense variant	-	NC_000003.12:g.52229156C>T	TOPMed,gnomAD
rs758088169	p.Glu311Ala	missense variant	-	NC_000003.12:g.52229152T>G	ExAC,TOPMed,gnomAD
rs758088169	p.Glu311Gly	missense variant	-	NC_000003.12:g.52229152T>C	ExAC,TOPMed,gnomAD
rs777630618	p.Glu311Lys	missense variant	-	NC_000003.12:g.52229153C>T	ExAC
rs139604047	p.Val312Met	missense variant	-	NC_000003.12:g.52229150C>T	ESP,ExAC,TOPMed,gnomAD
COSM4118970	p.His313Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52229147G>T	NCI-TCGA Cosmic
rs759231820	p.His313Tyr	missense variant	-	NC_000003.12:g.52229147G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro314Arg	missense variant	-	NC_000003.12:g.52229143G>C	NCI-TCGA
rs1170950787	p.His317Leu	missense variant	-	NC_000003.12:g.52229134T>A	TOPMed
rs199609796	p.Ala318Thr	missense variant	-	NC_000003.12:g.52229132C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769092327	p.Phe319Ile	missense variant	-	NC_000003.12:g.52229129A>T	ExAC,gnomAD
rs563925974	p.Phe319Leu	missense variant	-	NC_000003.12:g.52229127G>C	1000Genomes
rs763175474	p.Lys320Met	missense variant	-	NC_000003.12:g.52229125T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln321Ter	stop gained	-	NC_000003.12:g.52229123G>A	NCI-TCGA
rs775804839	p.Ala322Pro	missense variant	-	NC_000003.12:g.52229120C>G	ExAC,TOPMed,gnomAD
rs775804839	p.Ala322Thr	missense variant	-	NC_000003.12:g.52229120C>T	ExAC,TOPMed,gnomAD
rs146346029	p.Ala324Pro	missense variant	-	NC_000003.12:g.52229114C>G	ESP,ExAC,TOPMed,gnomAD
rs146346029	p.Ala324Thr	missense variant	-	NC_000003.12:g.52229114C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys327Asn	missense variant	-	NC_000003.12:g.52229103C>A	NCI-TCGA
rs770850774	p.Gly330Arg	missense variant	-	NC_000003.12:g.52229096C>G	ExAC,gnomAD
rs1250103876	p.Arg333Gln	missense variant	-	NC_000003.12:g.52229086C>T	gnomAD
rs1361922183	p.Arg333Trp	missense variant	-	NC_000003.12:g.52229087G>A	TOPMed
rs747001066	p.Gly334Val	missense variant	-	NC_000003.12:g.52229083C>A	ExAC,gnomAD
rs1176955582	p.Gly334Ser	missense variant	-	NC_000003.12:g.52229084C>T	gnomAD
rs375566784	p.His335Arg	missense variant	-	NC_000003.12:g.52229080T>C	ESP,ExAC,gnomAD
rs1024011775	p.His335Tyr	missense variant	-	NC_000003.12:g.52229081G>A	TOPMed,gnomAD
rs766590581	p.Lys336Arg	missense variant	-	NC_000003.12:g.52229077T>C	ExAC,TOPMed,gnomAD
rs778846446	p.Arg340His	missense variant	-	NC_000003.12:g.52229065C>T	ExAC,TOPMed,gnomAD
rs747995759	p.Arg340Cys	missense variant	-	NC_000003.12:g.52229066G>A	ExAC,TOPMed,gnomAD
rs753481915	p.Gly341Cys	missense variant	-	NC_000003.12:g.52229063C>A	ExAC,TOPMed,gnomAD
rs753481915	p.Gly341Ser	missense variant	-	NC_000003.12:g.52229063C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly341Ala	missense variant	-	NC_000003.12:g.52229062C>G	NCI-TCGA
rs765914663	p.Pro342Leu	missense variant	-	NC_000003.12:g.52229059G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro342Ser	missense variant	-	NC_000003.12:g.52229060G>A	NCI-TCGA
rs1324627334	p.Gly343Val	missense variant	-	NC_000003.12:g.52229056C>A	gnomAD
rs764551812	p.Asn345Ser	missense variant	-	NC_000003.12:g.52229050T>C	ExAC,TOPMed,gnomAD
rs1295749049	p.Asp348Asn	missense variant	-	NC_000003.12:g.52229042C>T	gnomAD
rs1028237121	p.Ser349Ile	missense variant	-	NC_000003.12:g.52229038C>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0036341	Schizophrenia	disease	GWASCAT
C1510586	Autism Spectrum Disorders	disease	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0003785	actin monomer binding	ISS
GO:0003785	actin monomer binding	IBA
GO:0005080	protein kinase C binding	IPI
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IDA
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0045296	cadherin binding	HDA
GO:0051015	actin filament binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0010591	regulation of lamellipodium assembly	IBA
GO:0010592	positive regulation of lamellipodium assembly	IMP
GO:0010976	positive regulation of neuron projection development	IMP
GO:0010976	positive regulation of neuron projection development	IBA
GO:0030030	cell projection organization	IEA
GO:0030042	actin filament depolymerization	IBA
GO:0030837	negative regulation of actin filament polymerization	ISS
GO:0032532	regulation of microvillus length	IC
GO:0032956	regulation of actin cytoskeleton organization	IMP
GO:0042989	sequestering of actin monomers	ISS
GO:0042989	sequestering of actin monomers	IBA
GO:0045773	positive regulation of axon extension	IMP
GO:0051016	barbed-end actin filament capping	ISS
GO:0051016	barbed-end actin filament capping	IBA
GO:0071300	cellular response to retinoic acid	IMP
GO:0071363	cellular response to growth factor stimulus	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005737	cytoplasm	NAS
GO:0005737	cytoplasm	IBA
GO:0005737	cytoplasm	IDA
GO:0005884	actin filament	IBA
GO:0030016	myofibril	ISS
GO:0030016	myofibril	IBA
GO:0030027	lamellipodium	ISS
GO:0030175	filopodium	ISS
GO:0030426	growth cone	IDA
GO:0032420	stereocilium	ISS
GO:0048471	perinuclear region of cytoplasm	ISS
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of TWF2 mRNA	31388691
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of TWF2 mRNA	20406850
C496492	abrine	abrine results in decreased expression of TWF2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of TWF2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of TWF2 mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of TWF2 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TWF2 mRNA]	17585979
D020106	Acrylamide	Acrylamide affects the expression of TWF2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of TWF2 mRNA	21641981; 22100608;
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of TWF2 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TWF2 mRNA	21632981
C044887	beta-methylcholine	beta-methylcholine affects the expression of TWF2 mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of TWF2 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of TWF2 mRNA	30245210
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TWF2 mRNA	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of TWF2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of TWF2 mRNA	27392435; 27594783;
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of TWF2 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TWF2 mRNA]	17585979
D003300	Copper	Copper results in decreased expression of TWF2 mRNA	26293553
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of TWF2 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of TWF2 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of TWF2 mRNA	25562108
D003993	Dibutyl Phthalate	[Dibutyl Phthalate co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of TWF2 protein	30218697
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TWF2 mRNA	21266533
D004026	Dieldrin	Dieldrin results in increased expression of TWF2 mRNA	20438755
D004317	Doxorubicin	Doxorubicin results in decreased expression of TWF2 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of TWF2 mRNA	29391264
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of TWF2 protein	23301498
D004958	Estradiol	Estradiol affects the expression of TWF2 mRNA	14699072
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of TWF2 mRNA	23129252
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TWF2 mRNA	20938992
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of TWF2 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of TWF2 mRNA	27392435
D008628	Mercury	Mercury results in decreased expression of TWF2 mRNA	16823088
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TWF2 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of TWF2 protein	27012723
D009538	Nicotine	Nicotine results in decreased expression of TWF2 mRNA	17997037
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of TWF2 mRNA	20188158
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of TWF2 mRNA	20971185
C006253	pirinixic acid	NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of TWF2 mRNA]	17950772
C006253	pirinixic acid	pirinixic acid results in decreased expression of TWF2 mRNA	17950772; 25270620;
C006253	pirinixic acid	pirinixic acid results in increased expression of TWF2 mRNA	23811191
D011374	Progesterone	Progesterone results in increased expression of TWF2 mRNA	23012394
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of TWF2 mRNA	14699072
D000077185	Resveratrol	Resveratrol results in increased expression of TWF2 mRNA	25905778
D012402	Rotenone	Rotenone results in increased expression of TWF2 mRNA	28374803
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of TWF2 protein	28918527
C061133	tamibarotene	tamibarotene affects the expression of TWF2 mRNA	15498508
D013629	Tamoxifen	Tamoxifen affects the expression of TWF2 mRNA	14699072
C004648	testosterone enanthate	testosterone enanthate affects the expression of TWF2 mRNA	17440010
D013755	Tetradecanoylphorbol Acetate	[Dibutyl Phthalate co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of TWF2 protein	30218697
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of TWF2 protein	30291989
D014212	Tretinoin	Tretinoin results in increased expression of TWF2 mRNA	15498508
C029297	vinylidene chloride	vinylidene chloride results in increased expression of TWF2 mRNA	26682919
D024483	Vitamin K 3	Vitamin K 3 results in decreased expression of TWF2 mRNA	25270620

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0009	Actin-binding
KW-0966	Cell projection
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0903	Direct protein sequencing
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR002108	ADF-H
IPR029006	ADF-H/Gelsolin-like_dom_sf
IPR028458	Twinfilin

PROSITE

PROSITE ID	PROSITE Term
PS51263	ADF_H

Pfam

Pfam ID	Pfam Term
PF00241	Cofilin_ADF

Gene: TWF2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction