CleftGeneDB-Search

Gene: FOXF2

Basic information

Tag	Content
Uniprot ID	Q12947; Q5TGJ1; Q9UQ85;
Entrez ID	2295
Genbank protein ID	AAC32226.1; EAW55072.1; AAD19875.1;
Genbank nucleotide ID	NM_001452.1
Ensembl protein ID	ENSP00000496415
Ensembl nucleotide ID	ENSG00000137273
Gene name	Forkhead box protein F2
Gene symbol	FOXF2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26278207
Functional description	Probable transcription activator for a number of lung-specific genes (PubMed:8626802). Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1 (PubMed:29374064).
Sequence	MTTEGGPPPA PLRRACSPVP GALQAALMSP PPAAAAAAAA APETTSSSSS SSSASCASSS 60 SSSNSASAPS AACKSAGGGG AGAGSGGAKK ASSGLRRPEK PPYSYIALIV MAIQSSPSKR 120 LTLSEIYQFL QARFPFFRGA YQGWKNSVRH NLSLNECFIK LPKGLGRPGK GHYWTIDPAS 180 EFMFEEGSFR RRPRGFRRKC QALKPMYHRV VSGLGFGASL LPQGFDFQAP PSAPLGCHSQ 240 GGYGGLDMMP AGYDAGAGAP SHAHPHHHHH HHVPHMSPNP GSTYMASCPV PAGPGGVGAA 300 GGGGGGDYGP DSSSSPVPSS PAMASAIECH SPYTSPAAHW SSPGASPYLK QPPALTPSSN 360 PAASAGLHSS MSSYSLEQSY LHQNAREDLS VGLPRYQHHS TPVCDRKDFV LNFNGISSFH 420 PSASGSYYHH HHQSVCQDIK PCVM 444

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FOXF2	106503520	A0A452FDA0			Capra hircus	Prediction	More>>
1:1 ortholog	FOXF2	2295	Q12947			Homo sapiens	Publication	More>>
1:1 ortholog	Foxf2	14238	O54743	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	FOXF2	750558	H2R7P3			Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXF2		A0A287BDS9			Sus scrofa	Prediction	More>>
1:1 ortholog	FOXF2		G1TU67			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	foxf2a		F1QHL6			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FOXF2	rs1711968	Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test	26278207
FOXF2	rs732835	Single Nucleotide Polymorphism Selection; DNA; and Genotyping; Allelic transmission disequilibrium test	26278207

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1366299873	p.Glu4Gln	missense variant	-	NC_000006.12:g.1389957G>C	TOPMed,gnomAD
rs1366299873	p.Glu4Lys	missense variant	-	NC_000006.12:g.1389957G>A	TOPMed,gnomAD
rs951001033	p.Gly5Ser	missense variant	-	NC_000006.12:g.1389960G>A	TOPMed
rs1236608519	p.Gly6Arg	missense variant	-	NC_000006.12:g.1389963G>C	TOPMed
rs1306253696	p.Pro7Thr	missense variant	-	NC_000006.12:g.1389966C>A	gnomAD
rs1342030506	p.Arg13His	missense variant	-	NC_000006.12:g.1389985G>A	gnomAD
rs1217540703	p.Arg14His	missense variant	-	NC_000006.12:g.1389988G>A	TOPMed,gnomAD
rs1248973502	p.Ala15Ser	missense variant	-	NC_000006.12:g.1389990G>T	gnomAD
rs1189009649	p.Cys16Arg	missense variant	-	NC_000006.12:g.1389993T>C	gnomAD
rs1315993952	p.Cys16Phe	missense variant	-	NC_000006.12:g.1389994G>T	TOPMed
rs939048280	p.Pro18Leu	missense variant	-	NC_000006.12:g.1390000C>T	TOPMed
rs927643069	p.Pro18Ser	missense variant	-	NC_000006.12:g.1389999C>T	TOPMed,gnomAD
rs939048280	p.Pro18Arg	missense variant	-	NC_000006.12:g.1390000C>G	TOPMed
rs1385833913	p.Pro20Ser	missense variant	-	NC_000006.12:g.1390005C>T	TOPMed,gnomAD
rs1408338769	p.Gly21Ser	missense variant	-	NC_000006.12:g.1390008G>A	TOPMed
rs1408338769	p.Gly21Arg	missense variant	-	NC_000006.12:g.1390008G>C	TOPMed
rs990944119	p.Gly21Asp	missense variant	-	NC_000006.12:g.1390009G>A	TOPMed,gnomAD
rs1172986588	p.Ala22Thr	missense variant	-	NC_000006.12:g.1390011G>A	TOPMed
rs916338466	p.Ala25Gly	missense variant	-	NC_000006.12:g.1390021C>G	TOPMed,gnomAD
rs1377217421	p.Ala26Val	missense variant	-	NC_000006.12:g.1390024C>T	TOPMed,gnomAD
rs1316162278	p.Pro30Gln	missense variant	-	NC_000006.12:g.1390036C>A	gnomAD
rs1243149072	p.Pro31Gln	missense variant	-	NC_000006.12:g.1390039C>A	TOPMed
rs1226763139	p.Pro32Leu	missense variant	-	NC_000006.12:g.1390042C>T	gnomAD
rs1482054990	p.Ala37Thr	missense variant	-	NC_000006.12:g.1390056G>A	gnomAD
rs1183438097	p.Ala38Thr	missense variant	-	NC_000006.12:g.1390059G>A	gnomAD
rs1240095468	p.Ala39Val	missense variant	-	NC_000006.12:g.1390063C>T	TOPMed,gnomAD
rs1243463177	p.Ala39Thr	missense variant	-	NC_000006.12:g.1390062G>A	TOPMed,gnomAD
rs1163121584	p.Ala40Pro	missense variant	-	NC_000006.12:g.1390065G>C	TOPMed
rs778501522	p.Ala41Thr	missense variant	-	NC_000006.12:g.1390068G>A	ExAC,TOPMed,gnomAD
rs778501522	p.Ala41Ser	missense variant	-	NC_000006.12:g.1390068G>T	ExAC,TOPMed,gnomAD
rs890426090	p.Ala41Val	missense variant	-	NC_000006.12:g.1390069C>T	TOPMed,gnomAD
rs1244710115	p.Pro42Arg	missense variant	-	NC_000006.12:g.1390072C>G	TOPMed
rs771555576	p.Pro42Ser	missense variant	-	NC_000006.12:g.1390071C>T	ExAC,TOPMed
rs1175409141	p.Glu43Lys	missense variant	-	NC_000006.12:g.1390074G>A	TOPMed,gnomAD
rs900625813	p.Glu43Gly	missense variant	-	NC_000006.12:g.1390075A>G	TOPMed,gnomAD
rs1467764105	p.Glu43Asp	missense variant	-	NC_000006.12:g.1390076G>T	gnomAD
rs1175409141	p.Glu43Gln	missense variant	-	NC_000006.12:g.1390074G>C	TOPMed,gnomAD
rs1300388694	p.Ser48Cys	missense variant	-	NC_000006.12:g.1390090C>G	gnomAD
rs770346297	p.Ser50Leu	missense variant	-	NC_000006.12:g.1390096C>T	ExAC,TOPMed,gnomAD
rs1365776037	p.Ser51Pro	missense variant	-	NC_000006.12:g.1390098T>C	TOPMed
rs1417518898	p.Ser52Phe	missense variant	-	NC_000006.12:g.1390102C>T	TOPMed
rs1263559682	p.Ala57Val	missense variant	-	NC_000006.12:g.1390117C>T	gnomAD
rs1222098625	p.Ala57Thr	missense variant	-	NC_000006.12:g.1390116G>A	TOPMed
rs1490467102	p.Ser59Pro	missense variant	-	NC_000006.12:g.1390122T>C	TOPMed
rs1249862709	p.Ser60Leu	missense variant	-	NC_000006.12:g.1390126C>T	TOPMed,gnomAD
rs1475697083	p.Ser63Phe	missense variant	-	NC_000006.12:g.1390135C>T	TOPMed,gnomAD
rs763444640	p.Asn64Ser	missense variant	-	NC_000006.12:g.1390138A>G	ExAC,TOPMed,gnomAD
rs1312117808	p.Ser65Ala	missense variant	-	NC_000006.12:g.1390140T>G	TOPMed
rs1423083000	p.Ala66Thr	missense variant	-	NC_000006.12:g.1390143G>A	TOPMed,gnomAD
rs773094257	p.Ser67Cys	missense variant	-	NC_000006.12:g.1390146A>T	ExAC,TOPMed,gnomAD
rs1411723054	p.Ala68Ser	missense variant	-	NC_000006.12:g.1390149G>T	TOPMed,gnomAD
rs374633411	p.Ala68Val	missense variant	-	NC_000006.12:g.1390150C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374633411	p.Ala68Gly	missense variant	-	NC_000006.12:g.1390150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1346381007	p.Pro69His	missense variant	-	NC_000006.12:g.1390153C>A	gnomAD
rs1322938028	p.Pro69Ser	missense variant	-	NC_000006.12:g.1390152C>T	gnomAD
rs1292435341	p.Ser70Ala	missense variant	-	NC_000006.12:g.1390155T>G	gnomAD
rs1364823583	p.Cys73Trp	missense variant	-	NC_000006.12:g.1390166C>G	gnomAD
rs1397687135	p.Lys74Arg	missense variant	-	NC_000006.12:g.1390168A>G	TOPMed
rs767494112	p.Ser75Arg	missense variant	-	NC_000006.12:g.1390172C>G	ExAC,TOPMed,gnomAD
rs767494112	p.Ser75Arg	missense variant	-	NC_000006.12:g.1390172C>A	ExAC,TOPMed,gnomAD
rs564550058	p.Ser75Asn	missense variant	-	NC_000006.12:g.1390171G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs935167708	p.Ala81Pro	missense variant	-	NC_000006.12:g.1390188G>C	TOPMed,gnomAD
rs1245090174	p.Gly82Ser	missense variant	-	NC_000006.12:g.1390191G>A	gnomAD
rs764119941	p.Gly84Arg	missense variant	-	NC_000006.12:g.1390197G>A	ExAC,gnomAD
rs1411560832	p.Ser85Arg	missense variant	-	NC_000006.12:g.1390202C>G	gnomAD
rs1051419177	p.Gly87Asp	missense variant	-	NC_000006.12:g.1390207G>A	TOPMed,gnomAD
rs72667003	p.Ala88Thr	missense variant	-	NC_000006.12:g.1390209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261376361	p.Lys90Thr	missense variant	-	NC_000006.12:g.1390216A>C	TOPMed
rs1482994445	p.Lys90Glu	missense variant	-	NC_000006.12:g.1390215A>G	TOPMed
rs778734453	p.Lys90Asn	missense variant	-	NC_000006.12:g.1390217G>T	ExAC,TOPMed,gnomAD
rs778734453	p.Lys90Asn	missense variant	-	NC_000006.12:g.1390217G>C	ExAC,TOPMed,gnomAD
rs1379841105	p.Ala91Val	missense variant	-	NC_000006.12:g.1390219C>T	gnomAD
rs1406285175	p.Ser92Asn	missense variant	-	NC_000006.12:g.1390222G>A	gnomAD
rs758050275	p.Ser93Leu	missense variant	-	NC_000006.12:g.1390225C>T	ExAC,TOPMed,gnomAD
rs1303223823	p.Ser93Pro	missense variant	-	NC_000006.12:g.1390224T>C	gnomAD
rs758050275	p.Ser93Trp	missense variant	-	NC_000006.12:g.1390225C>G	ExAC,TOPMed,gnomAD
rs1351080863	p.Leu95Arg	missense variant	-	NC_000006.12:g.1390231T>G	gnomAD
rs1227693674	p.Arg96Leu	missense variant	-	NC_000006.12:g.1390234G>T	gnomAD
rs770161700	p.Pro98Ser	missense variant	-	NC_000006.12:g.1390239C>T	ExAC,gnomAD
rs1338134340	p.Lys100Arg	missense variant	-	NC_000006.12:g.1390246A>G	TOPMed
rs1283978023	p.Pro102Ala	missense variant	-	NC_000006.12:g.1390251C>G	gnomAD
rs1482198112	p.Pro102Leu	missense variant	-	NC_000006.12:g.1390252C>T	gnomAD
rs1470198689	p.Ile106Val	missense variant	-	NC_000006.12:g.1390263A>G	TOPMed
rs1027713266	p.Ser115Asn	missense variant	-	NC_000006.12:g.1390291G>A	TOPMed
rs775388948	p.Pro117Ser	missense variant	-	NC_000006.12:g.1390296C>T	ExAC,gnomAD
rs764126554	p.Arg120Cys	missense variant	-	NC_000006.12:g.1390305C>T	ExAC,gnomAD
rs1197513535	p.Tyr127Cys	missense variant	-	NC_000006.12:g.1390327A>G	gnomAD
rs764942770	p.Gln131Lys	missense variant	-	NC_000006.12:g.1390338C>A	ExAC,gnomAD
rs757938718	p.Ala132Glu	missense variant	-	NC_000006.12:g.1390342C>A	ExAC,TOPMed,gnomAD
rs757938718	p.Ala132Gly	missense variant	-	NC_000006.12:g.1390342C>G	ExAC,TOPMed,gnomAD
rs201914560	p.Ala132Thr	missense variant	-	NC_000006.12:g.1390341G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757938718	p.Ala132Val	missense variant	-	NC_000006.12:g.1390342C>T	ExAC,TOPMed,gnomAD
rs1188443270	p.Phe136Leu	missense variant	-	NC_000006.12:g.1390355C>G	gnomAD
rs754490997	p.Phe136Tyr	missense variant	-	NC_000006.12:g.1390354T>A	ExAC,gnomAD
rs1316515876	p.Gly139Ser	missense variant	-	NC_000006.12:g.1390362G>A	TOPMed
rs1169116418	p.Gln142Arg	missense variant	-	NC_000006.12:g.1390372A>G	gnomAD
rs779367418	p.Gly143Cys	missense variant	-	NC_000006.12:g.1390374G>T	ExAC,gnomAD
rs1413545187	p.Ser147Thr	missense variant	-	NC_000006.12:g.1390386T>A	gnomAD
rs775754407	p.Asn155Ile	missense variant	-	NC_000006.12:g.1390411A>T	ExAC,gnomAD
rs1229791635	p.Glu156Asp	missense variant	-	NC_000006.12:g.1390415G>C	gnomAD
rs1344594693	p.Ile159Val	missense variant	-	NC_000006.12:g.1390422A>G	TOPMed,gnomAD
rs1265424814	p.Leu161Val	missense variant	-	NC_000006.12:g.1390428C>G	gnomAD
rs776695372	p.Pro162Ser	missense variant	-	NC_000006.12:g.1390431C>T	ExAC,gnomAD
rs1449234862	p.Lys163Arg	missense variant	-	NC_000006.12:g.1390435A>G	gnomAD
rs765180772	p.Gly164Cys	missense variant	-	NC_000006.12:g.1390437G>T	ExAC,TOPMed,gnomAD
rs1173749640	p.Pro168Leu	missense variant	-	NC_000006.12:g.1390450C>T	gnomAD
rs1383690197	p.Pro168Thr	missense variant	-	NC_000006.12:g.1390449C>A	TOPMed
rs139305490	p.Gly169Ser	missense variant	-	NC_000006.12:g.1390452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1386432336	p.His172Arg	missense variant	-	NC_000006.12:g.1390462A>G	gnomAD
rs1386432336	p.His172Leu	missense variant	-	NC_000006.12:g.1390462A>T	gnomAD
rs1231368617	p.Trp174Cys	missense variant	-	NC_000006.12:g.1390469G>T	gnomAD
rs1330551923	p.Trp174Leu	missense variant	-	NC_000006.12:g.1390468G>T	gnomAD
rs1285487547	p.Thr175Ser	missense variant	-	NC_000006.12:g.1390470A>T	gnomAD
rs1180240943	p.Asp177His	missense variant	-	NC_000006.12:g.1390476G>C	TOPMed
rs1266616076	p.Ser180Asn	missense variant	-	NC_000006.12:g.1390486G>A	gnomAD
rs1206173054	p.Phe182Leu	missense variant	-	NC_000006.12:g.1390491T>C	gnomAD
rs1450587124	p.Phe184Ser	missense variant	-	NC_000006.12:g.1390498T>C	gnomAD
rs1465290405	p.Glu185Ala	missense variant	-	NC_000006.12:g.1390501A>C	TOPMed,gnomAD
rs923696923	p.Gly187Ser	missense variant	-	NC_000006.12:g.1390506G>A	TOPMed
rs752272028	p.Phe189Leu	missense variant	-	NC_000006.12:g.1390514C>G	ExAC,gnomAD
rs1361778079	p.Arg190Cys	missense variant	-	NC_000006.12:g.1390515C>T	gnomAD
rs1455309506	p.Arg190Leu	missense variant	-	NC_000006.12:g.1390516G>T	gnomAD
rs1159027740	p.Arg191His	missense variant	-	NC_000006.12:g.1390519G>A	gnomAD
rs1168702424	p.Arg194Ser	missense variant	-	NC_000006.12:g.1390527C>A	TOPMed,gnomAD
rs1346457542	p.Lys199Gln	missense variant	-	NC_000006.12:g.1390542A>C	gnomAD
rs1286856082	p.Cys200Phe	missense variant	-	NC_000006.12:g.1390546G>T	TOPMed,gnomAD
rs1286856082	p.Cys200Tyr	missense variant	-	NC_000006.12:g.1390546G>A	TOPMed,gnomAD
rs1319068605	p.Gln201Leu	missense variant	-	NC_000006.12:g.1390549A>T	gnomAD
rs1240176314	p.Ala202Thr	missense variant	-	NC_000006.12:g.1390551G>A	gnomAD
rs1354848937	p.Leu203Ile	missense variant	-	NC_000006.12:g.1390554C>A	gnomAD
rs1180951960	p.Met206Ile	missense variant	-	NC_000006.12:g.1390565G>A	gnomAD
rs758774206	p.Met206Leu	missense variant	-	NC_000006.12:g.1390563A>T	ExAC,gnomAD
rs747187038	p.Met206Thr	missense variant	-	NC_000006.12:g.1390564T>C	ExAC,TOPMed,gnomAD
rs747187038	p.Met206Arg	missense variant	-	NC_000006.12:g.1390564T>G	ExAC,TOPMed,gnomAD
rs758774206	p.Met206Leu	missense variant	-	NC_000006.12:g.1390563A>C	ExAC,gnomAD
rs776642543	p.Arg209Gly	missense variant	-	NC_000006.12:g.1390572C>G	ExAC,TOPMed,gnomAD
rs776642543	p.Arg209Ser	missense variant	-	NC_000006.12:g.1390572C>A	ExAC,TOPMed,gnomAD
rs748256575	p.Val210Met	missense variant	-	NC_000006.12:g.1390575G>A	ExAC,TOPMed,gnomAD
rs748256575	p.Val210Leu	missense variant	-	NC_000006.12:g.1390575G>T	ExAC,TOPMed,gnomAD
rs1422654240	p.Val211Met	missense variant	-	NC_000006.12:g.1390578G>A	gnomAD
rs1366202928	p.Ser212Arg	missense variant	-	NC_000006.12:g.1390583C>A	TOPMed,gnomAD
rs1165568399	p.Ser212Asn	missense variant	-	NC_000006.12:g.1390582G>A	TOPMed,gnomAD
rs769901978	p.Gly213Asp	missense variant	-	NC_000006.12:g.1390585G>A	ExAC,TOPMed,gnomAD
rs769901978	p.Gly213Ala	missense variant	-	NC_000006.12:g.1390585G>C	ExAC,TOPMed,gnomAD
rs1392397921	p.Gly217Arg	missense variant	-	NC_000006.12:g.1390596G>A	gnomAD
rs762858189	p.Ala218Thr	missense variant	-	NC_000006.12:g.1390599G>A	ExAC,TOPMed,gnomAD
rs1381241235	p.Ala218Glu	missense variant	-	NC_000006.12:g.1390600C>A	gnomAD
rs762858189	p.Ala218Pro	missense variant	-	NC_000006.12:g.1390599G>C	ExAC,TOPMed,gnomAD
rs762858189	p.Ala218Ser	missense variant	-	NC_000006.12:g.1390599G>T	ExAC,TOPMed,gnomAD
rs1203785383	p.Pro222Thr	missense variant	-	NC_000006.12:g.1390611C>A	gnomAD
rs1249302159	p.Gly224Asp	missense variant	-	NC_000006.12:g.1390618G>A	TOPMed,gnomAD
rs1249302159	p.Gly224Val	missense variant	-	NC_000006.12:g.1390618G>T	TOPMed,gnomAD
rs759172368	p.Ala229Glu	missense variant	-	NC_000006.12:g.1390633C>A	ExAC,TOPMed,gnomAD
rs759172368	p.Ala229Gly	missense variant	-	NC_000006.12:g.1390633C>G	ExAC,TOPMed,gnomAD
rs1255152811	p.Ala229Thr	missense variant	-	NC_000006.12:g.1390632G>A	gnomAD
rs1448979553	p.Pro230Leu	missense variant	-	NC_000006.12:g.1390636C>T	gnomAD
rs567798985	p.Pro230Ser	missense variant	-	NC_000006.12:g.1390635C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760235899	p.Pro231Leu	missense variant	-	NC_000006.12:g.1390639C>T	ExAC,gnomAD
rs1294268272	p.Ser232Trp	missense variant	-	NC_000006.12:g.1390642C>G	gnomAD
rs1294268272	p.Ser232Leu	missense variant	-	NC_000006.12:g.1390642C>T	gnomAD
rs886525649	p.Ala233Glu	missense variant	-	NC_000006.12:g.1390645C>A	TOPMed
rs1049098009	p.Ala233Thr	missense variant	-	NC_000006.12:g.1390644G>A	TOPMed
rs199884034	p.Pro234Thr	missense variant	-	NC_000006.12:g.1390647C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780406929	p.Cys237Tyr	missense variant	-	NC_000006.12:g.1390657G>A	ExAC,TOPMed,gnomAD
rs755152441	p.His238Asn	missense variant	-	NC_000006.12:g.1390659C>A	ExAC,gnomAD
rs1308907938	p.Ser239Gly	missense variant	-	NC_000006.12:g.1390662A>G	gnomAD
rs1227618963	p.Ser239Arg	missense variant	-	NC_000006.12:g.1390664C>G	gnomAD
rs1040644970	p.Gly242Val	missense variant	-	NC_000006.12:g.1390672G>T	TOPMed
rs1459777664	p.Gly242Cys	missense variant	-	NC_000006.12:g.1390671G>T	gnomAD
rs1196328719	p.Tyr243Asn	missense variant	-	NC_000006.12:g.1390674T>A	gnomAD
rs1243741752	p.Tyr243Ter	stop gained	-	NC_000006.12:g.1390675dup	gnomAD
rs896713826	p.Gly244Arg	missense variant	-	NC_000006.12:g.1390677G>C	TOPMed
rs1464374409	p.Leu246Ile	missense variant	-	NC_000006.12:g.1390683C>A	gnomAD
rs1200674901	p.Leu246His	missense variant	-	NC_000006.12:g.1390684T>A	TOPMed
rs1277883043	p.Asp247Glu	missense variant	-	NC_000006.12:g.1390688C>A	TOPMed,gnomAD
rs1184867249	p.Met248Leu	missense variant	-	NC_000006.12:g.1390689A>T	gnomAD
rs1012478738	p.Met249Thr	missense variant	-	NC_000006.12:g.1390693T>C	TOPMed,gnomAD
rs1421656539	p.Met249Leu	missense variant	-	NC_000006.12:g.1390692A>T	gnomAD
rs1447031654	p.Ala251Pro	missense variant	-	NC_000006.12:g.1390698G>C	TOPMed
rs1027794350	p.Gly252Cys	missense variant	-	NC_000006.12:g.1390701G>T	TOPMed
rs1027794350	p.Gly252Ser	missense variant	-	NC_000006.12:g.1390701G>A	TOPMed
rs1325600534	p.Asp254Glu	missense variant	-	NC_000006.12:g.1390709C>A	TOPMed
rs1023908627	p.Ala255Thr	missense variant	-	NC_000006.12:g.1390710G>A	TOPMed
rs1005703101	p.Ala257Thr	missense variant	-	NC_000006.12:g.1390716G>A	TOPMed,gnomAD
rs748419763	p.Gly258Asp	missense variant	-	NC_000006.12:g.1390720G>A	ExAC,TOPMed,gnomAD
rs769850882	p.Ala259Asp	missense variant	-	NC_000006.12:g.1390723C>A	ExAC,gnomAD
rs961332909	p.Ser261Arg	missense variant	-	NC_000006.12:g.1390730C>A	TOPMed
rs1286620196	p.His262Tyr	missense variant	-	NC_000006.12:g.1390731C>T	gnomAD
rs777783638	p.Ala263Val	missense variant	-	NC_000006.12:g.1390735C>T	ExAC
rs1363404609	p.His264Tyr	missense variant	-	NC_000006.12:g.1390737C>T	gnomAD
rs969920347	p.His266Asn	missense variant	-	NC_000006.12:g.1390743C>A	TOPMed
rs1282299944	p.His268Tyr	missense variant	-	NC_000006.12:g.1390749C>T	gnomAD
rs570065652	p.His271Arg	missense variant	-	NC_000006.12:g.1390759A>G	ExAC,TOPMed,gnomAD
rs1191705892	p.His272Asp	missense variant	-	NC_000006.12:g.1390761C>G	gnomAD
rs919848863	p.Val273Leu	missense variant	-	NC_000006.12:g.1390764G>C	TOPMed,gnomAD
rs1316271903	p.His275Tyr	missense variant	-	NC_000006.12:g.1390770C>T	TOPMed,gnomAD
rs935877865	p.Met276Lys	missense variant	-	NC_000006.12:g.1390774T>A	TOPMed,gnomAD
rs935877865	p.Met276Arg	missense variant	-	NC_000006.12:g.1390774T>G	TOPMed,gnomAD
rs1216479990	p.Met276Leu	missense variant	-	NC_000006.12:g.1390773A>T	TOPMed
rs1243938081	p.Met276Ile	missense variant	-	NC_000006.12:g.1390775G>A	gnomAD
rs747109983	p.Pro278Arg	missense variant	-	NC_000006.12:g.1390780C>G	TOPMed
rs747109983	p.Pro278His	missense variant	-	NC_000006.12:g.1390780C>A	TOPMed
rs756284004	p.Pro278Ser	missense variant	-	NC_000006.12:g.1390779C>T	TOPMed,gnomAD
rs944789166	p.Pro280Leu	missense variant	-	NC_000006.12:g.1390786C>T	TOPMed
rs1442162454	p.Pro280Ser	missense variant	-	NC_000006.12:g.1390785C>T	TOPMed
rs1384292974	p.Gly281Val	missense variant	-	NC_000006.12:g.1390789G>T	TOPMed
rs907956437	p.Gly281Ser	missense variant	-	NC_000006.12:g.1390788G>A	TOPMed,gnomAD
rs1040363407	p.Thr283Asn	missense variant	-	NC_000006.12:g.1390795C>A	TOPMed
rs1445979559	p.Met285Val	missense variant	-	NC_000006.12:g.1390800A>G	TOPMed
rs1243241641	p.Ala286Val	missense variant	-	NC_000006.12:g.1390804C>T	TOPMed
rs1176509309	p.Ser287Asn	missense variant	-	NC_000006.12:g.1390807G>A	TOPMed
rs770789563	p.Val290Met	missense variant	-	NC_000006.12:g.1390815G>A	ExAC,gnomAD
rs1161854825	p.Pro291Ser	missense variant	-	NC_000006.12:g.1390818C>T	gnomAD
rs868209723	p.Ala292Thr	missense variant	-	NC_000006.12:g.1390821G>A	gnomAD
rs1438577780	p.Gly293Arg	missense variant	-	NC_000006.12:g.1390824G>A	TOPMed
rs1343267788	p.Gly296Asp	missense variant	-	NC_000006.12:g.1390834G>A	gnomAD
rs932195449	p.Ala299Thr	missense variant	-	NC_000006.12:g.1390842G>A	TOPMed,gnomAD
rs759285624	p.Ala299Val	missense variant	-	NC_000006.12:g.1390843C>T	ExAC,gnomAD
rs759285624	p.Ala299Glu	missense variant	-	NC_000006.12:g.1390843C>A	ExAC,gnomAD
RCV000190285	p.Ala300Gly	missense variant	-	NC_000006.12:g.1390846C>G	ClinVar
rs587777898	p.Ala300Gly	missense variant	-	NC_000006.12:g.1390846C>G	-
rs1286306706	p.Ala300Ser	missense variant	-	NC_000006.12:g.1390845G>T	gnomAD
rs772037115	p.Gly302Ser	missense variant	-	NC_000006.12:g.1390851G>A	ExAC,gnomAD
rs1289612903	p.Gly303Ser	missense variant	-	NC_000006.12:g.1390854G>A	TOPMed,gnomAD
rs1468973102	p.Asp307Gly	missense variant	-	NC_000006.12:g.1390867A>G	gnomAD
rs1012838111	p.Asp307Asn	missense variant	-	NC_000006.12:g.1390866G>A	TOPMed,gnomAD
rs1179291891	p.Tyr308Asp	missense variant	-	NC_000006.12:g.1390869T>G	gnomAD
rs1405225983	p.Gly309Arg	missense variant	-	NC_000006.12:g.1390872G>A	gnomAD
rs1162378472	p.Gly309Ala	missense variant	-	NC_000006.12:g.1390873G>C	gnomAD
rs775264769	p.Pro310Ser	missense variant	-	NC_000006.12:g.1390875C>T	ExAC,gnomAD
rs1353528957	p.Asp311Asn	missense variant	-	NC_000006.12:g.1390878G>A	TOPMed,gnomAD
rs1353528957	p.Asp311His	missense variant	-	NC_000006.12:g.1390878G>C	TOPMed,gnomAD
rs1399023862	p.Ser313Asn	missense variant	-	NC_000006.12:g.1390885G>A	gnomAD
rs760468619	p.Ser313Gly	missense variant	-	NC_000006.12:g.1390884A>G	ExAC,gnomAD
rs1049362749	p.Ser314Arg	missense variant	-	NC_000006.12:g.1390889C>A	TOPMed,gnomAD
rs1000527471	p.Ser319Leu	missense variant	-	NC_000006.12:g.1390903C>T	TOPMed
rs1272619762	p.Pro321Leu	missense variant	-	NC_000006.12:g.1390909C>T	gnomAD
rs1223294050	p.Pro321Ser	missense variant	-	NC_000006.12:g.1390908C>T	gnomAD
rs1436290669	p.Met323Val	missense variant	-	NC_000006.12:g.1390914A>G	gnomAD
rs1207076399	p.Ala324Ser	missense variant	-	NC_000006.12:g.1390917G>T	gnomAD
rs753299126	p.Ala324Glu	missense variant	-	NC_000006.12:g.1390918C>A	ExAC,TOPMed,gnomAD
rs1207076399	p.Ala324Pro	missense variant	-	NC_000006.12:g.1390917G>C	gnomAD
rs766825658	p.Ser325Arg	missense variant	-	NC_000006.12:g.1390922C>G	ExAC,TOPMed,gnomAD
rs1387604207	p.Ser331Leu	missense variant	-	NC_000006.12:g.1390939C>T	gnomAD
rs752146693	p.Pro332Leu	missense variant	-	NC_000006.12:g.1390942C>T	ExAC,gnomAD
rs1266101315	p.Thr334Met	missense variant	-	NC_000006.12:g.1390948C>T	TOPMed
rs1395399878	p.Ala337Glu	missense variant	-	NC_000006.12:g.1390957C>A	gnomAD
rs1395399878	p.Ala337Val	missense variant	-	NC_000006.12:g.1390957C>T	gnomAD
rs1407799854	p.Ala338Thr	missense variant	-	NC_000006.12:g.1390959G>A	TOPMed,gnomAD
rs1330645178	p.Ala338Val	missense variant	-	NC_000006.12:g.1390960C>T	gnomAD
rs1334673260	p.Ser342Leu	missense variant	-	NC_000006.12:g.1390972C>T	gnomAD
rs752913667	p.Pro343Leu	missense variant	-	NC_000006.12:g.1390975C>T	ExAC,TOPMed,gnomAD
rs1246894016	p.Gly344Asp	missense variant	-	NC_000006.12:g.1390978G>A	gnomAD
rs777853676	p.Ala345Ser	missense variant	-	NC_000006.12:g.1390980G>T	ExAC,gnomAD
rs1216504833	p.Ser346Leu	missense variant	-	NC_000006.12:g.1390984C>T	TOPMed,gnomAD
rs1461182521	p.Pro347Leu	missense variant	-	NC_000006.12:g.1390987C>T	gnomAD
rs1245584057	p.Leu349Ile	missense variant	-	NC_000006.12:g.1390992C>A	gnomAD
rs778688042	p.Gln351Arg	missense variant	-	NC_000006.12:g.1390999A>G	ExAC,gnomAD
rs745854732	p.Pro352Ser	missense variant	-	NC_000006.12:g.1391001C>T	ExAC,gnomAD
rs745854732	p.Pro352Ala	missense variant	-	NC_000006.12:g.1391001C>G	ExAC,gnomAD
rs1474241073	p.Ala354Thr	missense variant	-	NC_000006.12:g.1391007G>A	gnomAD
rs775428059	p.Pro357Leu	missense variant	-	NC_000006.12:g.1391017C>T	ExAC,gnomAD
rs771984198	p.Pro357Ser	missense variant	-	NC_000006.12:g.1391016C>T	ExAC,gnomAD
rs760343821	p.Pro361Thr	missense variant	-	NC_000006.12:g.1391028C>A	ExAC,TOPMed,gnomAD
rs760343821	p.Pro361Ser	missense variant	-	NC_000006.12:g.1391028C>T	ExAC,TOPMed,gnomAD
rs1317756945	p.Pro361Leu	missense variant	-	NC_000006.12:g.1391029C>T	gnomAD
rs1317756945	p.Pro361His	missense variant	-	NC_000006.12:g.1391029C>A	gnomAD
rs776165112	p.Ala362Thr	missense variant	-	NC_000006.12:g.1391031G>A	ExAC,TOPMed,gnomAD
rs1271032233	p.Ala362Asp	missense variant	-	NC_000006.12:g.1391032C>A	gnomAD
rs1222127764	p.Ser364Leu	missense variant	-	NC_000006.12:g.1391038C>T	TOPMed,gnomAD
rs761196442	p.Ala365Thr	missense variant	-	NC_000006.12:g.1391040G>A	ExAC,gnomAD
rs761196442	p.Ala365Ser	missense variant	-	NC_000006.12:g.1391040G>T	ExAC,gnomAD
rs1324892741	p.Ala365Glu	missense variant	-	NC_000006.12:g.1391041C>A	TOPMed,gnomAD
rs1324892741	p.Ala365Val	missense variant	-	NC_000006.12:g.1391041C>T	TOPMed,gnomAD
rs764851838	p.Gly366Val	missense variant	-	NC_000006.12:g.1391044G>T	ExAC,gnomAD
rs764851838	p.Gly366Ala	missense variant	-	NC_000006.12:g.1391044G>C	ExAC,gnomAD
rs1260464215	p.Leu367Pro	missense variant	-	NC_000006.12:g.1391047T>C	TOPMed,gnomAD
rs199606504	p.Ser369Cys	missense variant	-	NC_000006.12:g.1391053C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1209830099	p.Met371Lys	missense variant	-	NC_000006.12:g.1391059T>A	TOPMed
rs767804919	p.Tyr374Ser	missense variant	-	NC_000006.12:g.1391068A>C	ExAC,gnomAD
rs753075213	p.Ser375Leu	missense variant	-	NC_000006.12:g.1391071C>T	ExAC,gnomAD
rs1261643986	p.Leu376Gln	missense variant	-	NC_000006.12:g.1391074T>A	TOPMed
rs754133324	p.Gln378Arg	missense variant	-	NC_000006.12:g.1391080A>G	ExAC,gnomAD
rs757266625	p.Ser379Thr	missense variant	-	NC_000006.12:g.1391083G>C	ExAC,gnomAD
rs1345725822	p.His382Tyr	missense variant	-	NC_000006.12:g.1391091C>T	TOPMed
rs779111614	p.His382Pro	missense variant	-	NC_000006.12:g.1391092A>C	ExAC,gnomAD
rs11759800	p.Gln383His	missense variant	-	NC_000006.12:g.1391096G>C	TOPMed
rs1402589423	p.Asn384Ile	missense variant	-	NC_000006.12:g.1391098A>T	gnomAD
rs745729901	p.Ala385Pro	missense variant	-	NC_000006.12:g.1391100G>C	ExAC,TOPMed,gnomAD
rs1345129732	p.Arg386Cys	missense variant	-	NC_000006.12:g.1391103C>T	TOPMed,gnomAD
rs376820659	p.Arg386Pro	missense variant	-	NC_000006.12:g.1391104G>C	1000Genomes,ESP,ExAC,gnomAD
rs1345129732	p.Arg386Gly	missense variant	-	NC_000006.12:g.1391103C>G	TOPMed,gnomAD
rs150644359	p.Glu387Lys	missense variant	-	NC_000006.12:g.1391106G>A	ESP,ExAC,TOPMed,gnomAD
rs957430052	p.Glu387Gly	missense variant	-	NC_000006.12:g.1391107A>G	TOPMed,gnomAD
rs781108073	p.Gly392Glu	missense variant	-	NC_000006.12:g.1394699G>A	ExAC,gnomAD
rs747690002	p.Leu393Met	missense variant	-	NC_000006.12:g.1394701C>A	ExAC,TOPMed,gnomAD
rs770471912	p.Pro394Leu	missense variant	-	NC_000006.12:g.1394705C>T	ExAC,gnomAD
rs748830602	p.Pro394Thr	missense variant	-	NC_000006.12:g.1394704C>A	ExAC,TOPMed,gnomAD
rs774308907	p.Arg395Cys	missense variant	-	NC_000006.12:g.1394707C>T	ExAC,gnomAD
rs774308907	p.Arg395Gly	missense variant	-	NC_000006.12:g.1394707C>G	ExAC,gnomAD
rs768831466	p.Arg395His	missense variant	-	NC_000006.12:g.1394708G>A	ExAC,gnomAD
rs1325430249	p.Tyr396Ser	missense variant	-	NC_000006.12:g.1394711A>C	TOPMed
rs777063525	p.His398Arg	missense variant	-	NC_000006.12:g.1394717A>G	ExAC,gnomAD
rs761889267	p.His399Arg	missense variant	-	NC_000006.12:g.1394720A>G	ExAC,TOPMed,gnomAD
rs750712370	p.Ser400Cys	missense variant	-	NC_000006.12:g.1394723C>G	ExAC,gnomAD
rs763101553	p.Thr401Ser	missense variant	-	NC_000006.12:g.1394725A>T	ExAC,gnomAD
rs766623330	p.Pro402Ala	missense variant	-	NC_000006.12:g.1394728C>G	ExAC,TOPMed,gnomAD
rs987131710	p.Val403Ala	missense variant	-	NC_000006.12:g.1394732T>C	TOPMed
rs932983912	p.Val403Met	missense variant	-	NC_000006.12:g.1394731G>A	TOPMed
rs754949198	p.Asp405Glu	missense variant	-	NC_000006.12:g.1394739C>G	ExAC,TOPMed,gnomAD
rs754949198	p.Asp405Glu	missense variant	-	NC_000006.12:g.1394739C>A	ExAC,TOPMed,gnomAD
rs1249426683	p.Asp408Asn	missense variant	-	NC_000006.12:g.1394746G>A	gnomAD
rs752561435	p.Phe409Ser	missense variant	-	NC_000006.12:g.1394750T>C	ExAC,TOPMed,gnomAD
rs910289542	p.Val410Ile	missense variant	-	NC_000006.12:g.1394752G>A	TOPMed,gnomAD
rs1459917173	p.Leu411Val	missense variant	-	NC_000006.12:g.1394755C>G	gnomAD
rs777376635	p.Phe413Ser	missense variant	-	NC_000006.12:g.1394762T>C	ExAC,gnomAD
rs547033753	p.Asn414Ser	missense variant	-	NC_000006.12:g.1394765A>G	1000Genomes,ExAC,gnomAD
rs1469839544	p.Ile416Thr	missense variant	-	NC_000006.12:g.1394771T>C	gnomAD
rs1191337268	p.Ser417Tyr	missense variant	-	NC_000006.12:g.1394774C>A	TOPMed
rs1478832606	p.Ser418Pro	missense variant	-	NC_000006.12:g.1394776T>C	TOPMed
rs770418864	p.His420Tyr	missense variant	-	NC_000006.12:g.1394782C>T	ExAC,gnomAD
rs778395071	p.Ser422Ala	missense variant	-	NC_000006.12:g.1394788T>G	ExAC
rs745752775	p.SerAlaSer422SerAlaSerTerUnk	stop gained	-	NC_000006.12:g.1394796_1394797insTAGC	ExAC,TOPMed
rs61753348	p.Ser424Arg	missense variant	-	NC_000006.12:g.1394796C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1281365726	p.Gly425Glu	missense variant	-	NC_000006.12:g.1394798G>A	TOPMed
rs769225202	p.Gly425Arg	missense variant	-	NC_000006.12:g.1394797G>C	ExAC,TOPMed,gnomAD
rs769225202	p.Gly425Arg	missense variant	-	NC_000006.12:g.1394797G>A	ExAC,TOPMed,gnomAD
rs377282345	p.Ser426Leu	missense variant	-	NC_000006.12:g.1394801C>T	ESP,ExAC,TOPMed,gnomAD
rs377282345	p.Ser426Trp	missense variant	-	NC_000006.12:g.1394801C>G	ESP,ExAC,TOPMed,gnomAD
rs1201323082	p.SerTyrTyr426SerTyrTerTyrTyr	stop gained	-	NC_000006.12:g.1394802_1394807dup	TOPMed
rs141847147	p.Tyr427Cys	missense variant	-	NC_000006.12:g.1394804A>G	ESP,ExAC,TOPMed,gnomAD
rs2293783	p.Tyr428Ter	stop gained	-	NC_000006.12:g.1394808T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375909051	p.His430Pro	missense variant	-	NC_000006.12:g.1394813A>C	ESP,ExAC,TOPMed,gnomAD
rs375909051	p.His430Arg	missense variant	-	NC_000006.12:g.1394813A>G	ESP,ExAC,TOPMed,gnomAD
rs1379211897	p.His431Pro	missense variant	-	NC_000006.12:g.1394816A>C	TOPMed,gnomAD
rs370260507	p.Gln433Pro	missense variant	-	NC_000006.12:g.1394822A>C	ESP,ExAC,TOPMed,gnomAD
rs960251606	p.Gln433Lys	missense variant	-	NC_000006.12:g.1394821C>A	TOPMed,gnomAD
rs1319538642	p.Gln433His	missense variant	-	NC_000006.12:g.1394823G>C	gnomAD
rs960251606	p.Gln433Glu	missense variant	-	NC_000006.12:g.1394821C>G	TOPMed,gnomAD
rs142547284	p.Val435Leu	missense variant	-	NC_000006.12:g.1394827G>C	ESP,ExAC,TOPMed,gnomAD
rs755919173	p.Val435Ala	missense variant	-	NC_000006.12:g.1394828T>C	ExAC,TOPMed,gnomAD
rs755919173	p.Val435Asp	missense variant	-	NC_000006.12:g.1394828T>A	ExAC,TOPMed,gnomAD
rs142547284	p.Val435Ile	missense variant	-	NC_000006.12:g.1394827G>A	ESP,ExAC,TOPMed,gnomAD
rs1023535019	p.Pro441Ser	missense variant	-	NC_000006.12:g.1394845C>T	TOPMed
rs181428616	p.Val443Ile	missense variant	-	NC_000006.12:g.1394851G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745411238	p.Met444Leu	missense variant	-	NC_000006.12:g.1394854A>T	ExAC,TOPMed
rs771520920	p.Met444Ile	missense variant	-	NC_000006.12:g.1394856G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0018816	Heart Septal Defects	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0038454	Cerebrovascular accident	group	CTD_human
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0751956	Acute Cerebrovascular Accidents	disease	CTD_human
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3642347	Basal-Like Breast Carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP
GO:0003677	DNA binding	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0008134	transcription factor binding	IPI
GO:0043565	sequence-specific DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001837	epithelial to mesenchymal transition	NAS
GO:0030198	extracellular matrix organization	IEA
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA
GO:0042249	establishment of planar polarity of embryonic epithelium	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048566	embryonic digestive tract development	IEA
GO:0048596	embryonic camera-type eye morphogenesis	IEA
GO:0048806	genitalia development	IMP
GO:0060021	roof of mouth development	IMP
GO:1902914	regulation of protein polyubiquitination	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IC
GO:0005667	transcription factor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of FOXF2 mRNA	29038090
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FOXF2 mRNA	28628672
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of FOXF2 mRNA	28329830
C496492	abrine	abrine results in decreased expression of FOXF2 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FOXF2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of FOXF2 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of FOXF2 gene	28458013
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of FOXF2 intron	30157460
C015001	arsenite	arsenite results in increased methylation of FOXF2 promoter	23974009
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of FOXF2 mRNA	21148743
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to FOXF2 promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FOXF2 mRNA	21569818
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FOXF2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of FOXF2 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of FOXF2 mRNA	30951980
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FOXF2 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of FOXF2 mRNA	30951980
C584509	C646 compound	C646 compound results in decreased expression of FOXF2 mRNA	26191083
D002104	Cadmium	Cadmium results in increased expression of FOXF2 mRNA	24376830
D002117	Calcitriol	Calcitriol results in decreased expression of FOXF2 mRNA	26485663
D002330	Carmustine	FOXF2 mRNA affects the susceptibility to Carmustine	16365179
D002737	Chloroprene	Chloroprene results in decreased expression of FOXF2 mRNA	23125180
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of FOXF2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of FOXF2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of FOXF2 mRNA	19561079
D019327	Copper Sulfate	Copper Sulfate results in increased expression of FOXF2 mRNA	19549813
C030973	cupric oxide	cupric oxide results in decreased expression of FOXF2 mRNA	22077320
D003474	Curcumin	Curcumin results in decreased expression of FOXF2 mRNA	15713895
C017160	cypermethrin	cypermethrin results in decreased expression of FOXF2 mRNA	22528246
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FOXF2 mRNA	28628672
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FOXF2 mRNA	23129252
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of FOXF2 gene	16724327
D005047	Etoposide	FOXF2 protein affects the susceptibility to Etoposide	16217747
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of FOXF2 mRNA	28329830
D006861	Hydrogen Peroxide	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of FOXF2 protein	18951874
C492448	ICG 001	ICG 001 results in decreased expression of FOXF2 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FOXF2 mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of FOXF2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FOXF2 mRNA	24796395
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FOXF2 mRNA	28001369
D008942	Mitoxantrone	FOXF2 protein affects the susceptibility to Mitoxantrone	16217747
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of FOXF2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of FOXF2 mRNA	25554681
C029938	nickel sulfate	nickel sulfate results in increased expression of FOXF2 mRNA	22714537
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of FOXF2 mRNA	30529165
D012643	Selenium	Selenium results in decreased expression of FOXF2 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of FOXF2 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of FOXF2 mRNA	28595984
D053260	Soot	Soot results in decreased expression of FOXF2 mRNA	22461453; 26551751;
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of FOXF2 mRNA	31299295
D000077204	Temozolomide	FOXF2 mRNA affects the susceptibility to Temozolomide	16365179
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FOXF2 mRNA	20055451
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FOXF2 mRNA	29704546
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOXF2 mRNA	24058054; 26377647;
D013806	Theophylline	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of FOXF2 protein	18951874
C009495	titanium dioxide	titanium dioxide results in decreased expression of FOXF2 mRNA	29264374
C024746	tobacco tar	tobacco tar results in decreased expression of FOXF2 mRNA	19559774
D014260	Triclosan	Triclosan results in decreased expression of FOXF2 mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of FOXF2 mRNA	19042947
D014635	Valproic Acid	Valproic Acid affects the expression of FOXF2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased methylation of FOXF2 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of FOXF2 mRNA	17292431
D014810	Vitamin E	Vitamin E results in decreased expression of FOXF2 mRNA	19244175
D015032	Zinc	Zinc results in decreased expression of FOXF2 mRNA	19071009

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0238	DNA-binding
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR001766	Fork_head_dom
IPR018122	TF_fork_head_CS_1
IPR030456	TF_fork_head_CS_2
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00657	FORK_HEAD_1
PS00658	FORK_HEAD_2
PS50039	FORK_HEAD_3

Pfam

Pfam ID	Pfam Term
PF00250	Forkhead

Gene: FOXF2

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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