CleftGeneDB-Search

Gene: GBX2

Basic information

Tag	Content
Uniprot ID	P52951; B2RPH7; O43833; Q53RX5; Q9Y5Y1;
Entrez ID	2637
Genbank protein ID	EAW71084.1; AAC03241.1; AAI37450.1; AAX93240.1; AAI37449.1; AAA17406.1; AAD39907.1;
Genbank nucleotide ID	NM_001485.3
Ensembl protein ID	ENSP00000302251
Ensembl nucleotide ID	ENSG00000168505
Gene name	Homeobox protein GBX-2
Gene symbol	GBX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	May act as a transcription factor for cell pluripotency and differentiation in the embryo.
Sequence	MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP 60 PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE 120 AAAARKFAPQ PLPGGGNFDK AEALQADAED GKGFLAKEGS LLAFSAAETV QASLVGAVRG 180 QGKDESKVED DPKGKEESFS LESDVDYSSD DNLTGQAAHK EEDPGHALEE TPPSSGAAGS 240 TTSTGKNRRR RTAFTSEQLL ELEKEFHCKK YLSLTERSQI AHALKLSEVQ VKIWFQNRRA 300 KWKRVKAGNA NSKTGEPSRN PKIVVPIPVH VSRFAIRSQH QQLEQARP 348

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	Species	Evidence	Details
1:1 ortholog	GBX2	486174	E2RC01		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GBX2	102174804	A0A452EY65		Capra hircus	Prediction	More>>
1:1 ortholog	GBX2	2637	P52951		Homo sapiens	Prediction	More>>
1:1 ortholog	Gbx2	14472	P48031	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GBX2	470689	H2QJN8		Pan troglodytes	Prediction	More>>
1:1 ortholog	GBX2	100514608	F1SM11		Sus scrofa	Prediction	More>>
1:1 ortholog	GBX2	100353889	G1T4M0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Gbx2	114500	G3V8J6		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gbx2	245948	Q8QGU1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs760878054	p.Ser2Cys	missense variant	-	NC_000002.12:g.236167968T>A	ExAC,gnomAD
rs1233337399	p.Ala3Ser	missense variant	-	NC_000002.12:g.236167965C>A	gnomAD
rs773136458	p.Ala4Val	missense variant	-	NC_000002.12:g.236167961G>A	ExAC,TOPMed,gnomAD
rs1481931768	p.Phe5Ile	missense variant	-	NC_000002.12:g.236167959A>T	gnomAD
rs1282288740	p.Pro6Leu	missense variant	-	NC_000002.12:g.236167955G>A	gnomAD
rs1276073606	p.Pro7Leu	missense variant	-	NC_000002.12:g.236167952G>A	gnomAD
rs1311191426	p.Pro7Ser	missense variant	-	NC_000002.12:g.236167953G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser8Trp	missense variant	-	NC_000002.12:g.236167949G>C	NCI-TCGA
NCI-TCGA novel	p.Ser8Leu	missense variant	-	NC_000002.12:g.236167949G>A	NCI-TCGA
rs1373461505	p.Leu9Pro	missense variant	-	NC_000002.12:g.236167946A>G	gnomAD
rs1199509489	p.Met10Ile	missense variant	-	NC_000002.12:g.236167942C>T	TOPMed
rs772617387	p.Met10Thr	missense variant	-	NC_000002.12:g.236167943A>G	ExAC,gnomAD
rs1483409479	p.Met10Leu	missense variant	-	NC_000002.12:g.236167944T>G	TOPMed
rs1020353126	p.Met11Ile	missense variant	-	NC_000002.12:g.236167939C>T	TOPMed,gnomAD
rs762260558	p.Met11Thr	missense variant	-	NC_000002.12:g.236167940A>G	ExAC,TOPMed,gnomAD
rs1179210968	p.Met12Thr	missense variant	-	NC_000002.12:g.236167937A>G	TOPMed
rs774729235	p.Gln13His	missense variant	-	NC_000002.12:g.236167933C>A	ExAC,TOPMed,gnomAD
rs549692179	p.Pro15Ser	missense variant	-	NC_000002.12:g.236167929G>A	1000Genomes,ExAC,gnomAD
rs1379441211	p.Pro15Leu	missense variant	-	NC_000002.12:g.236167928G>A	TOPMed
rs749602609	p.Gly17Ala	missense variant	-	NC_000002.12:g.236167922C>G	ExAC,gnomAD
rs749602609	p.Gly17Glu	missense variant	-	NC_000002.12:g.236167922C>T	ExAC,gnomAD
rs1181360817	p.Ser18Arg	missense variant	-	NC_000002.12:g.236167918A>C	TOPMed,gnomAD
rs780962950	p.Ser18Thr	missense variant	-	NC_000002.12:g.236167919C>G	ExAC,gnomAD
rs1402499219	p.Ser18Cys	missense variant	-	NC_000002.12:g.236167920T>A	gnomAD
rs1302425906	p.Ser19Gly	missense variant	-	NC_000002.12:g.236167917T>C	TOPMed
rs1404370210	p.Ala21Thr	missense variant	-	NC_000002.12:g.236167911C>T	TOPMed
rs1449414111	p.Ala21Asp	missense variant	-	NC_000002.12:g.236167910G>T	TOPMed
rs1332661624	p.Phe22Leu	missense variant	-	NC_000002.12:g.236167906G>C	TOPMed
rs1376879250	p.Ser23Cys	missense variant	-	NC_000002.12:g.236167905T>A	TOPMed
rs1259547428	p.Ser23Asn	missense variant	-	NC_000002.12:g.236167904C>T	gnomAD
rs746575611	p.Ile24Thr	missense variant	-	NC_000002.12:g.236167901A>G	ExAC,gnomAD
rs1235340969	p.Asp25Glu	missense variant	-	NC_000002.12:g.236167897G>C	gnomAD
rs1217562638	p.Gly29Arg	missense variant	-	NC_000002.12:g.236167887C>G	gnomAD
rs1217562638	p.Gly29Cys	missense variant	-	NC_000002.12:g.236167887C>A	gnomAD
rs1316957163	p.Gly29Asp	missense variant	-	NC_000002.12:g.236167886C>T	gnomAD
rs1267000455	p.Ser30Arg	missense variant	-	NC_000002.12:g.236167882G>C	gnomAD
NCI-TCGA novel	p.Pro32Gln	missense variant	-	NC_000002.12:g.236167877G>T	NCI-TCGA
rs758437445	p.Gln33Pro	missense variant	-	NC_000002.12:g.236167874T>G	ExAC,gnomAD
rs778868716	p.Val40Asp	missense variant	-	NC_000002.12:g.236167853A>T	ExAC,TOPMed,gnomAD
rs778868716	p.Val40Ala	missense variant	-	NC_000002.12:g.236167853A>G	ExAC,TOPMed,gnomAD
rs753573351	p.Gly43Ser	missense variant	-	NC_000002.12:g.236167845C>T	ExAC,TOPMed,gnomAD
rs753573351	p.Gly43Arg	missense variant	-	NC_000002.12:g.236167845C>G	ExAC,TOPMed,gnomAD
rs368609531	p.Met46Leu	missense variant	-	NC_000002.12:g.236167836T>A	ESP,ExAC,TOPMed,gnomAD
rs368609531	p.Met46Val	missense variant	-	NC_000002.12:g.236167836T>C	ESP,ExAC,TOPMed,gnomAD
rs750539951	p.Pro49Ser	missense variant	-	NC_000002.12:g.236167827G>A	ExAC,gnomAD
rs935440715	p.Arg51Gly	missense variant	-	NC_000002.12:g.236167821G>C	TOPMed,gnomAD
rs902082239	p.Arg51Gln	missense variant	-	NC_000002.12:g.236167820C>T	TOPMed,gnomAD
rs1253868113	p.Pro56Leu	missense variant	-	NC_000002.12:g.236167805G>A	gnomAD
rs767545495	p.Pro60Leu	missense variant	-	NC_000002.12:g.236167793G>A	ExAC,TOPMed,gnomAD
rs1427403780	p.Pro61Thr	missense variant	-	NC_000002.12:g.236167791G>T	TOPMed
rs1247035538	p.Pro63Ser	missense variant	-	NC_000002.12:g.236167785G>A	gnomAD
rs774894969	p.Gln67His	missense variant	-	NC_000002.12:g.236167771C>G	ExAC,gnomAD
rs200404399	p.Ala69Ser	missense variant	-	NC_000002.12:g.236167767C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775693383	p.Pro72Leu	missense variant	-	NC_000002.12:g.236167757G>A	ExAC,gnomAD
rs770636546	p.Ala73Glu	missense variant	-	NC_000002.12:g.236167754G>T	ExAC,TOPMed,gnomAD
rs911938698	p.Pro75Leu	missense variant	-	NC_000002.12:g.236167748G>A	-
rs1355650612	p.Pro76Leu	missense variant	-	NC_000002.12:g.236167745G>A	TOPMed,gnomAD
rs1432932888	p.Ala77Thr	missense variant	-	NC_000002.12:g.236167743C>T	gnomAD
rs1396849040	p.Ala77Gly	missense variant	-	NC_000002.12:g.236167742G>C	TOPMed,gnomAD
rs987643540	p.His78Gln	missense variant	-	NC_000002.12:g.236167738G>T	TOPMed,gnomAD
rs777423025	p.His78Tyr	missense variant	-	NC_000002.12:g.236167740G>A	ExAC,gnomAD
rs1172178753	p.Ile83Val	missense variant	-	NC_000002.12:g.236167725T>C	gnomAD
rs1428927301	p.Ile83Thr	missense variant	-	NC_000002.12:g.236167724A>G	TOPMed,gnomAD
rs1389114331	p.Ile83Met	missense variant	-	NC_000002.12:g.236167723G>C	gnomAD
rs771654915	p.Pro84Ser	missense variant	-	NC_000002.12:g.236167722G>A	ExAC,gnomAD
rs1408530437	p.Ser85Cys	missense variant	-	NC_000002.12:g.236167719T>A	TOPMed
rs779063164	p.Leu86Val	missense variant	-	NC_000002.12:g.236167716G>C	ExAC,gnomAD
rs1210943297	p.Leu86Pro	missense variant	-	NC_000002.12:g.236167715A>G	gnomAD
rs1167553473	p.Pro87Ser	missense variant	-	NC_000002.12:g.236167713G>A	TOPMed
rs1488408570	p.Thr88Lys	missense variant	-	NC_000002.12:g.236167709G>T	gnomAD
COSM3579502	p.Gly89Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236167706C>T	NCI-TCGA Cosmic
rs754843031	p.Cys91Gly	missense variant	-	NC_000002.12:g.236167701A>C	ExAC,gnomAD
rs753718265	p.Ala95Val	missense variant	-	NC_000002.12:g.236167688G>A	ExAC,gnomAD
rs753718265	p.Ala95Glu	missense variant	-	NC_000002.12:g.236167688G>T	ExAC,gnomAD
rs779666496	p.Gln96Arg	missense variant	-	NC_000002.12:g.236167685T>C	ExAC,gnomAD
rs1226523241	p.Ala99Val	missense variant	-	NC_000002.12:g.236167676G>A	gnomAD
COSM4686580	p.Ala99Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236167677C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu100HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.236167672_236167673GA>-	NCI-TCGA
rs1386285435	p.Thr103Ala	missense variant	-	NC_000002.12:g.236167665T>C	gnomAD
rs1388433042	p.Thr103Met	missense variant	-	NC_000002.12:g.236167664G>A	gnomAD
rs750545044	p.Met105Thr	missense variant	-	NC_000002.12:g.236167658A>G	ExAC,TOPMed,gnomAD
rs767713130	p.Met105Ile	missense variant	-	NC_000002.12:g.236167657C>T	ExAC,TOPMed,gnomAD
rs1395323232	p.Pro109His	missense variant	-	NC_000002.12:g.236167646G>T	gnomAD
rs1455352279	p.Pro109Ser	missense variant	-	NC_000002.12:g.236167647G>A	gnomAD
rs368198659	p.Gly110Val	missense variant	-	NC_000002.12:g.236167643C>A	ESP,TOPMed
rs764631873	p.Phe112Leu	missense variant	-	NC_000002.12:g.236167638A>G	ExAC,TOPMed,gnomAD
rs763316927	p.Ser115Leu	missense variant	-	NC_000002.12:g.236167628G>A	ExAC,gnomAD
rs775950533	p.Pro116Ser	missense variant	-	NC_000002.12:g.236167626G>A	ExAC,gnomAD
rs760392642	p.Gln117His	missense variant	-	NC_000002.12:g.236167621C>A	ExAC,gnomAD
rs1203272949	p.Gln117Ter	stop gained	-	NC_000002.12:g.236167623G>A	gnomAD
rs760392642	p.Gln117His	missense variant	-	NC_000002.12:g.236167621C>G	ExAC,gnomAD
rs79285591	p.Glu120Asp	missense variant	-	NC_000002.12:g.236167612C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771849184	p.Ala121Thr	missense variant	-	NC_000002.12:g.236167611C>T	ExAC,TOPMed,gnomAD
rs747702977	p.Ala122Thr	missense variant	-	NC_000002.12:g.236167608C>T	ExAC,gnomAD
rs1410427695	p.Ala122Val	missense variant	-	NC_000002.12:g.236167607G>A	gnomAD
rs773978508	p.Ala123Thr	missense variant	-	NC_000002.12:g.236167605C>T	ExAC,gnomAD
rs1402423343	p.Arg125Gly	missense variant	-	NC_000002.12:g.236167599G>C	TOPMed,gnomAD
rs1290304096	p.Arg125Leu	missense variant	-	NC_000002.12:g.236167598C>A	TOPMed
rs749140948	p.Gln130Pro	missense variant	-	NC_000002.12:g.236167583T>G	ExAC,TOPMed
rs779903271	p.Pro131Ser	missense variant	-	NC_000002.12:g.236167581G>A	ExAC,gnomAD
rs781431098	p.Gly134Cys	missense variant	-	NC_000002.12:g.236167572C>A	ExAC,TOPMed,gnomAD
rs201041634	p.Gly135Val	missense variant	-	NC_000002.12:g.236167568C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757446664	p.Gly135Ser	missense variant	-	NC_000002.12:g.236167569C>T	ExAC,gnomAD
rs183456996	p.Gly136Arg	missense variant	-	NC_000002.12:g.236167566C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765764887	p.Phe138Leu	missense variant	-	NC_000002.12:g.236167558G>C	ExAC,TOPMed,gnomAD
rs765764887	p.Phe138Leu	missense variant	-	NC_000002.12:g.236167558G>T	ExAC,TOPMed,gnomAD
rs532488227	p.Asp139Asn	missense variant	-	NC_000002.12:g.236167557C>T	TOPMed,gnomAD
rs532488227	p.Asp139Tyr	missense variant	-	NC_000002.12:g.236167557C>A	TOPMed,gnomAD
rs777107943	p.Lys140Asn	missense variant	-	NC_000002.12:g.236167552C>G	ExAC,TOPMed,gnomAD
rs1286414760	p.Lys140Thr	missense variant	-	NC_000002.12:g.236167553T>G	TOPMed,gnomAD
rs149869981	p.Ala141Val	missense variant	-	NC_000002.12:g.236167550G>A	ESP,ExAC,TOPMed,gnomAD
rs149869981	p.Ala141Glu	missense variant	-	NC_000002.12:g.236167550G>T	ESP,ExAC,TOPMed,gnomAD
rs774031211	p.Ala143Thr	missense variant	-	NC_000002.12:g.236167545C>T	ExAC,TOPMed,gnomAD
rs767984966	p.Ala143Glu	missense variant	-	NC_000002.12:g.236167544G>T	ExAC,TOPMed,gnomAD
rs767984966	p.Ala143Val	missense variant	-	NC_000002.12:g.236167544G>A	ExAC,TOPMed,gnomAD
rs775356080	p.Ala146Pro	missense variant	-	NC_000002.12:g.236167536C>G	ExAC,gnomAD
rs769739341	p.Asp150Asn	missense variant	-	NC_000002.12:g.236167524C>T	ExAC,TOPMed,gnomAD
rs1411805510	p.Gly151Cys	missense variant	-	NC_000002.12:g.236167521C>A	gnomAD
rs561631097	p.Gly151Asp	missense variant	-	NC_000002.12:g.236167520C>T	1000Genomes,ExAC,gnomAD
rs780914439	p.Lys152Glu	missense variant	-	NC_000002.12:g.236167518T>C	ExAC,gnomAD
rs747164133	p.Gly153Ala	missense variant	-	NC_000002.12:g.236167514C>G	ExAC,TOPMed,gnomAD
rs747164133	p.Gly153Asp	missense variant	-	NC_000002.12:g.236167514C>T	ExAC,TOPMed,gnomAD
rs747164133	p.Gly153Val	missense variant	-	NC_000002.12:g.236167514C>A	ExAC,TOPMed,gnomAD
rs1355971926	p.Leu155Arg	missense variant	-	NC_000002.12:g.236167508A>C	TOPMed
rs758468823	p.Ala156Asp	missense variant	-	NC_000002.12:g.236167505G>T	ExAC,gnomAD
rs1264127873	p.Glu158Gly	missense variant	-	NC_000002.12:g.236167499T>C	gnomAD
rs1040586774	p.Ser160Pro	missense variant	-	NC_000002.12:g.236167494A>G	TOPMed
rs1445562651	p.Leu162Phe	missense variant	-	NC_000002.12:g.236167488G>A	TOPMed
NCI-TCGA novel	p.Ala163Thr	missense variant	-	NC_000002.12:g.236167485C>T	NCI-TCGA
rs752822897	p.Ala166Thr	missense variant	-	NC_000002.12:g.236167476C>T	ExAC,TOPMed,gnomAD
rs1464511371	p.Glu168Lys	missense variant	-	NC_000002.12:g.236167470C>T	gnomAD
rs886602875	p.Thr169Met	missense variant	-	NC_000002.12:g.236167466G>A	TOPMed,gnomAD
rs1400140073	p.Val170Leu	missense variant	-	NC_000002.12:g.236167464C>G	TOPMed,gnomAD
rs377437929	p.Gln171Arg	missense variant	-	NC_000002.12:g.236167460T>C	ESP,TOPMed,gnomAD
rs1320833304	p.Gln171Glu	missense variant	-	NC_000002.12:g.236167461G>C	gnomAD
NCI-TCGA novel	p.Gln171His	missense variant	-	NC_000002.12:g.236167459C>A	NCI-TCGA
rs1415881160	p.Ser173Leu	missense variant	-	NC_000002.12:g.236167454G>A	TOPMed
rs1162967845	p.Val175Phe	missense variant	-	NC_000002.12:g.236167449C>A	TOPMed,gnomAD
rs1415780615	p.Gly176Trp	missense variant	-	NC_000002.12:g.236166435C>A	gnomAD
rs1482692780	p.Val178Ala	missense variant	-	NC_000002.12:g.236166428A>G	gnomAD
rs780745297	p.Gly180Arg	missense variant	-	NC_000002.12:g.236166423C>T	ExAC,gnomAD
rs1045017434	p.Gly182Arg	missense variant	-	NC_000002.12:g.236166417C>G	TOPMed,gnomAD
rs1045017434	p.Gly182Arg	missense variant	-	NC_000002.12:g.236166417C>T	TOPMed,gnomAD
rs746239279	p.Ser186Pro	missense variant	-	NC_000002.12:g.236166405A>G	ExAC,gnomAD
COSM1018252	p.Lys187Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166400C>A	NCI-TCGA Cosmic
rs1228389880	p.Lys187Asn	missense variant	-	NC_000002.12:g.236166400C>G	gnomAD
rs1351683404	p.Val188Met	missense variant	-	NC_000002.12:g.236166399C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro192Leu	missense variant	-	NC_000002.12:g.236166386G>A	NCI-TCGA
rs752334404	p.Gly194Asp	missense variant	-	NC_000002.12:g.236166380C>T	ExAC,gnomAD
rs1362186557	p.Gly194Ser	missense variant	-	NC_000002.12:g.236166381C>T	TOPMed
rs764852601	p.Lys195Glu	missense variant	-	NC_000002.12:g.236166378T>C	ExAC,gnomAD
rs753318838	p.Glu196Gly	missense variant	-	NC_000002.12:g.236166374T>C	ExAC,gnomAD
rs753318838	p.Glu196Ala	missense variant	-	NC_000002.12:g.236166374T>G	ExAC,gnomAD
rs924320246	p.Glu197Lys	missense variant	-	NC_000002.12:g.236166372C>T	-
rs148159384	p.Ser200Pro	missense variant	-	NC_000002.12:g.236166363A>G	ESP,ExAC,gnomAD
rs1489758659	p.Asp204Asn	missense variant	-	NC_000002.12:g.236166351C>T	TOPMed
rs986640279	p.Val205Ala	missense variant	-	NC_000002.12:g.236166347A>G	TOPMed
rs1351561443	p.Ser208Arg	missense variant	-	NC_000002.12:g.236166337G>C	gnomAD
rs761956735	p.Ser209Pro	missense variant	-	NC_000002.12:g.236166336A>G	ExAC,gnomAD
rs774692890	p.Ser209Leu	missense variant	-	NC_000002.12:g.236166335G>A	ExAC
NCI-TCGA novel	p.Asn212His	missense variant	-	NC_000002.12:g.236166327T>G	NCI-TCGA
rs1190170059	p.Thr214Asn	missense variant	-	NC_000002.12:g.236166320G>T	gnomAD
NCI-TCGA novel	p.Thr214Ala	missense variant	-	NC_000002.12:g.236166321T>C	NCI-TCGA
rs749427581	p.Gly215Asp	missense variant	-	NC_000002.12:g.236166317C>T	ExAC,TOPMed,gnomAD
rs1190972736	p.Gly215Ser	missense variant	-	NC_000002.12:g.236166318C>T	TOPMed
rs921209289	p.Gln216Arg	missense variant	-	NC_000002.12:g.236166314T>C	TOPMed
rs1485139387	p.Ala218Gly	missense variant	-	NC_000002.12:g.236166308G>C	gnomAD
rs1384677744	p.His219Tyr	missense variant	-	NC_000002.12:g.236166306G>A	TOPMed
rs143663937	p.Glu222Ala	missense variant	-	NC_000002.12:g.236166296T>G	ESP,ExAC,gnomAD
rs746318204	p.Glu222Asp	missense variant	-	NC_000002.12:g.236166295T>G	ExAC,TOPMed,gnomAD
rs781421148	p.Pro224Thr	missense variant	-	NC_000002.12:g.236166291G>T	ExAC,gnomAD
rs757696070	p.Pro224Gln	missense variant	-	NC_000002.12:g.236166290G>T	ExAC,gnomAD
COSM4092603	p.Gly225Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166287C>A	NCI-TCGA Cosmic
rs1230975400	p.His226Gln	missense variant	-	NC_000002.12:g.236166283G>T	TOPMed,gnomAD
rs778580912	p.Ala227Thr	missense variant	-	NC_000002.12:g.236166282C>T	ExAC,gnomAD
rs202152349	p.Glu229Lys	missense variant	-	NC_000002.12:g.236166276C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202152349	p.Glu229Gln	missense variant	-	NC_000002.12:g.236166276C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1294069868	p.Pro232Gln	missense variant	-	NC_000002.12:g.236166266G>T	TOPMed,gnomAD
rs1294069868	p.Pro232Arg	missense variant	-	NC_000002.12:g.236166266G>C	TOPMed,gnomAD
rs373486610	p.Ser234Thr	missense variant	-	NC_000002.12:g.236166260C>G	ESP,ExAC,TOPMed,gnomAD
rs113681406	p.Ser235Arg	missense variant	-	NC_000002.12:g.236166256G>T	gnomAD
rs767344478	p.Ser235Asn	missense variant	-	NC_000002.12:g.236166257C>T	ExAC,gnomAD
rs1389171569	p.Gly236Cys	missense variant	-	NC_000002.12:g.236166255C>A	gnomAD
rs1389171569	p.Gly236Ser	missense variant	-	NC_000002.12:g.236166255C>T	gnomAD
rs201674356	p.Ala237Thr	missense variant	-	NC_000002.12:g.236166252C>T	ESP,ExAC,TOPMed,gnomAD
rs764433841	p.Ala237Val	missense variant	-	NC_000002.12:g.236166251G>A	ExAC,TOPMed,gnomAD
rs201674356	p.Ala237Pro	missense variant	-	NC_000002.12:g.236166252C>G	ESP,ExAC,TOPMed,gnomAD
rs763225082	p.Ala238Val	missense variant	-	NC_000002.12:g.236166248G>A	ExAC,TOPMed,gnomAD
rs1356567525	p.Ala238Thr	missense variant	-	NC_000002.12:g.236166249C>T	TOPMed
rs763225082	p.Ala238Gly	missense variant	-	NC_000002.12:g.236166248G>C	ExAC,TOPMed,gnomAD
rs1349464821	p.Ser240Asn	missense variant	-	NC_000002.12:g.236166242C>T	TOPMed
rs769851621	p.Thr242Lys	missense variant	-	NC_000002.12:g.236166236G>T	ExAC,TOPMed,gnomAD
rs745919266	p.Ser243Cys	missense variant	-	NC_000002.12:g.236166233G>C	ExAC,gnomAD
rs200791522	p.Thr244Met	missense variant	-	NC_000002.12:g.236166230G>A	1000Genomes,gnomAD
rs1314058386	p.Gly245Ser	missense variant	-	NC_000002.12:g.236166228C>T	gnomAD
rs771308424	p.Lys246Arg	missense variant	-	NC_000002.12:g.236166224T>C	ExAC,TOPMed,gnomAD
rs747458810	p.Arg249Trp	missense variant	-	NC_000002.12:g.236166216G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg250Trp	missense variant	-	NC_000002.12:g.236166213G>A	NCI-TCGA
rs1410235422	p.Arg251Trp	missense variant	-	NC_000002.12:g.236166210G>A	gnomAD
rs1369515441	p.Arg251Leu	missense variant	-	NC_000002.12:g.236166209C>A	gnomAD
COSM3798783	p.Phe254Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166199G>T	NCI-TCGA Cosmic
rs1467112182	p.Glu257Lys	missense variant	-	NC_000002.12:g.236166192C>T	gnomAD
NCI-TCGA novel	p.Gln258His	missense variant	-	NC_000002.12:g.236166187C>A	NCI-TCGA
COSM1326316	p.Leu259Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166186G>C	NCI-TCGA Cosmic
rs988304642	p.Leu260Val	missense variant	-	NC_000002.12:g.236166183G>C	TOPMed
NCI-TCGA novel	p.Glu261Gln	missense variant	-	NC_000002.12:g.236166180C>G	NCI-TCGA
COSM1018251	p.Glu263Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166172C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu265Gln	missense variant	-	NC_000002.12:g.236166168C>G	NCI-TCGA
NCI-TCGA novel	p.Phe266Leu	missense variant	-	NC_000002.12:g.236166163G>C	NCI-TCGA
rs866290647	p.Glu276Gln	missense variant	-	NC_000002.12:g.236166135C>G	TOPMed
rs755708214	p.Glu276Gly	missense variant	-	NC_000002.12:g.236166134T>C	ExAC,gnomAD
rs866290647	p.Glu276Lys	missense variant	-	NC_000002.12:g.236166135C>T	TOPMed
rs749898317	p.Arg277Cys	missense variant	-	NC_000002.12:g.236166132G>A	ExAC,gnomAD
rs757092821	p.Gln279Glu	missense variant	-	NC_000002.12:g.236166126G>C	ExAC,gnomAD
rs1470596216	p.Gln279His	missense variant	-	NC_000002.12:g.236166124C>G	TOPMed
rs1256598505	p.Ile280Val	missense variant	-	NC_000002.12:g.236166123T>C	gnomAD
NCI-TCGA novel	p.Ala281Val	missense variant	-	NC_000002.12:g.236166119G>A	NCI-TCGA
NCI-TCGA novel	p.Ala281Thr	missense variant	-	NC_000002.12:g.236166120C>T	NCI-TCGA
rs1290173786	p.His282Gln	missense variant	-	NC_000002.12:g.236166115G>T	gnomAD
rs751429932	p.His282Arg	missense variant	-	NC_000002.12:g.236166116T>C	ExAC,gnomAD
COSM1195494	p.Ala283Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166114C>T	NCI-TCGA Cosmic
rs1228748450	p.Ala283Ser	missense variant	-	NC_000002.12:g.236166114C>A	gnomAD
rs763280325	p.Lys285Arg	missense variant	-	NC_000002.12:g.236166107T>C	ExAC,gnomAD
COSM1018249	p.Lys285Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166108T>C	NCI-TCGA Cosmic
rs537846896	p.Lys285Gln	missense variant	-	NC_000002.12:g.236166108T>G	1000Genomes,ExAC,gnomAD
rs369589992	p.Ser287Arg	missense variant	-	NC_000002.12:g.236166100G>C	ESP,ExAC,TOPMed,gnomAD
rs1402475845	p.Ser287Cys	missense variant	-	NC_000002.12:g.236166102T>A	gnomAD
NCI-TCGA novel	p.Glu288Ter	stop gained	-	NC_000002.12:g.236166099C>A	NCI-TCGA
NCI-TCGA novel	p.Val291Leu	missense variant	-	NC_000002.12:g.236166090C>A	NCI-TCGA
NCI-TCGA novel	p.Phe295Ser	missense variant	-	NC_000002.12:g.236166077A>G	NCI-TCGA
COSM1406510	p.Arg298Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.236166069G>A	NCI-TCGA Cosmic
rs1473108262	p.Val305Met	missense variant	-	NC_000002.12:g.236166048C>T	TOPMed,gnomAD
rs1307055131	p.Val305Gly	missense variant	-	NC_000002.12:g.236166047A>C	TOPMed
rs1444288072	p.Ala310Asp	missense variant	-	NC_000002.12:g.236166032G>T	gnomAD
rs773575219	p.Ala310Thr	missense variant	-	NC_000002.12:g.236166033C>T	ExAC,gnomAD
rs772366640	p.Asn311Ser	missense variant	-	NC_000002.12:g.236166029T>C	ExAC,TOPMed,gnomAD
rs1417677499	p.Asn311Lys	missense variant	-	NC_000002.12:g.236166028A>C	gnomAD
COSM3579501	p.Ser312Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166026G>A	NCI-TCGA Cosmic
rs1379451572	p.Thr314Ser	missense variant	-	NC_000002.12:g.236166021T>A	TOPMed,gnomAD
rs1054534852	p.Gly315Arg	missense variant	-	NC_000002.12:g.236166018C>T	-
NCI-TCGA novel	p.Gly315Glu	missense variant	-	NC_000002.12:g.236166017C>T	NCI-TCGA
COSM4828539	p.Glu316Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166015C>T	NCI-TCGA Cosmic
COSM1018248	p.Glu316Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166013C>A	NCI-TCGA Cosmic
rs1269921440	p.Glu316Asp	missense variant	-	NC_000002.12:g.236166013C>G	TOPMed,gnomAD
COSM6090925	p.Pro317His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166011G>T	NCI-TCGA Cosmic
rs1209344841	p.Arg319Gly	missense variant	-	NC_000002.12:g.236166006G>C	TOPMed,gnomAD
rs1481565243	p.Arg319Gln	missense variant	-	NC_000002.12:g.236166005C>T	TOPMed
NCI-TCGA novel	p.Asn320Lys	missense variant	-	NC_000002.12:g.236166001G>T	NCI-TCGA
rs374921067	p.Pro321His	missense variant	-	NC_000002.12:g.236165999G>T	ESP,ExAC,TOPMed,gnomAD
rs61743573	p.Val325Ile	missense variant	-	NC_000002.12:g.236165988C>T	ExAC,TOPMed,gnomAD
COSM1018247	p.His330Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236165973G>T	NCI-TCGA Cosmic
rs780526790	p.Ser332Arg	missense variant	-	NC_000002.12:g.236165965G>C	ExAC,TOPMed,gnomAD
rs757223307	p.Arg333Ser	missense variant	-	NC_000002.12:g.236165962C>A	ExAC,gnomAD
rs1357976813	p.Phe334Ile	missense variant	-	NC_000002.12:g.236165961A>T	TOPMed
rs1323118245	p.Ala335Thr	missense variant	-	NC_000002.12:g.236165958C>T	gnomAD
rs777837387	p.Ala335Val	missense variant	-	NC_000002.12:g.236165957G>A	ExAC,TOPMed,gnomAD
rs777837387	p.Ala335Asp	missense variant	-	NC_000002.12:g.236165957G>T	ExAC,TOPMed,gnomAD
rs758330836	p.His340Gln	missense variant	-	NC_000002.12:g.236165941A>C	ExAC,gnomAD
rs1384893315	p.His340Tyr	missense variant	-	NC_000002.12:g.236165943G>A	gnomAD
rs1298315920	p.His340Pro	missense variant	-	NC_000002.12:g.236165942T>G	TOPMed
rs1473997947	p.Gln342Glu	missense variant	-	NC_000002.12:g.236165937G>C	TOPMed,gnomAD
rs752507301	p.Glu344Asp	missense variant	-	NC_000002.12:g.236165929T>G	ExAC,TOPMed,gnomAD
rs1183275622	p.Gln345Lys	missense variant	-	NC_000002.12:g.236165928G>T	gnomAD
rs1442842489	p.Ala346Asp	missense variant	-	NC_000002.12:g.236165924G>T	gnomAD
rs371453117	p.Arg347Gln	missense variant	-	NC_000002.12:g.236165921C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro348His	missense variant	-	NC_000002.12:g.236165918G>T	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0019829	Hodgkin Disease	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0271097	Usher Syndrome	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	disease	CTD_human
C1862941	Amyotrophic Lateral Sclerosis, Sporadic	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA
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:0001085	RNA polymerase II transcription factor binding	IEA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003700	DNA-binding transcription factor activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0001755	neural crest cell migration	IEA
GO:0007399	nervous system development	TAS
GO:0007411	axon guidance	IEA
GO:0021549	cerebellum development	IBA
GO:0021555	midbrain-hindbrain boundary morphogenesis	IEA
GO:0021568	rhombomere 2 development	IEA
GO:0021794	thalamus development	IEA
GO:0021884	forebrain neuron development	IEA
GO:0021930	cerebellar granule cell precursor proliferation	IEA
GO:0030902	hindbrain development	IBA
GO:0042472	inner ear morphogenesis	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048483	autonomic nervous system development	IEA
GO:0051960	regulation of nervous system development	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
D000079	Acetaldehyde	Acetaldehyde affects the expression of GBX2 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of GBX2 mRNA	22230336
D019342	Acetic Acid	Acetic Acid results in increased expression of GBX2 protein	21296659
D000447	Aldehydes	Aldehydes results in increased expression of GBX2 mRNA	25014914
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GBX2 mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of GBX2 promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the reaction [AHR protein binds to GBX2 promoter]	19654925
C006780	bisphenol A	bisphenol A results in decreased expression of GBX2 mRNA	23557687
C006780	bisphenol A	bisphenol A results in decreased expression of GBX2 mRNA	26364221
C006780	bisphenol A	bisphenol A affects the methylation of GBX2 promoter	27334623
C006780	bisphenol A	bisphenol A affects the expression of GBX2 mRNA	25181051
C099813	bromochloroacetic acid	bromochloroacetic acid results in increased expression of GBX2 protein	21296659
C018475	butyraldehyde	butyraldehyde results in increased expression of GBX2 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GBX2 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of GBX2 mRNA	27392435
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of GBX2 mRNA	23914054
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C118739	entinostat	entinostat results in increased expression of GBX2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
C033789	fenarimol	fenarimol results in increased expression of GBX2 mRNA	28970091
C061365	flusilazole	flusilazole results in increased expression of GBX2 mRNA	22664269
C061365	flusilazole	flusilazole affects the expression of GBX2 mRNA	21195148; 22634333;
C061365	flusilazole	flusilazole affects the expression of GBX2 mRNA	27094377
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GBX2 gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of GBX2 mRNA	19167457
C007836	geraniol	geraniol results in decreased expression of GBX2 mRNA	27683099
C409722	hexaconazole	hexaconazole affects the expression of GBX2 mRNA	21195148
C544151	jinfukang	jinfukang results in decreased expression of GBX2 mRNA	27392435
C008261	lead acetate	lead acetate results in decreased expression of GBX2 mRNA	22613225; 25270620;
D000077339	Leflunomide	Leflunomide results in increased expression of GBX2 mRNA	19751817
D008713	Methimazole	Methimazole results in increased expression of GBX2 mRNA	22504374
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GBX2 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GBX2 mRNA	28001369
D009151	Mustard Gas	Mustard Gas results in increased expression of GBX2 mRNA	15674843
C028007	nickel monoxide	nickel monoxide results in decreased expression of GBX2 mRNA	19167457
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of GBX2 mRNA	26272509
C046012	pentanal	pentanal results in increased expression of GBX2 mRNA	26079696
D010634	Phenobarbital	Phenobarbital results in increased expression of GBX2 mRNA	25270620
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of GBX2 mRNA	21061450
D010936	Plant Extracts	Plant Extracts results in decreased expression of GBX2 mRNA	23557933
C045950	propiconazole	propiconazole results in increased expression of GBX2 mRNA	28970091
C005556	propionaldehyde	propionaldehyde results in increased expression of GBX2 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of GBX2 mRNA	22504374
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of GBX2 mRNA	23274088
C043680	ptaquiloside	ptaquiloside results in decreased expression of GBX2 mRNA	23274088
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of GBX2 mRNA	23274088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GBX2 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the reaction [AHR protein binds to GBX2 promoter]	19654925
D014212	Tretinoin	Tretinoin results in decreased expression of GBX2 mRNA	16604517
D014212	Tretinoin	Tretinoin results in increased expression of GBX2 mRNA	20488242; 22262565;
C032910	triadimefon	triadimefon affects the expression of GBX2 mRNA	21195148
C032910	triadimefon	triadimefon results in increased expression of GBX2 mRNA	28263823
C011559	tributyltin	tributyltin results in decreased expression of GBX2 mRNA	21683754
C012589	trichostatin A	trichostatin A results in increased expression of GBX2 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GBX2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of GBX2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of GBX2 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of GBX2 mRNA	23179753; 24383497; 24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of GBX2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR042982	GBX-1/2
IPR031250	GBX-2
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: GBX2

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

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-miRNA interaction