CleftGeneDB-Search

Gene: ALX3

Basic information

Tag	Content
Uniprot ID	O95076; O95075; Q5T8M4;
Entrez ID	257
Genbank protein ID	AAI13429.1; AAD01418.1; AAI12008.1; EAW56430.1; AAD01417.2;
Genbank nucleotide ID	NM_006492.2
Ensembl protein ID	ENSP00000497310
Ensembl nucleotide ID	ENSG00000156150
Gene name	Homeobox protein aristaless-like 3
Gene symbol	ALX3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional regulator with a possible role in patterning of mesoderm during development.
Sequence	MDPEHCAPFR VGPAPGPYVA SGDEPPGPQG TPAAAPHLHP APPRGPRLTR FPACGPLEPY 60 LPEPAKPPAK YLQDLGPGPA LNGGHFYEGP AEAEEKTSKA ASFPQLPLDC RGGPRDGPSN 120 LQGSPGPCLA SLHLPLSPGL PDSMELAKNK SKKRRNRTTF STFQLEELEK VFQKTHYPDV 180 YAREQLALRT DLTEARVQVW FQNRRAKWRK RERYGKIQEG RNPFTAAYDI SVLPRTDSHP 240 QLQNSLWASP GSGSPGGPCL VSPEGIPSPC MSPYSHPHGS VAGFMGVPAP SAAHPGIYSI 300 HGFPPTLGGH SFEPSSDGDY KSPSLVSLRV KPKEPPGLLN WTT 343

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	ALX3	102184773	A0A452G5Q5		Capra hircus	Prediction	More>>
1:1 ortholog	ALX3	257	O95076		Homo sapiens	Prediction	More>>
1:1 ortholog	Alx3	11694	O70137	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ALX3	469416	H2PZM0		Pan troglodytes	Prediction	More>>
1:1 ortholog	ALX3		F1S615		Sus scrofa	Prediction	More>>
1:1 ortholog	ALX3	100355559	G1SXT4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Alx3		F1LN97		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1418403036	p.Asp2Glu	missense variant	-	NC_000001.11:g.110070607G>T	TOPMed
rs1179137128	p.Cys6Trp	missense variant	-	NC_000001.11:g.110070595G>C	TOPMed
rs975514659	p.Ala7Thr	missense variant	-	NC_000001.11:g.110070594C>T	TOPMed,gnomAD
rs1309475385	p.Ala7Glu	missense variant	-	NC_000001.11:g.110070593G>T	TOPMed,gnomAD
rs1309475385	p.Ala7Val	missense variant	-	NC_000001.11:g.110070593G>A	TOPMed,gnomAD
rs1334792590	p.Gly12Arg	missense variant	-	NC_000001.11:g.110070579C>T	TOPMed,gnomAD
rs1334792590	p.Gly12Arg	missense variant	-	NC_000001.11:g.110070579C>G	TOPMed,gnomAD
rs1471219733	p.Gly12Glu	missense variant	-	NC_000001.11:g.110070578C>T	gnomAD
rs964012645	p.Pro13Leu	missense variant	-	NC_000001.11:g.110070575G>A	TOPMed
rs1303766758	p.Gly16Cys	missense variant	-	NC_000001.11:g.110070567C>A	TOPMed
rs1361700069	p.Tyr18Cys	missense variant	-	NC_000001.11:g.110070560T>C	TOPMed,gnomAD
rs1361700069	p.Tyr18Phe	missense variant	-	NC_000001.11:g.110070560T>A	TOPMed,gnomAD
rs1183613164	p.Val19Ala	missense variant	-	NC_000001.11:g.110070557A>G	gnomAD
rs1331393213	p.Gly22Arg	missense variant	-	NC_000001.11:g.110070549C>G	TOPMed
rs1351190932	p.Asp23Glu	missense variant	-	NC_000001.11:g.110070544G>C	TOPMed
rs1300395938	p.Glu24Lys	missense variant	-	NC_000001.11:g.110070543C>T	TOPMed,gnomAD
rs1020856559	p.Pro28Arg	missense variant	-	NC_000001.11:g.110070530G>C	TOPMed
rs1256366776	p.Pro28Thr	missense variant	-	NC_000001.11:g.110070531G>T	TOPMed
rs1020856559	p.Pro28Leu	missense variant	-	NC_000001.11:g.110070530G>A	TOPMed
rs1256366776	p.Pro28Ser	missense variant	-	NC_000001.11:g.110070531G>A	TOPMed
rs893323237	p.Thr31Ser	missense variant	-	NC_000001.11:g.110070521G>C	TOPMed,gnomAD
rs1198010210	p.Pro32Arg	missense variant	-	NC_000001.11:g.110070518G>C	TOPMed
rs1434513928	p.Ala35Glu	missense variant	-	NC_000001.11:g.110070509G>T	TOPMed
rs1384782742	p.Pro36Ser	missense variant	-	NC_000001.11:g.110070507G>A	TOPMed,gnomAD
rs1348399808	p.His37Gln	missense variant	-	NC_000001.11:g.110070502G>C	TOPMed
rs1460726387	p.Pro40Ala	missense variant	-	NC_000001.11:g.110070495G>C	TOPMed
rs1371658245	p.Pro43Ser	missense variant	-	NC_000001.11:g.110070486G>A	TOPMed
rs774644842	p.Pro46Arg	missense variant	-	NC_000001.11:g.110070476G>C	ExAC,TOPMed,gnomAD
rs1301333738	p.Arg47Gln	missense variant	-	NC_000001.11:g.110070473C>T	TOPMed
rs769009378	p.Leu48Arg	missense variant	-	NC_000001.11:g.110070470A>C	ExAC,gnomAD
rs1001916056	p.Arg50Cys	missense variant	-	NC_000001.11:g.110070465G>A	TOPMed
rs375790592	p.Pro52Leu	missense variant	-	NC_000001.11:g.110070458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775462465	p.Cys54Ser	missense variant	-	NC_000001.11:g.110070453A>T	ExAC,TOPMed,gnomAD
rs757496737	p.Pro56Ser	missense variant	-	NC_000001.11:g.110070447G>A	ExAC,TOPMed,gnomAD
rs757496737	p.Pro56Thr	missense variant	-	NC_000001.11:g.110070447G>T	ExAC,TOPMed,gnomAD
rs1320547873	p.Leu57Pro	missense variant	-	NC_000001.11:g.110070443A>G	gnomAD
rs781525090	p.Pro59Thr	missense variant	-	NC_000001.11:g.110070438G>T	ExAC,gnomAD
rs771353213	p.Tyr60Cys	missense variant	-	NC_000001.11:g.110070434T>C	ExAC,gnomAD
rs1219901152	p.Leu61His	missense variant	-	NC_000001.11:g.110070431A>T	TOPMed,gnomAD
rs372506798	p.Pro64Leu	missense variant	-	NC_000001.11:g.110070422G>A	ESP,ExAC,TOPMed,gnomAD
rs754614088	p.Ala65Thr	missense variant	-	NC_000001.11:g.110070420C>T	ExAC,TOPMed,gnomAD
rs931112658	p.Ala65Val	missense variant	-	NC_000001.11:g.110070419G>A	TOPMed,gnomAD
rs12756321	p.Pro68Ala	missense variant	-	NC_000001.11:g.110070411G>C	ExAC,gnomAD
rs12756321	p.Pro68Ser	missense variant	-	NC_000001.11:g.110070411G>A	ExAC,gnomAD
rs1424577146	p.Ala69Ser	missense variant	-	NC_000001.11:g.110070408C>A	TOPMed
rs768518768	p.Gly76Arg	missense variant	-	NC_000001.11:g.110070387C>G	ExAC,TOPMed,gnomAD
rs768518768	p.Gly76Arg	missense variant	-	NC_000001.11:g.110070387C>T	ExAC,TOPMed,gnomAD
rs751418045	p.Gly78Cys	missense variant	-	NC_000001.11:g.110070381C>A	ExAC,TOPMed,gnomAD
rs751418045	p.Gly78Arg	missense variant	-	NC_000001.11:g.110070381C>G	ExAC,TOPMed,gnomAD
rs1403701618	p.Gly78Ala	missense variant	-	NC_000001.11:g.110070380C>G	gnomAD
rs751418045	p.Gly78Ser	missense variant	-	NC_000001.11:g.110070381C>T	ExAC,TOPMed,gnomAD
rs894251902	p.Pro79Arg	missense variant	-	NC_000001.11:g.110070377G>C	TOPMed
rs894251902	p.Pro79Leu	missense variant	-	NC_000001.11:g.110070377G>A	TOPMed
rs1034525185	p.Leu81Ile	missense variant	-	NC_000001.11:g.110070372G>T	TOPMed
rs764336621	p.Asn82Lys	missense variant	-	NC_000001.11:g.110070367G>T	ExAC,TOPMed,gnomAD
rs763124335	p.Gly83Arg	missense variant	-	NC_000001.11:g.110070366C>G	ExAC,TOPMed,gnomAD
rs1353007739	p.His85Leu	missense variant	-	NC_000001.11:g.110070359T>A	gnomAD
rs775617106	p.Tyr87Ter	stop gained	-	NC_000001.11:g.110070352G>C	ExAC,gnomAD
rs1036273636	p.Glu88Lys	missense variant	-	NC_000001.11:g.110070351C>T	TOPMed,gnomAD
rs765289566	p.Gly89Ser	missense variant	-	NC_000001.11:g.110070348C>T	ExAC,gnomAD
rs760085972	p.Pro90Thr	missense variant	-	NC_000001.11:g.110070345G>T	ExAC,TOPMed,gnomAD
rs760085972	p.Pro90Ala	missense variant	-	NC_000001.11:g.110070345G>C	ExAC,TOPMed,gnomAD
rs1182288660	p.Ala91Val	missense variant	-	NC_000001.11:g.110070341G>A	TOPMed
rs765502729	p.Glu95Gln	missense variant	-	NC_000001.11:g.110064898C>G	ExAC,TOPMed,gnomAD
rs765502729	p.Glu95Lys	missense variant	-	NC_000001.11:g.110064898C>T	ExAC,TOPMed,gnomAD
rs1243868299	p.Lys96Thr	missense variant	-	NC_000001.11:g.110064894T>G	TOPMed
rs759554226	p.Ser98Cys	missense variant	-	NC_000001.11:g.110064888G>C	ExAC,gnomAD
rs759554226	p.Ser98Phe	missense variant	-	NC_000001.11:g.110064888G>A	ExAC,gnomAD
rs1232577650	p.Ser98Ala	missense variant	-	NC_000001.11:g.110064889A>C	gnomAD
rs975515598	p.Ala100Asp	missense variant	-	NC_000001.11:g.110064882G>T	gnomAD
rs975515598	p.Ala100Gly	missense variant	-	NC_000001.11:g.110064882G>C	gnomAD
rs1367826631	p.Cys110Gly	missense variant	-	NC_000001.11:g.110064853A>C	gnomAD
rs772380963	p.Arg111Gln	missense variant	-	NC_000001.11:g.110064849C>T	ExAC,TOPMed,gnomAD
rs772380963	p.Arg111Pro	missense variant	-	NC_000001.11:g.110064849C>G	ExAC,TOPMed,gnomAD
rs550218304	p.Gly112Arg	missense variant	-	NC_000001.11:g.110064847C>G	gnomAD
rs748547900	p.Gly113Ser	missense variant	-	NC_000001.11:g.110064844C>T	ExAC,gnomAD
rs774944899	p.Gly113Ala	missense variant	-	NC_000001.11:g.110064843C>G	ExAC,gnomAD
rs769505099	p.Arg115Lys	missense variant	-	NC_000001.11:g.110064837C>T	ExAC,gnomAD
rs373683008	p.Asp116Gly	missense variant	-	NC_000001.11:g.110064834T>C	ESP,TOPMed,gnomAD
rs372198014	p.Asp116His	missense variant	-	NC_000001.11:g.110064835C>G	ESP,ExAC,TOPMed,gnomAD
rs146795178	p.Asp116Glu	missense variant	-	NC_000001.11:g.110064833G>T	ESP,ExAC,TOPMed,gnomAD
rs146795178	p.Asp116Glu	missense variant	-	NC_000001.11:g.110064833G>C	ESP,ExAC,TOPMed,gnomAD
rs372198014	p.Asp116Asn	missense variant	-	NC_000001.11:g.110064835C>T	ESP,ExAC,TOPMed,gnomAD
rs138645472	p.Gly117Arg	missense variant	-	NC_000001.11:g.110064832C>T	1000Genomes,TOPMed,gnomAD
rs746998409	p.Pro118Ser	missense variant	-	NC_000001.11:g.110064829G>A	ExAC,gnomAD
rs1175764444	p.Asn120Asp	missense variant	-	NC_000001.11:g.110064823T>C	gnomAD
rs758063471	p.Gln122His	missense variant	-	NC_000001.11:g.110064815T>G	ExAC,gnomAD
rs1183085942	p.Gly123Val	missense variant	-	NC_000001.11:g.110064813C>A	gnomAD
rs1265580905	p.Pro125Ser	missense variant	-	NC_000001.11:g.110064808G>A	gnomAD
rs1021734981	p.Pro127Thr	missense variant	-	NC_000001.11:g.110064802G>T	TOPMed
rs1274651169	p.Cys128Tyr	missense variant	-	NC_000001.11:g.110064798C>T	TOPMed
rs1011257958	p.Cys128Gly	missense variant	-	NC_000001.11:g.110064799A>C	TOPMed,gnomAD
rs1011257958	p.Cys128Ser	missense variant	-	NC_000001.11:g.110064799A>T	TOPMed,gnomAD
rs1282612228	p.Leu129Arg	missense variant	-	NC_000001.11:g.110064795A>C	gnomAD
rs139794205	p.Leu129Val	missense variant	-	NC_000001.11:g.110064796G>C	ESP,ExAC,TOPMed,gnomAD
rs75373920	p.Ala130Pro	missense variant	-	NC_000001.11:g.110064793C>G	ExAC,gnomAD
rs766497153	p.Ser131Arg	missense variant	-	NC_000001.11:g.110064788G>C	ExAC,gnomAD
rs761160635	p.His133Tyr	missense variant	-	NC_000001.11:g.110064784G>A	ExAC,gnomAD
rs1380450002	p.Leu134Phe	missense variant	-	NC_000001.11:g.110064781G>A	gnomAD
rs750826128	p.Pro135Ser	missense variant	-	NC_000001.11:g.110064778G>A	ExAC,gnomAD
rs907064240	p.Ser137Ala	missense variant	-	NC_000001.11:g.110064772A>C	TOPMed
rs768080424	p.Pro138Leu	missense variant	-	NC_000001.11:g.110064768G>A	ExAC,TOPMed,gnomAD
rs768080424	p.Pro138Gln	missense variant	-	NC_000001.11:g.110064768G>T	ExAC,TOPMed,gnomAD
rs1156677151	p.Gly139Arg	missense variant	-	NC_000001.11:g.110064766C>T	gnomAD
rs199713385	p.Gly139Glu	missense variant	-	NC_000001.11:g.110064765C>T	1000Genomes,ExAC,gnomAD
rs940123816	p.Asp142Ala	missense variant	-	NC_000001.11:g.110064756T>G	gnomAD
rs759311249	p.Ser143Tyr	missense variant	-	NC_000001.11:g.110064753G>T	ExAC
rs769539181	p.Ser143Ala	missense variant	-	NC_000001.11:g.110064754A>C	ExAC
rs368492786	p.Met144Thr	missense variant	-	NC_000001.11:g.110064750A>G	ESP,ExAC,TOPMed,gnomAD
rs1198379411	p.Met144Ile	missense variant	-	NC_000001.11:g.110064749C>T	TOPMed
rs200156688	p.Leu146Trp	missense variant	-	NC_000001.11:g.110064744A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs746523989	p.Ala147Val	missense variant	-	NC_000001.11:g.110064741G>A	ExAC,gnomAD
rs1020677419	p.Lys152Gln	missense variant	-	NC_000001.11:g.110064727T>G	TOPMed
rs772069495	p.Lys153Arg	missense variant	-	NC_000001.11:g.110064723T>C	ExAC,gnomAD
rs1286337278	p.Arg154His	missense variant	-	NC_000001.11:g.110064720C>T	gnomAD
rs1286337278	p.Arg154Pro	missense variant	-	NC_000001.11:g.110064720C>G	gnomAD
rs535409677	p.Arg154Cys	missense variant	-	NC_000001.11:g.110064721G>A	1000Genomes
rs746228217	p.Arg155Cys	missense variant	-	NC_000001.11:g.110064718G>A	ExAC,TOPMed,gnomAD
rs975672419	p.Arg155His	missense variant	-	NC_000001.11:g.110064717C>T	gnomAD
rs755174727	p.Arg157His	missense variant	-	NC_000001.11:g.110064711C>T	ExAC,TOPMed,gnomAD
rs375422680	p.Arg157Cys	missense variant	-	NC_000001.11:g.110064712G>A	ESP,ExAC,TOPMed,gnomAD
rs1053677141	p.Thr158Met	missense variant	-	NC_000001.11:g.110064708G>A	TOPMed,gnomAD
rs143366374	p.Ser161Gly	missense variant	-	NC_000001.11:g.110064700T>C	ESP
rs201420718	p.Phe163Ser	missense variant	-	NC_000001.11:g.110064693A>G	1000Genomes
rs1469187660	p.Glu167Lys	missense variant	-	NC_000001.11:g.110064682C>T	gnomAD
RCV000004907	p.Leu168Val	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	ClinVar
rs121908167	p.Leu168Val	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	UniProt,dbSNP
VAR_063226	p.Leu168Val	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	UniProt
rs121908167	p.Leu168Val	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064679G>C	gnomAD
rs1284257489	p.Glu169Gln	missense variant	-	NC_000001.11:g.110064676C>G	TOPMed
rs767866679	p.Lys170Asn	missense variant	-	NC_000001.11:g.110064671C>G	ExAC,TOPMed,gnomAD
rs767866679	p.Lys170Asn	missense variant	-	NC_000001.11:g.110064671C>A	ExAC,TOPMed,gnomAD
rs1340121089	p.Gln173Glu	missense variant	-	NC_000001.11:g.110064664G>C	TOPMed
rs762419542	p.Lys174Glu	missense variant	-	NC_000001.11:g.110064661T>C	ExAC,gnomAD
rs1209517534	p.Thr175Ile	missense variant	-	NC_000001.11:g.110064657G>A	TOPMed
rs751847093	p.His176Leu	missense variant	-	NC_000001.11:g.110064654T>A	ExAC,TOPMed,gnomAD
RCV000004909	p.Tyr181Ter	nonsense	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064638A>T	ClinVar
rs121908169	p.Tyr181Ter	stop gained	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064638A>T	TOPMed,gnomAD
rs776355454	p.Arg183Leu	missense variant	-	NC_000001.11:g.110064633C>A	ExAC,TOPMed,gnomAD
RCV000004908	p.Arg183Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	ClinVar
rs776355454	p.Arg183Gln	missense variant	-	NC_000001.11:g.110064633C>T	ExAC,TOPMed,gnomAD
rs121908168	p.Arg183Trp	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064634G>A	ExAC,TOPMed,gnomAD
rs121908168	p.Arg183Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	UniProt,dbSNP
VAR_063227	p.Arg183Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	UniProt
rs760056467	p.Arg189Cys	missense variant	-	NC_000001.11:g.110064616G>A	ExAC,TOPMed,gnomAD
rs199983753	p.Arg189His	missense variant	-	NC_000001.11:g.110064615C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1293427085	p.Asp191Gly	missense variant	-	NC_000001.11:g.110064609T>C	gnomAD
rs1047196284	p.Leu192Met	missense variant	-	NC_000001.11:g.110064607G>T	TOPMed,gnomAD
RCV000004910	p.Thr193Ter	frameshift	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064600_110064603TCAG[1]	ClinVar
rs771876784	p.Glu194Asp	missense variant	-	NC_000001.11:g.110064599C>G	ExAC
rs1340833776	p.Ala195Thr	missense variant	-	NC_000001.11:g.110064598C>T	gnomAD
rs121908170	p.Arg196Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	UniProt,dbSNP
VAR_063228	p.Arg196Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	UniProt
rs121908170	p.Arg196Trp	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064595G>A	1000Genomes,ExAC,gnomAD
RCV000004911	p.Arg196Trp	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	ClinVar
rs1226266345	p.Trp200Ser	missense variant	-	NC_000001.11:g.110061559C>G	TOPMed
rs121908166	p.Asn203Ser	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110061550T>C	-
rs121908166	p.Asn203Ser	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	UniProt,dbSNP
VAR_063229	p.Asn203Ser	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	UniProt
RCV000004906	p.Asn203Ser	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	ClinVar
rs374651713	p.Arg204His	missense variant	-	NC_000001.11:g.110061547C>T	ESP,ExAC,TOPMed,gnomAD
rs1199055481	p.Arg204Cys	missense variant	-	NC_000001.11:g.110061548G>A	TOPMed,gnomAD
rs705279	p.Arg205Lys	missense variant	-	NC_000001.11:g.110061544C>T	TOPMed
rs761654304	p.Ala206Val	missense variant	-	NC_000001.11:g.110061541G>A	ExAC,gnomAD
rs774210543	p.Lys207Arg	missense variant	-	NC_000001.11:g.110061538T>C	ExAC,gnomAD
rs749039409	p.Arg209Trp	missense variant	-	NC_000001.11:g.110061533G>A	ExAC,TOPMed,gnomAD
rs775299987	p.Arg209Gln	missense variant	-	NC_000001.11:g.110061532C>T	ExAC,TOPMed,gnomAD
rs1411410627	p.Lys210Arg	missense variant	-	NC_000001.11:g.110061529T>C	TOPMed
rs781127904	p.Arg211Ser	missense variant	-	NC_000001.11:g.110061527G>T	ExAC,TOPMed,gnomAD
rs781127904	p.Arg211Cys	missense variant	-	NC_000001.11:g.110061527G>A	ExAC,TOPMed,gnomAD
rs757293052	p.Arg211His	missense variant	-	NC_000001.11:g.110061526C>T	ExAC,TOPMed,gnomAD
rs778377987	p.Glu212Lys	missense variant	-	NC_000001.11:g.110061524C>T	ExAC,gnomAD
rs150129126	p.Arg213His	missense variant	-	NC_000001.11:g.110061520C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759007659	p.Arg213Cys	missense variant	-	NC_000001.11:g.110061521G>A	ExAC,TOPMed,gnomAD
rs201764848	p.Gly215Ala	missense variant	-	NC_000001.11:g.110061514C>G	1000Genomes
rs1313405565	p.Glu219Lys	missense variant	-	NC_000001.11:g.110061503C>T	TOPMed
rs1335385096	p.Gly220Glu	missense variant	-	NC_000001.11:g.110061499C>T	gnomAD
rs375503292	p.Arg221Gln	missense variant	-	NC_000001.11:g.110061496C>T	ESP,ExAC,TOPMed,gnomAD
rs765747640	p.Arg221Trp	missense variant	-	NC_000001.11:g.110061497G>A	ExAC,TOPMed,gnomAD
rs538430669	p.Asn222Ile	missense variant	-	NC_000001.11:g.110061493T>A	1000Genomes,ExAC,gnomAD
rs370985645	p.Asn222Tyr	missense variant	-	NC_000001.11:g.110061494T>A	ESP
rs761334835	p.Pro223Ser	missense variant	-	NC_000001.11:g.110061491G>A	ExAC
rs1159900506	p.Thr225Met	missense variant	-	NC_000001.11:g.110061484G>A	gnomAD
rs140822231	p.Ala226Val	missense variant	-	NC_000001.11:g.110061481G>A	ESP,ExAC,gnomAD
rs775250647	p.Ala227Val	missense variant	-	NC_000001.11:g.110061478G>A	ExAC,gnomAD
rs769697275	p.Tyr228His	missense variant	-	NC_000001.11:g.110061476A>G	ExAC,TOPMed,gnomAD
rs769697275	p.Tyr228Asn	missense variant	-	NC_000001.11:g.110061476A>T	ExAC,TOPMed,gnomAD
rs745653169	p.Tyr228Cys	missense variant	-	NC_000001.11:g.110061475T>C	ExAC,gnomAD
rs771081739	p.Asp229Gly	missense variant	-	NC_000001.11:g.110061472T>C	ExAC,gnomAD
rs199801560	p.Ile230Ser	missense variant	-	NC_000001.11:g.110061469A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778041172	p.Val232Met	missense variant	-	NC_000001.11:g.110061464C>T	ExAC,TOPMed,gnomAD
rs199753639	p.Arg235His	missense variant	-	NC_000001.11:g.110061454C>T	ExAC,TOPMed,gnomAD
rs199753639	p.Arg235Pro	missense variant	-	NC_000001.11:g.110061454C>G	ExAC,TOPMed,gnomAD
rs145535704	p.Arg235Gly	missense variant	-	NC_000001.11:g.110061455G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145535704	p.Arg235Cys	missense variant	-	NC_000001.11:g.110061455G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751044375	p.Asp237His	missense variant	-	NC_000001.11:g.110061449C>G	ExAC,gnomAD
rs1382320668	p.Ser238Asn	missense variant	-	NC_000001.11:g.110061445C>T	gnomAD
rs1299720353	p.His239Tyr	missense variant	-	NC_000001.11:g.110061443G>A	TOPMed,gnomAD
rs1452315698	p.Gln243Leu	missense variant	-	NC_000001.11:g.110061037T>A	gnomAD
RCV000677633	p.Leu246Ter	frameshift	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061028_110061029del	ClinVar
rs769070620	p.Leu246Pro	missense variant	-	NC_000001.11:g.110061028A>G	ExAC,gnomAD
rs751277589	p.Pro250Leu	missense variant	-	NC_000001.11:g.110061016G>A	ExAC,TOPMed,gnomAD
RCV000193142	p.Pro250Ala	missense variant	-	NC_000001.11:g.110061017G>C	ClinVar
rs145995775	p.Pro250Ala	missense variant	-	NC_000001.11:g.110061017G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145995775	p.Pro250Ser	missense variant	-	NC_000001.11:g.110061017G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1331109420	p.Gly251Glu	missense variant	-	NC_000001.11:g.110061013C>T	gnomAD
rs777405716	p.Gly251Arg	missense variant	-	NC_000001.11:g.110061014C>T	ExAC,gnomAD
rs757845800	p.Ser252Pro	missense variant	-	NC_000001.11:g.110061011A>G	ExAC,gnomAD
rs1408091351	p.Ser252Tyr	missense variant	-	NC_000001.11:g.110061010G>T	gnomAD
rs1402434565	p.Ser254Asn	missense variant	-	NC_000001.11:g.110061004C>T	TOPMed,gnomAD
rs752170553	p.Ser254Arg	missense variant	-	NC_000001.11:g.110061003G>T	ExAC,gnomAD
rs958377466	p.Pro258Ala	missense variant	-	NC_000001.11:g.110060993G>C	TOPMed
rs1427445118	p.Cys259Arg	missense variant	-	NC_000001.11:g.110060990A>G	gnomAD
rs535807605	p.Val261Leu	missense variant	-	NC_000001.11:g.110060984C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1348561420	p.Pro263Thr	missense variant	-	NC_000001.11:g.110060978G>T	TOPMed
rs1204331938	p.Gly265Asp	missense variant	-	NC_000001.11:g.110060971C>T	TOPMed
rs759432791	p.Pro267Thr	missense variant	-	NC_000001.11:g.110060966G>T	ExAC,gnomAD
rs753646963	p.Ser268Phe	missense variant	-	NC_000001.11:g.110060962G>A	ExAC,gnomAD
rs766147329	p.Pro269Arg	missense variant	-	NC_000001.11:g.110060959G>C	ExAC,gnomAD
rs760977295	p.Cys270Arg	missense variant	-	NC_000001.11:g.110060957A>G	ExAC,TOPMed,gnomAD
rs760977295	p.Cys270Gly	missense variant	-	NC_000001.11:g.110060957A>C	ExAC,TOPMed,gnomAD
rs1043530442	p.Met271Ile	missense variant	-	NC_000001.11:g.110060952C>T	TOPMed
rs773504281	p.Tyr274Asn	missense variant	-	NC_000001.11:g.110060945A>T	ExAC,gnomAD
rs772440892	p.His276Gln	missense variant	-	NC_000001.11:g.110060937G>T	ExAC,gnomAD
rs189671232	p.Pro277Thr	missense variant	-	NC_000001.11:g.110060936G>T	1000Genomes,ExAC,gnomAD
rs769180172	p.His278Gln	missense variant	-	NC_000001.11:g.110060931A>C	ExAC,gnomAD
rs1332023787	p.His278Pro	missense variant	-	NC_000001.11:g.110060932T>G	gnomAD
rs1403546626	p.Gly279Arg	missense variant	-	NC_000001.11:g.110060930C>T	gnomAD
rs947709896	p.Ser280Arg	missense variant	-	NC_000001.11:g.110060925A>C	gnomAD
rs775915786	p.Ala282Pro	missense variant	-	NC_000001.11:g.110060921C>G	ExAC,gnomAD
rs1396050113	p.Gly283Asp	missense variant	-	NC_000001.11:g.110060917C>T	TOPMed
rs1449456071	p.Phe284Val	missense variant	-	NC_000001.11:g.110060915A>C	TOPMed
rs770075558	p.Met285Ile	missense variant	-	NC_000001.11:g.110060910C>T	ExAC,gnomAD
rs1156864404	p.Met285Thr	missense variant	-	NC_000001.11:g.110060911A>G	gnomAD
rs1239309424	p.Gly286Ala	missense variant	-	NC_000001.11:g.110060908C>G	TOPMed,gnomAD
rs1239309424	p.Gly286Glu	missense variant	-	NC_000001.11:g.110060908C>T	TOPMed,gnomAD
rs746242886	p.Val287Gly	missense variant	-	NC_000001.11:g.110060905A>C	ExAC,gnomAD
rs372079233	p.Pro290Arg	missense variant	-	NC_000001.11:g.110060896G>C	gnomAD
rs145253023	p.Ala292Val	missense variant	-	NC_000001.11:g.110060890G>A	ESP,ExAC,TOPMed,gnomAD
rs1322920301	p.Pro295Leu	missense variant	-	NC_000001.11:g.110060881G>A	TOPMed
rs1283200830	p.Gly296Ser	missense variant	-	NC_000001.11:g.110060879C>T	gnomAD
rs962176008	p.Gly296Asp	missense variant	-	NC_000001.11:g.110060878C>T	TOPMed,gnomAD
rs1443348208	p.Tyr298His	missense variant	-	NC_000001.11:g.110060873A>G	TOPMed
rs778336298	p.Tyr298Ter	stop gained	-	NC_000001.11:g.110060871G>T	ExAC,TOPMed,gnomAD
rs754931220	p.His301Arg	missense variant	-	NC_000001.11:g.110060863T>C	ExAC,gnomAD
rs1227310293	p.Pro305Ser	missense variant	-	NC_000001.11:g.110060852G>A	TOPMed
rs755918125	p.Thr306Pro	missense variant	-	NC_000001.11:g.110060849T>G	ExAC,gnomAD
rs755918125	p.Thr306Ala	missense variant	-	NC_000001.11:g.110060849T>C	ExAC,gnomAD
rs1316578533	p.Leu307Arg	missense variant	-	NC_000001.11:g.110060845A>C	gnomAD
rs767813698	p.Gly308Glu	missense variant	-	NC_000001.11:g.110060842C>T	ExAC,gnomAD
rs1443298633	p.Ser311Arg	missense variant	-	NC_000001.11:g.110060832G>T	gnomAD
rs774474483	p.Phe312Ser	missense variant	-	NC_000001.11:g.110060830A>G	ExAC,gnomAD
rs1240732822	p.Pro314Arg	missense variant	-	NC_000001.11:g.110060824G>C	gnomAD
rs1240732822	p.Pro314His	missense variant	-	NC_000001.11:g.110060824G>T	gnomAD
rs760086926	p.Pro314Ser	missense variant	-	NC_000001.11:g.110060825G>A	ExAC,gnomAD
rs760086926	p.Pro314Thr	missense variant	-	NC_000001.11:g.110060825G>T	ExAC,gnomAD
rs551530170	p.Gly318Asp	missense variant	-	NC_000001.11:g.110060812C>T	1000Genomes,ExAC,gnomAD
rs1336290376	p.Asp319Gly	missense variant	-	NC_000001.11:g.110060809T>C	gnomAD
rs376262878	p.Tyr320Cys	missense variant	-	NC_000001.11:g.110060806T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376262878	p.Tyr320Phe	missense variant	-	NC_000001.11:g.110060806T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1228665539	p.Ser324Cys	missense variant	-	NC_000001.11:g.110060795T>A	gnomAD
rs747814890	p.Val326Ile	missense variant	-	NC_000001.11:g.110060789C>T	ExAC,gnomAD
rs373342900	p.Val326Ala	missense variant	-	NC_000001.11:g.110060788A>G	ESP,ExAC,TOPMed,gnomAD
rs780095146	p.Arg329Ser	missense variant	-	NC_000001.11:g.110060778C>G	ExAC,TOPMed,gnomAD
rs756156186	p.Val330Ile	missense variant	-	NC_000001.11:g.110060777C>T	ExAC,TOPMed,gnomAD
rs1162784148	p.Lys331Asn	missense variant	-	NC_000001.11:g.110060772C>G	TOPMed
rs1415750729	p.Pro332Ser	missense variant	-	NC_000001.11:g.110060771G>A	TOPMed
rs141042736	p.Lys333Thr	missense variant	-	NC_000001.11:g.110060767T>G	ESP,ExAC,TOPMed,gnomAD
rs757495070	p.Lys333Glu	missense variant	-	NC_000001.11:g.110060768T>C	ExAC,gnomAD
rs369347396	p.Pro335Leu	missense variant	-	NC_000001.11:g.110060761G>A	ESP,ExAC,TOPMed,gnomAD
rs775577933	p.Gly337Ser	missense variant	-	NC_000001.11:g.110060756C>T	ExAC,TOPMed,gnomAD
rs201913545	p.Trp341Ter	stop gained	-	NC_000001.11:g.110060743C>T	1000Genomes
rs765702189	p.Thr342Ser	missense variant	-	NC_000001.11:g.110060740G>C	ExAC,TOPMed,gnomAD
rs776967754	p.Thr343Lys	missense variant	-	NC_000001.11:g.110060737G>T	ExAC,gnomAD
rs776967754	p.Thr343Met	missense variant	-	NC_000001.11:g.110060737G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0005745	Blepharoptosis	disease	HPO
C0009363	Congenital ocular coloboma (disorder)	disease	BEFREE;HPO
C0018777	Conductive hearing loss	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0024228	Lymphatic Diseases	group	GENOMICS_ENGLAND
C0025362	Mental Retardation	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0027819	Neuroblastoma	group	BEFREE
C0032357	Poland Syndrome	disease	BEFREE
C0039685	Tetralogy of Fallot	disease	HPO
C0086543	Cataract	disease	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158113	Contracture of joint of hand	phenotype	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0220767	Craniofrontonasal dysplasia	disease	BEFREE
C0221357	Brachydactyly	disease	HPO
C0239234	Low set ears	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0265610	Congenital clinodactyly	disease	HPO
C0423903	Low intelligence	phenotype	HPO
C0426428	Bifid nasal tip	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432106	Midline facial cleft - Tessier cleft 0	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0685409	Congenital Camptodactyly	disease	HPO
C0700095	Central neuroblastoma	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1333160	Lipoma of corpus callosum	disease	HPO
C1334170	Indolent Non-Hodgkin Lymphoma	disease	BEFREE
C1510497	Lens Opacities	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1835762	Widely-spaced maxillary central incisors	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1839764	Broad flat nasal bridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845110	Central incisor gap	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850256	Median cleft lip	disease	HPO
C1850961	Anterior basal encephalocele	disease	HPO
C1850968	Median cleft palate	disease	HPO
C1850970	Frontal cutaneous lipoma	phenotype	HPO
C1853486	Widow's peak	disease	BEFREE;HPO
C1857479	Short columella	phenotype	HPO
C1859682	Hypoplastic frontal sinuses	phenotype	HPO
C1860816	Preauricular skin tag	phenotype	HPO
C1868598	PARIETAL FORAMINA	disease	HPO
C1876203	Frontonasal dysplasia	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C4020876	Dull intelligence	phenotype	HPO
C4020890	Notched nasal tip	phenotype	HPO
C4025226	Pectoral muscle hypoplasia/aplasia	phenotype	HPO
C4072826	Skin tag on the posterior cheek	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4280252	Diastema between maxillary central incisors	phenotype	HPO
C4280304	Curvature of digit	phenotype	HPO
C4280548	Hypotrophic frontal sinus	phenotype	HPO
C4280549	Decreased pneumatization of frontal sinus	phenotype	HPO
C4280585	Hypoplasia of columella	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO

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: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:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IEA
GO:0007389	pattern specification process	IEA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0042981	regulation of apoptotic process	IEA
GO:0048701	embryonic cranial skeleton morphogenesis	IEA

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
D000082	Acetaminophen	Acetaminophen results in increased expression of ALX3 mRNA	29067470
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of ALX3 gene	25435355
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of ALX3 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of ALX3 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of ALX3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of ALX3 gene	28505145
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ALX3 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of ALX3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of ALX3 mRNA	27392435
D003300	Copper	Copper deficiency results in increased expression of ALX3 mRNA	26033743
D003471	Cuprizone	Cuprizone results in increased expression of ALX3 mRNA	26577399
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of ALX3 mRNA	26033743
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ALX3 gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of ALX3 promoter	22847954
C069837	fullerene C60	fullerene C60 results in decreased expression of ALX3 mRNA	19167457
C039281	furan	furan results in decreased expression of ALX3 mRNA	27387713
C004312	glycidol	glycidol results in decreased expression of ALX3 mRNA	24915197
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of ALX3 mRNA	27392435
C008261	lead acetate	lead acetate results in decreased methylation of ALX3 gene	29571894
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ALX3 gene	20938992
C028007	nickel monoxide	nickel monoxide results in decreased expression of ALX3 mRNA	19167457
D010278	Parathion	Parathion results in increased methylation of ALX3 promoter	22847954
D011441	Propylthiouracil	Propylthiouracil affects the expression of ALX3 mRNA	24780913
C012568	terbufos	terbufos results in increased methylation of ALX3 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ALX3 mRNA	24058054
D014212	Tretinoin	Tretinoin results in increased expression of ALX3 mRNA	21934132; 23724009;
D014212	Tretinoin	Tretinoin results in increased expression of ALX3 mRNA	20488242
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ALX3 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR033211	ALX3
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: ALX3

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-protein interaction