CleftGeneDB-Search

Gene: LHX8

Basic information

Tag	Content
Uniprot ID	Q68G74; E9PGE3;
Entrez ID	431707
Genbank protein ID	AAH40321.1
Genbank nucleotide ID	NM_001001933.1; NM_001256114.1;
Ensembl protein ID	ENSP00000294638; ENSP00000348597;
Ensembl nucleotide ID	ENSG00000162624
Gene name	LIM/homeobox protein Lhx8
Gene symbol	LHX8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	21462296
Functional description	Transcription factor involved in differentiation of certain neurons and mesenchymal cells.
Sequence	MQILSRCQGL MSEECGRTTA LAAGRTRKGA GEEGLVSPEG AGDEDSCSSS APLSPSSSPR 60 SMASGSGCPP GKCVCNSCGL EIVDKYLLKV NDLCWHVRCL SCSVCRTSLG RHTSCYIKDK 120 DIFCKLDYFR RYGTRCSRCG RHIHSTDWVR RAKGNVYHLA CFACFSCKRQ LSTGEEFALV 180 EEKVLCRVHY DCMLDNLKRE VENGNGISVE GALLTEQDVN HPKPAKRART SFTADQLQVM 240 QAQFAQDNNP DAQTLQKLAE RTGLSRRVIQ VWFQNCRARH KKHVSPNHSS STPVTAVPPS 300 RLSPPMLEEM AYSAYVPQDG TMLTALHSYM DAHSPTTLGL QPLLPHSMTQ LPISHT 356

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	LHX8	431707	Q68G74			Homo sapiens	Publication	More>>
1:1 ortholog	Lhx8	16875	O35652	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	LHX8	469353	H2R2T0			Pan troglodytes	Prediction	More>>
1:1 ortholog	Lhx8	365963	G3V6V6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	lhx8a		A5PMV8			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
LHX8	haplotype combination rs17565565C/rs6593568A	Genotyping	21462296

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs202103118	p.Leu4Pro	missense variant	-	NC_000001.11:g.75130725T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6127669	p.Ser5Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75130728G>C	NCI-TCGA Cosmic
rs865917241	p.Arg6Ser	missense variant	-	NC_000001.11:g.75130732G>C	gnomAD
rs1324455608	p.Gln8Arg	missense variant	-	NC_000001.11:g.75136607A>G	gnomAD
rs1370960423	p.Leu10Phe	missense variant	-	NC_000001.11:g.75136612C>T	TOPMed,gnomAD
rs546038231	p.Met11Thr	missense variant	-	NC_000001.11:g.75136616T>C	1000Genomes
rs116590034	p.Met11Leu	missense variant	-	NC_000001.11:g.75136615A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116590034	p.Met11Val	missense variant	-	NC_000001.11:g.75136615A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1300209641	p.Met11Ile	missense variant	-	NC_000001.11:g.75136617G>A	gnomAD
rs116590034	p.Met11Leu	missense variant	-	NC_000001.11:g.75136615A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser12Pro	missense variant	-	NC_000001.11:g.75136618T>C	NCI-TCGA
rs376772505	p.Arg17Trp	missense variant	-	NC_000001.11:g.75136633C>T	ESP,ExAC,TOPMed,gnomAD
rs948066616	p.Arg17Pro	missense variant	-	NC_000001.11:g.75136634G>C	TOPMed,gnomAD
rs1251031449	p.Thr18Pro	missense variant	-	NC_000001.11:g.75136636A>C	gnomAD
rs1164496745	p.Thr19Ile	missense variant	-	NC_000001.11:g.75136640C>T	gnomAD
rs1409443237	p.Ala22Val	missense variant	-	NC_000001.11:g.75136649C>T	TOPMed
rs1474307907	p.Ala23Val	missense variant	-	NC_000001.11:g.75136652C>T	gnomAD
rs1419351988	p.Gly24Arg	missense variant	-	NC_000001.11:g.75136654G>C	TOPMed
rs910576688	p.Arg25Lys	missense variant	-	NC_000001.11:g.75136658G>A	TOPMed
rs1414870487	p.Arg27Cys	missense variant	-	NC_000001.11:g.75136663C>T	gnomAD
rs1414870487	p.Arg27Gly	missense variant	-	NC_000001.11:g.75136663C>G	gnomAD
rs143612358	p.Arg27Leu	missense variant	-	NC_000001.11:g.75136664G>T	ESP,ExAC,TOPMed,gnomAD
COSM912120	p.Arg27His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75136664G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly29Cys	missense variant	-	NC_000001.11:g.75136669G>T	NCI-TCGA
rs746689969	p.Gly29Ala	missense variant	-	NC_000001.11:g.75136670G>C	ExAC,TOPMed,gnomAD
rs1393862322	p.Ala30Thr	missense variant	-	NC_000001.11:g.75136672G>A	TOPMed,gnomAD
rs1393862322	p.Ala30Ser	missense variant	-	NC_000001.11:g.75136672G>T	TOPMed,gnomAD
rs1320852521	p.Gly31Arg	missense variant	-	NC_000001.11:g.75136675G>A	gnomAD
rs1324989988	p.Glu32Gly	missense variant	-	NC_000001.11:g.75136679A>G	gnomAD
rs780709963	p.Glu33Lys	missense variant	-	NC_000001.11:g.75136681G>A	ExAC,TOPMed,gnomAD
rs369761078	p.Gly34Glu	missense variant	-	NC_000001.11:g.75136685G>A	ESP,TOPMed,gnomAD
rs1309340752	p.Gly34Arg	missense variant	-	NC_000001.11:g.75136684G>A	TOPMed
rs1044730798	p.Ser37Asn	missense variant	-	NC_000001.11:g.75137104G>A	TOPMed,gnomAD
rs755685023	p.Pro38Leu	missense variant	-	NC_000001.11:g.75137107C>T	ExAC,TOPMed,gnomAD
COSM682119	p.Glu39Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137109G>A	NCI-TCGA Cosmic
COSM1687927	p.Gly40Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137113G>A	NCI-TCGA Cosmic
rs141641179	p.Ala41Val	missense variant	-	NC_000001.11:g.75137116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly42Trp	missense variant	-	NC_000001.11:g.75137118G>T	NCI-TCGA
rs1197803184	p.Gly42Glu	missense variant	-	NC_000001.11:g.75137119G>A	gnomAD
rs1197803184	p.Gly42Ala	missense variant	-	NC_000001.11:g.75137119G>C	gnomAD
COSM5728830	p.Gly42Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137118G>A	NCI-TCGA Cosmic
rs1397497933	p.Asp43Glu	missense variant	-	NC_000001.11:g.75137123C>A	gnomAD
rs772396075	p.Asp43Asn	missense variant	-	NC_000001.11:g.75137121G>A	ExAC,gnomAD
rs373338242	p.Asp43Gly	missense variant	-	NC_000001.11:g.75137122A>G	ESP,ExAC,TOPMed,gnomAD
rs1397497933	p.Asp43Glu	missense variant	-	NC_000001.11:g.75137123C>G	gnomAD
COSM912121	p.Glu44Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137124G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser46Pro	missense variant	-	NC_000001.11:g.75137130T>C	NCI-TCGA
rs1173451037	p.Ser46Leu	missense variant	-	NC_000001.11:g.75137131C>T	gnomAD
rs1173451037	p.Ser46Trp	missense variant	-	NC_000001.11:g.75137131C>G	gnomAD
COSM4467631	p.Ser50Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137143C>T	NCI-TCGA Cosmic
rs761088950	p.Ala51Thr	missense variant	-	NC_000001.11:g.75137145G>A	ExAC,TOPMed,gnomAD
rs1031372468	p.Pro52Ser	missense variant	-	NC_000001.11:g.75137148C>T	TOPMed,gnomAD
COSM4009873	p.Pro52Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137149C>T	NCI-TCGA Cosmic
rs551664529	p.Ser54Phe	missense variant	-	NC_000001.11:g.75137155C>T	1000Genomes,ExAC,gnomAD
rs1249851043	p.Pro55Leu	missense variant	-	NC_000001.11:g.75137158C>T	gnomAD
rs779574295	p.Pro55Ser	missense variant	-	NC_000001.11:g.75137157C>T	ExAC,gnomAD
rs754252647	p.Ser56Leu	missense variant	-	NC_000001.11:g.75137161C>T	ExAC,gnomAD
rs755492871	p.Pro59Ser	missense variant	-	NC_000001.11:g.75137169C>T	ExAC,gnomAD
rs376300206	p.Arg60Trp	missense variant	-	NC_000001.11:g.75137172C>T	ESP,ExAC,TOPMed,gnomAD
rs376300206	p.Arg60Gly	missense variant	-	NC_000001.11:g.75137172C>G	ESP,ExAC,TOPMed,gnomAD
rs1193593018	p.Arg60Gln	missense variant	-	NC_000001.11:g.75137173G>A	gnomAD
rs758890953	p.Met62Ile	missense variant	-	NC_000001.11:g.75137180G>T	ExAC,gnomAD
rs1371048574	p.Ser64Leu	missense variant	-	NC_000001.11:g.75137185C>T	TOPMed,gnomAD
rs1194857339	p.Ser64Pro	missense variant	-	NC_000001.11:g.75137184T>C	gnomAD
rs1461014285	p.Gly65Arg	missense variant	-	NC_000001.11:g.75137187G>C	gnomAD
rs549689179	p.Pro70Ala	missense variant	-	NC_000001.11:g.75137202C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs549689179	p.Pro70Ser	missense variant	-	NC_000001.11:g.75137202C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1362329391	p.Gly71Ser	missense variant	-	NC_000001.11:g.75137205G>A	TOPMed,gnomAD
rs1018284578	p.Lys72Glu	missense variant	-	NC_000001.11:g.75137208A>G	TOPMed
NCI-TCGA novel	p.Cys73Gly	missense variant	-	NC_000001.11:g.75137211T>G	NCI-TCGA
NCI-TCGA novel	p.Cys75GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.75137210_75137211GT>-	NCI-TCGA
NCI-TCGA novel	p.Ser77Ile	missense variant	-	NC_000001.11:g.75137224G>T	NCI-TCGA
rs774218214	p.Gly79Ser	missense variant	-	NC_000001.11:g.75137229G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val83Met	missense variant	-	NC_000001.11:g.75137241G>A	NCI-TCGA
rs760344998	p.Tyr86Asn	missense variant	-	NC_000001.11:g.75137250T>A	ExAC,gnomAD
rs1298766462	p.Val90Ala	missense variant	-	NC_000001.11:g.75140986T>C	TOPMed,gnomAD
rs1298766462	p.Val90Gly	missense variant	-	NC_000001.11:g.75140986T>G	TOPMed,gnomAD
rs1414218575	p.Val90Leu	missense variant	-	NC_000001.11:g.75140985G>T	gnomAD
rs373880349	p.Asn91Ile	missense variant	-	NC_000001.11:g.75140989A>T	ESP,ExAC,gnomAD
rs1222501701	p.Asp92Tyr	missense variant	-	NC_000001.11:g.75140991G>T	gnomAD
rs1233618557	p.Val97Ile	missense variant	-	NC_000001.11:g.75141006G>A	TOPMed
rs758993650	p.Arg98Trp	missense variant	-	NC_000001.11:g.75141009C>T	ExAC,TOPMed,gnomAD
rs764744913	p.Arg98Gln	missense variant	-	NC_000001.11:g.75141010G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu100Phe	missense variant	-	NC_000001.11:g.75141015C>T	NCI-TCGA
COSM1320912	p.Ser101Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141018T>C	NCI-TCGA Cosmic
COSM912122	p.Ser103Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141024A>T	NCI-TCGA Cosmic
rs1209017097	p.Val104Ile	missense variant	-	NC_000001.11:g.75141027G>A	NCI-TCGA Cosmic
rs1209017097	p.Val104Ile	missense variant	-	NC_000001.11:g.75141027G>A	gnomAD
rs1246697050	p.Ser108Thr	missense variant	-	NC_000001.11:g.75141039T>A	TOPMed
COSM2241767	p.Ser108Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141040C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu109Ile	missense variant	-	NC_000001.11:g.75141042C>A	NCI-TCGA
COSM4009875	p.His112Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141051C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr113Ala	missense variant	-	NC_000001.11:g.75141054A>G	NCI-TCGA
rs1204629726	p.Thr113Ile	missense variant	-	NC_000001.11:g.75141055C>T	gnomAD
rs199843823	p.Thr113Ser	missense variant	-	NC_000001.11:g.75141054A>T	ExAC,gnomAD
rs1454526403	p.Ile117Met	missense variant	-	NC_000001.11:g.75141068T>G	gnomAD
rs780026312	p.Ile117Leu	missense variant	-	NC_000001.11:g.75141066A>C	ExAC,TOPMed,gnomAD
rs1306820202	p.Lys120Thr	missense variant	-	NC_000001.11:g.75141076A>C	TOPMed
COSM912123	p.Lys120Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141077A>T	NCI-TCGA Cosmic
rs749421849	p.Phe123Ile	missense variant	-	NC_000001.11:g.75141084T>A	ExAC,TOPMed,gnomAD
rs749421849	p.Phe123Leu	missense variant	-	NC_000001.11:g.75141084T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys125Gln	missense variant	-	NC_000001.11:g.75141090A>C	NCI-TCGA
rs1393056105	p.Leu126Phe	missense variant	-	NC_000001.11:g.75141093C>T	gnomAD
COSM682118	p.Leu126Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141093C>A	NCI-TCGA Cosmic
COSM3419463	p.Tyr128Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141100A>G	NCI-TCGA Cosmic
rs771970118	p.Arg130Lys	missense variant	-	NC_000001.11:g.75141106G>A	ExAC,gnomAD
COSM682116	p.Arg130Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141106G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg131Trp	missense variant	-	NC_000001.11:g.75143119A>T	NCI-TCGA
rs1250830744	p.Arg131Gly	missense variant	-	NC_000001.11:g.75143119A>G	gnomAD
rs1477580554	p.Arg131Thr	missense variant	-	NC_000001.11:g.75143120G>C	gnomAD
rs767774054	p.Tyr132Cys	missense variant	-	NC_000001.11:g.75143123A>G	ExAC
rs367958622	p.Arg135His	missense variant	-	NC_000001.11:g.75143132G>A	NCI-TCGA,NCI-TCGA Cosmic
rs367958622	p.Arg135His	missense variant	-	NC_000001.11:g.75143132G>A	ESP,ExAC,TOPMed,gnomAD
COSM6064357	p.Ser137Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143137T>G	NCI-TCGA Cosmic
COSM75233	p.Ser137Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143138C>T	NCI-TCGA Cosmic
rs756269952	p.Arg138Gln	missense variant	-	NC_000001.11:g.75143141G>A	ExAC,TOPMed,gnomAD
rs1474711176	p.Gly140Ala	missense variant	-	NC_000001.11:g.75143147G>C	TOPMed
rs376834338	p.His142Gln	missense variant	-	NC_000001.11:g.75143154C>A	gnomAD
rs753913303	p.His144Arg	missense variant	-	NC_000001.11:g.75143159A>G	ExAC,gnomAD
COSM1687928	p.His144Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143158C>T	NCI-TCGA Cosmic
rs777629713	p.Thr146Ile	missense variant	-	NC_000001.11:g.75143165C>T	ExAC,gnomAD
rs371719492	p.Thr146Ala	missense variant	-	NC_000001.11:g.75143164A>G	ESP,ExAC,gnomAD
rs374741343	p.Trp148Cys	missense variant	-	NC_000001.11:g.75143172G>T	ESP,ExAC,gnomAD
rs745723075	p.Val149Ile	missense variant	-	NC_000001.11:g.75143173G>A	ExAC,gnomAD
rs1011085947	p.Arg150Trp	missense variant	-	NC_000001.11:g.75143176C>T	TOPMed
rs1276970518	p.Ala152Asp	missense variant	-	NC_000001.11:g.75143183C>A	gnomAD
rs769297194	p.Gly154Arg	missense variant	-	NC_000001.11:g.75143188G>C	ExAC,gnomAD
NCI-TCGA novel	p.Val156Ala	missense variant	-	NC_000001.11:g.75143195T>C	NCI-TCGA
rs775346408	p.Val156Phe	missense variant	-	NC_000001.11:g.75143194G>T	ExAC,gnomAD
rs775346408	p.Val156Ile	missense variant	-	NC_000001.11:g.75143194G>A	ExAC,gnomAD
COSM682115	p.Ala160Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143206G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys161Tyr	missense variant	-	NC_000001.11:g.75143210G>A	NCI-TCGA
rs768294649	p.Lys168Arg	missense variant	-	NC_000001.11:g.75143231A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg169Ser	missense variant	-	NC_000001.11:g.75143235G>T	NCI-TCGA
rs774931115	p.Arg169Thr	missense variant	-	NC_000001.11:g.75143234G>C	ExAC,gnomAD
rs767872147	p.Gln170Arg	missense variant	-	NC_000001.11:g.75143237A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser172Phe	missense variant	-	NC_000001.11:g.75143243C>T	NCI-TCGA
rs761169415	p.Ser172Thr	missense variant	-	NC_000001.11:g.75143242T>A	ExAC,gnomAD
rs1381277550	p.Thr173Ala	missense variant	-	NC_000001.11:g.75143245A>G	gnomAD
NCI-TCGA novel	p.Gly174Ala	missense variant	-	NC_000001.11:g.75143249G>C	NCI-TCGA
rs766574879	p.Glu175Asp	missense variant	-	NC_000001.11:g.75143253G>T	ExAC
COSM294520	p.Glu175GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143249_75143250GA>-	NCI-TCGA Cosmic
rs1163393831	p.Glu176Ter	stop gained	-	NC_000001.11:g.75143254G>T	gnomAD
rs1401627440	p.Leu179Phe	missense variant	-	NC_000001.11:g.75143265G>C	gnomAD
rs982386836	p.Val180Met	missense variant	-	NC_000001.11:g.75143266G>A	TOPMed
COSM912125	p.Val180Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143267T>C	NCI-TCGA Cosmic
COSM1344299	p.Glu182Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143274G>T	NCI-TCGA Cosmic
rs754988725	p.Arg187Lys	missense variant	-	NC_000001.11:g.75143288G>A	NCI-TCGA,NCI-TCGA Cosmic
rs754988725	p.Arg187Lys	missense variant	-	NC_000001.11:g.75143288G>A	ExAC,TOPMed,gnomAD
rs765335899	p.Asp191Glu	missense variant	-	NC_000001.11:g.75143301C>A	ExAC,gnomAD
rs765335899	p.Asp191Glu	missense variant	-	NC_000001.11:g.75143301C>G	ExAC,gnomAD
rs751468028	p.Met193Thr	missense variant	-	NC_000001.11:g.75143306T>C	ExAC
rs1355523653	p.Asp195Gly	missense variant	-	NC_000001.11:g.75143312A>G	gnomAD
rs757121845	p.Glu200Ala	missense variant	-	NC_000001.11:g.75143327A>C	ExAC,TOPMed,gnomAD
COSM1213336	p.Glu200Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143326G>T	NCI-TCGA Cosmic
rs1448281354	p.Val201Glu	missense variant	-	NC_000001.11:g.75143330T>A	TOPMed
rs755990929	p.Glu202Gln	missense variant	-	NC_000001.11:g.75143332G>C	ExAC,gnomAD
rs755990929	p.Glu202Lys	missense variant	-	NC_000001.11:g.75143332G>A	ExAC,gnomAD
COSM912126	p.Glu202Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143332G>T	NCI-TCGA Cosmic
rs779790278	p.Asn203Asp	missense variant	-	NC_000001.11:g.75143335A>G	ExAC
NCI-TCGA novel	p.Gly204Ala	missense variant	-	NC_000001.11:g.75143845G>C	NCI-TCGA
NCI-TCGA novel	p.Asn205Asp	missense variant	-	NC_000001.11:g.75143847A>G	NCI-TCGA
rs1255473604	p.Asn205Ser	missense variant	-	NC_000001.11:g.75143848A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly206Trp	missense variant	-	NC_000001.11:g.75143850G>T	NCI-TCGA
NCI-TCGA novel	p.Val209Met	missense variant	-	NC_000001.11:g.75143859G>A	NCI-TCGA
rs1303491602	p.Glu210Ala	missense variant	-	NC_000001.11:g.75143863A>C	TOPMed
rs773525258	p.Glu210Lys	missense variant	-	NC_000001.11:g.75143862G>A	ExAC,TOPMed,gnomAD
rs1174714503	p.Thr215Ala	missense variant	-	NC_000001.11:g.75143877A>G	gnomAD
rs1174714503	p.Thr215Ser	missense variant	-	NC_000001.11:g.75143877A>T	gnomAD
NCI-TCGA novel	p.Glu216Ter	stop gained	-	NC_000001.11:g.75143880G>T	NCI-TCGA
rs771240386	p.Asp218Ala	missense variant	-	NC_000001.11:g.75143887A>C	ExAC,TOPMed,gnomAD
rs906927847	p.Asp218Tyr	missense variant	-	NC_000001.11:g.75143886G>T	TOPMed
COSM682114	p.Val219Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143889G>C	NCI-TCGA Cosmic
rs1430193313	p.His221Tyr	missense variant	-	NC_000001.11:g.75143895C>T	TOPMed
NCI-TCGA novel	p.Arg227Lys	missense variant	-	NC_000001.11:g.75143914G>A	NCI-TCGA
NCI-TCGA novel	p.Arg227Ser	missense variant	-	NC_000001.11:g.75143915A>T	NCI-TCGA
rs776961606	p.Ala228Ser	missense variant	-	NC_000001.11:g.75143916G>T	ExAC,gnomAD
rs776961606	p.Ala228Ser	missense variant	-	NC_000001.11:g.75143916G>T	NCI-TCGA,NCI-TCGA Cosmic
COSM3790258	p.Arg229Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143920G>A	NCI-TCGA Cosmic
rs943066714	p.Asp235Tyr	missense variant	-	NC_000001.11:g.75143937G>T	gnomAD
rs943066714	p.Asp235His	missense variant	-	NC_000001.11:g.75143937G>C	gnomAD
rs943066714	p.Asp235Asn	missense variant	-	NC_000001.11:g.75143937G>A	gnomAD
rs1214800323	p.Phe244Tyr	missense variant	-	NC_000001.11:g.75148603T>A	gnomAD
rs1275665127	p.Ala245Ser	missense variant	-	NC_000001.11:g.75148605G>T	TOPMed,gnomAD
rs1275665127	p.Ala245Thr	missense variant	-	NC_000001.11:g.75148605G>A	TOPMed,gnomAD
rs746214620	p.Gln246Ter	stop gained	-	NC_000001.11:g.75148608C>T	ExAC,gnomAD
rs1025083539	p.Asn248Asp	missense variant	-	NC_000001.11:g.75148614A>G	TOPMed
rs1196170199	p.Thr254Ala	missense variant	-	NC_000001.11:g.75148632A>G	TOPMed
COSM3866087	p.Arg261Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75148654G>A	NCI-TCGA Cosmic
rs1420756328	p.Gly263Val	missense variant	-	NC_000001.11:g.75148660G>T	gnomAD
rs1420756328	p.Gly263Ala	missense variant	-	NC_000001.11:g.75148660G>C	gnomAD
COSM2150860	p.Arg267His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75148672G>A	NCI-TCGA Cosmic
rs1477240684	p.Gln270His	missense variant	-	NC_000001.11:g.75148682G>T	gnomAD
rs759572867	p.Cys276Phe	missense variant	-	NC_000001.11:g.75156909G>T	ExAC,gnomAD
COSM381722	p.Arg277Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156912G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala278Gly	missense variant	-	NC_000001.11:g.75156915C>G	NCI-TCGA
rs775327141	p.Arg279His	missense variant	-	NC_000001.11:g.75156918G>A	ExAC
COSM426687	p.Arg279Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156917C>T	NCI-TCGA Cosmic
rs1238635952	p.His280Arg	missense variant	-	NC_000001.11:g.75156921A>G	gnomAD
rs903869073	p.His283Leu	missense variant	-	NC_000001.11:g.75156930A>T	TOPMed,gnomAD
rs763786541	p.His283Tyr	missense variant	-	NC_000001.11:g.75156929C>T	ExAC,gnomAD
rs903869073	p.His283Pro	missense variant	-	NC_000001.11:g.75156930A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val284Phe	missense variant	-	NC_000001.11:g.75156932G>T	NCI-TCGA
rs756685357	p.Val284Ile	missense variant	-	NC_000001.11:g.75156932G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser285Arg	missense variant	-	NC_000001.11:g.75156937T>G	NCI-TCGA
rs767042515	p.Ser285Asn	missense variant	-	NC_000001.11:g.75156936G>A	ExAC,gnomAD
rs200810970	p.Pro286Arg	missense variant	-	NC_000001.11:g.75156939C>G	1000Genomes
NCI-TCGA novel	p.Asn287Lys	missense variant	-	NC_000001.11:g.75156943T>A	NCI-TCGA
COSM464946	p.Asn287Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156942A>G	NCI-TCGA Cosmic
rs866676237	p.His288Tyr	missense variant	-	NC_000001.11:g.75156944C>T	TOPMed,gnomAD
rs1465664677	p.Ser289Pro	missense variant	-	NC_000001.11:g.75156947T>C	gnomAD
rs892289229	p.Thr292Ser	missense variant	-	NC_000001.11:g.75156956A>T	TOPMed,gnomAD
rs1254384903	p.Thr292Ile	missense variant	-	NC_000001.11:g.75156957C>T	TOPMed
NCI-TCGA novel	p.Pro293Ser	missense variant	-	NC_000001.11:g.75156959C>T	NCI-TCGA
COSM6127668	p.Pro293Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156960C>A	NCI-TCGA Cosmic
rs1381958995	p.Val297Ile	missense variant	-	NC_000001.11:g.75156971G>A	TOPMed,gnomAD
rs1308939656	p.Val297Ala	missense variant	-	NC_000001.11:g.75156972T>C	gnomAD
rs1234495179	p.Pro298Leu	missense variant	-	NC_000001.11:g.75156975C>T	gnomAD
rs1372189262	p.Pro298Ser	missense variant	-	NC_000001.11:g.75156974C>T	TOPMed,gnomAD
rs201945188	p.Pro299Ser	missense variant	-	NC_000001.11:g.75156977C>T	ESP,ExAC,TOPMed,gnomAD
rs201945188	p.Pro299Thr	missense variant	-	NC_000001.11:g.75156977C>A	ESP,ExAC,TOPMed,gnomAD
rs375095039	p.Arg301Ser	missense variant	-	NC_000001.11:g.75156985G>C	ESP
rs755312408	p.Leu302Val	missense variant	-	NC_000001.11:g.75156986C>G	ExAC,TOPMed,gnomAD
rs755312408	p.Leu302Met	missense variant	-	NC_000001.11:g.75156986C>A	ExAC,TOPMed,gnomAD
rs909327356	p.Ser303Cys	missense variant	-	NC_000001.11:g.75156990C>G	TOPMed,gnomAD
rs984887072	p.Ser303Ala	missense variant	-	NC_000001.11:g.75156989T>G	TOPMed,gnomAD
rs943417924	p.Pro304Ser	missense variant	-	NC_000001.11:g.75156992C>T	TOPMed,gnomAD
COSM71433	p.Pro304Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156993C>A	NCI-TCGA Cosmic
rs559902996	p.Met306Val	missense variant	-	NC_000001.11:g.75156998A>G	ExAC,gnomAD
rs1002094310	p.Met306Thr	missense variant	-	NC_000001.11:g.75156999T>C	gnomAD
rs1432645495	p.Leu307Ser	missense variant	-	NC_000001.11:g.75157002T>C	gnomAD
rs368509617	p.Glu309Asp	missense variant	-	NC_000001.11:g.75157009A>T	ESP,ExAC,TOPMed,gnomAD
COSM4009877	p.Glu309Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157007G>C	NCI-TCGA Cosmic
rs747102164	p.Met310Val	missense variant	-	NC_000001.11:g.75157010A>G	ExAC,TOPMed,gnomAD
rs769768093	p.Ala311Ser	missense variant	-	NC_000001.11:g.75157013G>T	ExAC,gnomAD
NCI-TCGA novel	p.Val316Ala	missense variant	-	NC_000001.11:g.75157029T>C	NCI-TCGA
rs374046822	p.Val316Met	missense variant	-	NC_000001.11:g.75157028G>A	ESP,ExAC,gnomAD
rs1038927087	p.Pro317Ser	missense variant	-	NC_000001.11:g.75157031C>T	TOPMed
rs1276222256	p.Gln318Arg	missense variant	-	NC_000001.11:g.75157035A>G	gnomAD
rs763798465	p.Asp319Gly	missense variant	-	NC_000001.11:g.75157038A>G	ExAC,gnomAD
rs773949220	p.Gly320Glu	missense variant	-	NC_000001.11:g.75157041G>A	ExAC,gnomAD
COSM373903	p.Gly320Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157041G>T	NCI-TCGA Cosmic
rs1449009809	p.Thr321Ala	missense variant	-	NC_000001.11:g.75157043A>G	TOPMed
rs761472990	p.Thr321Met	missense variant	-	NC_000001.11:g.75157044C>T	ExAC,TOPMed,gnomAD
rs752595927	p.Leu323Val	missense variant	-	NC_000001.11:g.75157049T>G	ExAC,gnomAD
rs752595927	p.Leu323Ile	missense variant	-	NC_000001.11:g.75157049T>A	ExAC,gnomAD
rs34889650	p.Ala325Val	missense variant	-	NC_000001.11:g.75157056C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34889650	p.Ala325Glu	missense variant	-	NC_000001.11:g.75157056C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1185601695	p.His327Arg	missense variant	-	NC_000001.11:g.75157062A>G	-
NCI-TCGA novel	p.Ser328Ile	missense variant	-	NC_000001.11:g.75157065G>T	NCI-TCGA
rs1371762552	p.Ser328Cys	missense variant	-	NC_000001.11:g.75157064A>T	TOPMed,gnomAD
rs779442273	p.Met330Ile	missense variant	-	NC_000001.11:g.75157072G>A	ExAC,TOPMed,gnomAD
rs951512258	p.Asp331Asn	missense variant	-	NC_000001.11:g.75157073G>A	TOPMed,gnomAD
COSM414794	p.Asp331Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157075T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.His333Arg	missense variant	-	NC_000001.11:g.75160822A>G	NCI-TCGA
rs1296995272	p.His333Pro	missense variant	-	NC_000001.11:g.75160822A>C	gnomAD
rs765888467	p.His333Asn	missense variant	-	NC_000001.11:g.75160821C>A	ExAC,gnomAD
rs974169282	p.His333Gln	missense variant	-	NC_000001.11:g.75160823T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser334Leu	missense variant	-	NC_000001.11:g.75160825C>T	NCI-TCGA
rs1340554040	p.Pro335Leu	missense variant	-	NC_000001.11:g.75160828C>T	gnomAD
rs758892986	p.Thr336Ala	missense variant	-	NC_000001.11:g.75160830A>G	ExAC,gnomAD
rs1355370578	p.Thr337Ala	missense variant	-	NC_000001.11:g.75160833A>G	gnomAD
NCI-TCGA novel	p.Leu338Phe	missense variant	-	NC_000001.11:g.75160836C>T	NCI-TCGA
rs1288403904	p.Leu338Pro	missense variant	-	NC_000001.11:g.75160837T>C	gnomAD
COSM6064352	p.Gly339Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75160839G>T	NCI-TCGA Cosmic
rs1444594359	p.Leu340Phe	missense variant	-	NC_000001.11:g.75160842C>T	TOPMed
rs778086187	p.Leu340Pro	missense variant	-	NC_000001.11:g.75160843T>C	ExAC,gnomAD
rs751732544	p.Pro345Ser	missense variant	-	NC_000001.11:g.75160857C>T	ExAC,TOPMed,gnomAD
rs751732544	p.Pro345Thr	missense variant	-	NC_000001.11:g.75160857C>A	ExAC,TOPMed,gnomAD
COSM6127666	p.Pro345Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160858C>G	NCI-TCGA Cosmic
rs757317452	p.His346Asn	missense variant	-	NC_000001.11:g.75160860C>A	ExAC,TOPMed,gnomAD
COSM219159	p.Ser347Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75160864C>A	NCI-TCGA Cosmic
rs368782371	p.Met348Val	missense variant	-	NC_000001.11:g.75160866A>G	ESP,ExAC,TOPMed,gnomAD
COSM912129	p.Thr349Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160869A>G	NCI-TCGA Cosmic
rs377005651	p.Gln350His	missense variant	-	NC_000001.11:g.75160874A>C	ExAC,gnomAD
rs954138967	p.Gln350Glu	missense variant	-	NC_000001.11:g.75160872C>G	TOPMed
NCI-TCGA novel	p.Leu351Met	missense variant	-	NC_000001.11:g.75160875C>A	NCI-TCGA
rs768548369	p.Pro352Ser	missense variant	-	NC_000001.11:g.75160878C>T	ExAC,gnomAD
rs778887914	p.Ile353Met	missense variant	-	NC_000001.11:g.75160883A>G	ExAC,TOPMed,gnomAD
COSM1320911	p.His355Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160887C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr356Ala	missense variant	-	NC_000001.11:g.75160890A>G	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0025322	Premature Menopause	phenotype	BEFREE
C0040517	Gilles de la Tourette syndrome	disease	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE;LHGDN

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:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007611	learning or memory	IEA
GO:0008585	female gonad development	IEA
GO:0021884	forebrain neuron development	IBA
GO:0030182	neuron differentiation	IBA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0001674	female germ cell nucleus	IEA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of LHX8 mRNA	30723492
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of LHX8 mRNA	31388691
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of LHX8 mRNA	30723492
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 LHX8 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 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 LHX8 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 mercuric bromide 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 LHX8 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 LHX8 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 p-Chloromercuribenzoic 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 LHX8 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 trichostatin A 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 LHX8 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 LHX8 mRNA	27188386
D000111	Acetylcysteine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of LHX8 mRNA	22129741
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of LHX8 protein	20106945
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of LHX8 mRNA	21757418
D000447	Aldehydes	Aldehydes results in decreased expression of LHX8 mRNA	25014914
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of LHX8 mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of LHX8 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of LHX8 gene	25304211
D001151	Arsenic	Arsenic results in increased methylation of LHX8 gene	24525453
C015001	arsenite	arsenite results in increased methylation of LHX8 promoter	23974009
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in decreased methylation of LHX8 gene	29523930
C487081	belinostat	belinostat results in increased expression of LHX8 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 LHX8 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of LHX8 mRNA	21839799
C006780	bisphenol A	bisphenol A results in increased expression of LHX8 mRNA	29113915
C006780	bisphenol A	bisphenol A affects the methylation of LHX8 gene	24458533
C006780	bisphenol A	bisphenol A results in decreased expression of LHX8 mRNA	24458533
C006780	bisphenol A	bisphenol A results in decreased expression of LHX8 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of LHX8 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LHX8 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of LHX8 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of LHX8 mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in decreased methylation of LHX8 promoter	27989131
D016572	Cyclosporine	Cyclosporine results in increased expression of LHX8 mRNA	20106945
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate affects the methylation of LHX8 gene	24458533
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of LHX8 mRNA	24458533
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of LHX8 mRNA	22129741
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 LHX8 mRNA	27188386
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 LHX8 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 LHX8 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 LHX8 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 LHX8 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A 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 LHX8 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 LHX8 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of LHX8 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of LHX8 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 LHX8 mRNA	27188386
D000431	Ethanol	Ethanol affects the expression of LHX8 mRNA	30319688
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LHX8 gene	20938992
C039281	furan	furan results in decreased expression of LHX8 mRNA	25539665
C089796	hexabromocyclododecane	hexabromocyclododecane affects the expression of LHX8 mRNA	24680724
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of LHX8 mRNA	22129741
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of LHX8 mRNA	27392435
D000077339	Leflunomide	Leflunomide results in increased expression of LHX8 mRNA	19751817
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 LHX8 mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in decreased expression of LHX8 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of LHX8 gene	20938992
D009151	Mustard Gas	Mustard Gas results in increased expression of LHX8 mRNA	15674843
D009966	Orphenadrine	Orphenadrine affects the expression of LHX8 mRNA	23665939
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 LHX8 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of LHX8 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 LHX8 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of LHX8 mRNA	26272509
C046012	pentanal	pentanal results in decreased expression of LHX8 mRNA	26079696
C005556	propionaldehyde	propionaldehyde results in decreased expression of LHX8 mRNA	26079696
C105686	SU 5402	SU 5402 results in decreased expression of LHX8 mRNA	15355794
D000077210	Sunitinib	Sunitinib results in increased expression of LHX8 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of LHX8 mRNA	21570461; 24058054;
D013853	Thioacetamide	Thioacetamide results in decreased expression of LHX8 mRNA	23411599
D014212	Tretinoin	Tretinoin results in increased expression of LHX8 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of LHX8 mRNA	16000160
C012589	trichostatin A	[NOG protein co-treated with trichostatin A 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 LHX8 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of LHX8 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of LHX8 mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of LHX8 mRNA	19042947
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 LHX8 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of LHX8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of LHX8 mRNA	24383497; 24935251; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of LHX8 gene	25560391
D015025	Zearalenone	Zearalenone results in decreased expression of LHX8 mRNA	28089945
D015025	Zearalenone	Zearalenone results in decreased expression of LHX8 protein	28089945

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0440	LIM domain
KW-0479	Metal-binding
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR001781	Znf_LIM

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS00478	LIM_DOMAIN_1
PS50023	LIM_DOMAIN_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF00412	LIM

Gene: LHX8

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