CleftGeneDB-Search

Gene: MEOX2

Basic information

Tag	Content
Uniprot ID	P50222; A4D127; B2R8I7; O75263; Q9UPL6;
Entrez ID	4223
Genbank protein ID	EAL24289.1; AAC06184.1; AAH17021.1; AAC33152.1; BAG36184.1; AAA58497.1; CAA57949.1;
Genbank nucleotide ID	NM_005924.4
Ensembl protein ID	ENSP00000262041
Ensembl nucleotide ID	ENSG00000106511
Gene name	Homeobox protein MOX-2
Gene symbol	MEOX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner (PubMed:22206000). May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle.
Sequence	MEHPLFGCLR SPHATAQGLH PFSQSSLALH GRSDHMSYPE LSTSSSSCII AGYPNEEGMF 60 ASQHHRGHHH HHHHHHHHHH QQQQHQALQT NWHLPQMSSP PSAARHSLCL QPDSGGPPEL 120 GSSPPVLCSN SSSLGSSTPT GAACAPGDYG RQALSPAEAE KRSGGKRKSD SSDSQEGNYK 180 SEVNSKPRKE RTAFTKEQIR ELEAEFAHHN YLTRLRRYEI AVNLDLTERQ VKVWFQNRRM 240 KWKRVKGGQQ GAAAREKELV NVKKGTLLPS ELSGIGAATL QQTGDSIANE DSHDSDHSSE 300 HAHL 304

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	MEOX2	518540	A5D7C5			Bos taurus	Prediction	More>>
1:1 ortholog	AGMO		E2RDU9			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MEOX2	102177402	A0A452EJ65			Capra hircus	Prediction	More>>
1:1 ortholog	MEOX2	4223	P50222			Homo sapiens	Prediction	More>>
1:1 ortholog	Meox2	17286	P32443	CPO	E12.5, E13.5, E14.0, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	MEOX2	463273	H2QU74			Pan troglodytes	Prediction	More>>
1:1 ortholog	MEOX2		F1SEJ3			Sus scrofa	Prediction	More>>
1:1 ortholog	MEOX2	100355333	G1TP72			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Meox2		G3V6T9			Rattus norvegicus	Prediction	More>>
1:1 ortholog	meox2a	556898	E7FEH1			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs931616801	p.His3Pro	missense variant	-	NC_000007.14:g.15686395T>G	gnomAD
rs931616801	p.His3Arg	missense variant	-	NC_000007.14:g.15686395T>C	gnomAD
rs767352695	p.Pro4Thr	missense variant	-	NC_000007.14:g.15686393G>T	ExAC,gnomAD
rs1350549042	p.Pro4Arg	missense variant	-	NC_000007.14:g.15686392G>C	TOPMed
rs1455073384	p.Leu5Arg	missense variant	-	NC_000007.14:g.15686389A>C	gnomAD
rs1387161815	p.Leu5Val	missense variant	-	NC_000007.14:g.15686390G>C	gnomAD
rs556996298	p.Phe6Leu	missense variant	-	NC_000007.14:g.15686387A>G	1000Genomes
rs1195725546	p.Arg10Leu	missense variant	-	NC_000007.14:g.15686374C>A	TOPMed,gnomAD
rs1374143466	p.Arg10Ser	missense variant	-	NC_000007.14:g.15686375G>T	gnomAD
rs1374143466	p.Arg10Cys	missense variant	-	NC_000007.14:g.15686375G>A	gnomAD
rs1195725546	p.Arg10His	missense variant	-	NC_000007.14:g.15686374C>T	TOPMed,gnomAD
rs145506452	p.Ser11Arg	missense variant	-	NC_000007.14:g.15686370G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs762475762	p.Pro12Leu	missense variant	-	NC_000007.14:g.15686368G>A	ExAC,TOPMed,gnomAD
rs776021075	p.His13Leu	missense variant	-	NC_000007.14:g.15686365T>A	ExAC,TOPMed,gnomAD
rs1191384347	p.His13Tyr	missense variant	-	NC_000007.14:g.15686366G>A	TOPMed
rs770334664	p.His13Gln	missense variant	-	NC_000007.14:g.15686364G>T	ExAC,TOPMed,gnomAD
rs148483007	p.Ala14Asp	missense variant	-	NC_000007.14:g.15686362G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala14Thr	missense variant	-	NC_000007.14:g.15686363C>T	NCI-TCGA
rs148483007	p.Ala14Gly	missense variant	-	NC_000007.14:g.15686362G>C	ESP,ExAC,TOPMed,gnomAD
rs1208731845	p.Ala14Ser	missense variant	-	NC_000007.14:g.15686363C>A	gnomAD
rs777349008	p.Thr15Ala	missense variant	-	NC_000007.14:g.15686360T>C	ExAC,TOPMed,gnomAD
rs375110864	p.Thr15Met	missense variant	-	NC_000007.14:g.15686359G>A	ESP,TOPMed,gnomAD
rs747113547	p.Ala16Val	missense variant	-	NC_000007.14:g.15686356G>A	ExAC,gnomAD
rs1405769986	p.Ala16Thr	missense variant	-	NC_000007.14:g.15686357C>T	gnomAD
rs1321594102	p.Gln17Arg	missense variant	-	NC_000007.14:g.15686353T>C	gnomAD
rs1265783889	p.Gln17Glu	missense variant	-	NC_000007.14:g.15686354G>C	gnomAD
rs1404868689	p.Gly18Ser	missense variant	-	NC_000007.14:g.15686351C>T	gnomAD
rs777670878	p.Leu19Trp	missense variant	-	NC_000007.14:g.15686347A>C	ExAC,gnomAD
NCI-TCGA novel	p.His20Tyr	missense variant	-	NC_000007.14:g.15686345G>A	NCI-TCGA
rs568178264	p.His20Gln	missense variant	-	NC_000007.14:g.15686343G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1464557039	p.His20Asn	missense variant	-	NC_000007.14:g.15686345G>T	gnomAD
rs144533382	p.Pro21Thr	missense variant	-	NC_000007.14:g.15686342G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377671894	p.Pro21Arg	missense variant	-	NC_000007.14:g.15686341G>C	ESP,ExAC,TOPMed,gnomAD
rs377671894	p.Pro21Leu	missense variant	-	NC_000007.14:g.15686341G>A	ESP,ExAC,TOPMed,gnomAD
rs931682642	p.Ser23Tyr	missense variant	-	NC_000007.14:g.15686335G>T	TOPMed,gnomAD
rs931682642	p.Ser23Phe	missense variant	-	NC_000007.14:g.15686335G>A	TOPMed,gnomAD
rs1244654566	p.Ser23Pro	missense variant	-	NC_000007.14:g.15686336A>G	TOPMed,gnomAD
rs1244654566	p.Ser23Thr	missense variant	-	NC_000007.14:g.15686336A>T	TOPMed,gnomAD
rs757076676	p.Gln24Glu	missense variant	-	NC_000007.14:g.15686333G>C	ExAC,gnomAD
rs921018168	p.Ser25Thr	missense variant	-	NC_000007.14:g.15686330A>T	gnomAD
rs1263468837	p.Ser26Tyr	missense variant	-	NC_000007.14:g.15686326G>T	TOPMed,gnomAD
rs1263468837	p.Ser26Cys	missense variant	-	NC_000007.14:g.15686326G>C	TOPMed,gnomAD
rs141763500	p.Leu27Phe	missense variant	-	NC_000007.14:g.15686324G>A	ESP,TOPMed,gnomAD
rs141763500	p.Leu27Val	missense variant	-	NC_000007.14:g.15686324G>C	ESP,TOPMed,gnomAD
rs923010324	p.Ala28Thr	missense variant	-	NC_000007.14:g.15686321C>T	TOPMed,gnomAD
rs923010324	p.Ala28Ser	missense variant	-	NC_000007.14:g.15686321C>A	TOPMed,gnomAD
rs976514962	p.His30Arg	missense variant	-	NC_000007.14:g.15686314T>C	gnomAD
rs1436084001	p.Arg32Ser	missense variant	-	NC_000007.14:g.15686307T>A	gnomAD
rs775325876	p.Ser33Phe	missense variant	-	NC_000007.14:g.15686305G>A	ExAC,TOPMed,gnomAD
rs762531573	p.Ser33Ala	missense variant	-	NC_000007.14:g.15686306A>C	ExAC,TOPMed,gnomAD
rs762531573	p.Ser33Pro	missense variant	-	NC_000007.14:g.15686306A>G	ExAC,TOPMed,gnomAD
rs1325793804	p.Asp34His	missense variant	-	NC_000007.14:g.15686303C>G	gnomAD
COSM6176979	p.Asp34Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686303C>A	NCI-TCGA Cosmic
rs1445195868	p.His35Arg	missense variant	-	NC_000007.14:g.15686299T>C	TOPMed,gnomAD
rs1177554598	p.Ser37Phe	missense variant	-	NC_000007.14:g.15686293G>A	gnomAD
rs200846592	p.Glu40Ala	missense variant	-	NC_000007.14:g.15686284T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200846592	p.Glu40Gly	missense variant	-	NC_000007.14:g.15686284T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1171607657	p.Glu40Asp	missense variant	-	NC_000007.14:g.15686283C>A	TOPMed,gnomAD
rs760039633	p.Glu40Lys	missense variant	-	NC_000007.14:g.15686285C>T	ExAC
rs771496871	p.Leu41Phe	missense variant	-	NC_000007.14:g.15686282G>A	ExAC,TOPMed,gnomAD
rs747422920	p.Ser42Pro	missense variant	-	NC_000007.14:g.15686279A>G	ExAC,gnomAD
rs1187056682	p.Ser42Cys	missense variant	-	NC_000007.14:g.15686278G>C	TOPMed
rs907684119	p.Thr43Pro	missense variant	-	NC_000007.14:g.15686276T>G	TOPMed,gnomAD
rs1461002633	p.Ser45Phe	missense variant	-	NC_000007.14:g.15686269G>A	TOPMed
rs748219682	p.Ser46Ter	stop gained	-	NC_000007.14:g.15686266G>T	ExAC,gnomAD
rs772083188	p.Ser46Pro	missense variant	-	NC_000007.14:g.15686267A>G	ExAC,gnomAD
COSM3431430	p.Ser47Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686264A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys48Tyr	missense variant	-	NC_000007.14:g.15686260C>T	NCI-TCGA
NCI-TCGA novel	p.Ala51Thr	missense variant	-	NC_000007.14:g.15686252C>T	NCI-TCGA
rs1277698229	p.Ala51Ser	missense variant	-	NC_000007.14:g.15686252C>A	TOPMed,gnomAD
rs1218862332	p.Ala51Val	missense variant	-	NC_000007.14:g.15686251G>A	gnomAD
rs1351744848	p.Gly52Glu	missense variant	-	NC_000007.14:g.15686248C>T	gnomAD
rs200609553	p.Gly52Arg	missense variant	-	NC_000007.14:g.15686249C>G	1000Genomes
rs755133987	p.Pro54His	missense variant	-	NC_000007.14:g.15686242G>T	ExAC,gnomAD
COSM3995478	p.Pro54Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686242G>C	NCI-TCGA Cosmic
rs1376752653	p.Asn55Lys	missense variant	-	NC_000007.14:g.15686238G>T	gnomAD
COSM136591	p.Glu56Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686237C>T	NCI-TCGA Cosmic
rs138296490	p.Gly58Cys	missense variant	-	NC_000007.14:g.15686231C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146346021	p.Met59Leu	missense variant	-	NC_000007.14:g.15686228T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764063745	p.Met59Ile	missense variant	-	NC_000007.14:g.15686226C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala61Asp	missense variant	-	NC_000007.14:g.15686221G>T	NCI-TCGA
rs991895325	p.Ala61Thr	missense variant	-	NC_000007.14:g.15686222C>T	TOPMed,gnomAD
rs758050775	p.Ala61Val	missense variant	-	NC_000007.14:g.15686221G>A	ExAC,gnomAD
rs1156265860	p.Ser62Asn	missense variant	-	NC_000007.14:g.15686218C>T	gnomAD
rs1385368189	p.Gly67Arg	missense variant	-	NC_000007.14:g.15686204C>T	gnomAD
rs138679259	p.His69Asn	missense variant	-	NC_000007.14:g.15686198G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs551036356	p.His70Tyr	missense variant	-	NC_000007.14:g.15686195G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529311797	p.His71Arg	missense variant	-	NC_000007.14:g.15686191T>C	1000Genomes,ExAC,TOPMed
rs1288457026	p.His71Tyr	missense variant	-	NC_000007.14:g.15686192G>A	gnomAD
rs773658129	p.His72Leu	missense variant	-	NC_000007.14:g.15686188T>A	ExAC,gnomAD
rs761067039	p.His72Tyr	missense variant	-	NC_000007.14:g.15686189G>A	ExAC,gnomAD
rs1377644484	p.His73Arg	missense variant	-	NC_000007.14:g.15686185T>C	gnomAD
rs1230517479	p.His73Tyr	missense variant	-	NC_000007.14:g.15686186G>A	gnomAD
rs199751527	p.His74Gln	missense variant	-	NC_000007.14:g.15686181G>C	ESP,ExAC,TOPMed,gnomAD
rs1283904472	p.His74Arg	missense variant	-	NC_000007.14:g.15686182T>C	gnomAD
rs903273703	p.His75Gln	missense variant	-	NC_000007.14:g.15686178G>T	TOPMed,gnomAD
rs761894513	p.His76Arg	missense variant	-	NC_000007.14:g.15686176T>C	ExAC,TOPMed,gnomAD
rs768897912	p.His77Tyr	missense variant	-	NC_000007.14:g.15686174G>A	ExAC,gnomAD
rs1450504606	p.His79Arg	missense variant	-	NC_000007.14:g.15686167T>C	gnomAD
VAR_026040	p.His79_His80del	inframe_deletion	-	-	UniProt
VAR_026041	p.His80del	inframe_deletion	-	-	UniProt
rs1237651295	p.Gln81His	missense variant	-	NC_000007.14:g.15686160C>A	TOPMed
rs1412981158	p.Gln83His	missense variant	-	NC_000007.14:g.15686154C>G	gnomAD
rs1421926680	p.Gln83Pro	missense variant	-	NC_000007.14:g.15686155T>G	gnomAD
rs370719073	p.His85Asp	missense variant	-	NC_000007.14:g.15686150G>C	ESP,ExAC,TOPMed,gnomAD
rs370719073	p.His85Tyr	missense variant	-	NC_000007.14:g.15686150G>A	ESP,ExAC,TOPMed,gnomAD
rs746818920	p.His85Leu	missense variant	-	NC_000007.14:g.15686149T>A	ExAC,gnomAD
rs1214719282	p.Gln86Arg	missense variant	-	NC_000007.14:g.15686146T>C	gnomAD
rs1488119800	p.Gln86His	missense variant	-	NC_000007.14:g.15686145C>G	gnomAD
rs1279307289	p.Ala87Val	missense variant	-	NC_000007.14:g.15686143G>A	TOPMed
rs893377581	p.Ala87Pro	missense variant	-	NC_000007.14:g.15686144C>G	TOPMed,gnomAD
rs893377581	p.Ala87Thr	missense variant	-	NC_000007.14:g.15686144C>T	TOPMed,gnomAD
rs1320405727	p.Gln89Glu	missense variant	-	NC_000007.14:g.15686138G>C	gnomAD
rs777632205	p.Thr90Ser	missense variant	-	NC_000007.14:g.15686135T>A	ExAC,gnomAD
rs1257020276	p.Thr90Asn	missense variant	-	NC_000007.14:g.15686134G>T	gnomAD
rs758357349	p.Asn91Ser	missense variant	-	NC_000007.14:g.15686131T>C	ExAC,TOPMed,gnomAD
rs906709293	p.Asn91Asp	missense variant	-	NC_000007.14:g.15686132T>C	gnomAD
rs201748928	p.Asn91Lys	missense variant	-	NC_000007.14:g.15686130G>C	ESP,ExAC,TOPMed,gnomAD
rs1398991087	p.His93Asn	missense variant	-	NC_000007.14:g.15686126G>T	TOPMed,gnomAD
rs1037275055	p.His93Pro	missense variant	-	NC_000007.14:g.15686125T>G	gnomAD
rs1398991087	p.His93Tyr	missense variant	-	NC_000007.14:g.15686126G>A	TOPMed,gnomAD
rs1294706286	p.Leu94Phe	missense variant	-	NC_000007.14:g.15686123G>A	gnomAD
rs141081461	p.Pro95Arg	missense variant	-	NC_000007.14:g.15686119G>C	ESP,ExAC,TOPMed,gnomAD
rs141081461	p.Pro95Leu	missense variant	-	NC_000007.14:g.15686119G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln96Arg	missense variant	-	NC_000007.14:g.15686116T>C	NCI-TCGA
rs1192688588	p.Met97Ile	missense variant	-	NC_000007.14:g.15686112C>T	TOPMed,gnomAD
rs766049663	p.Met97Leu	missense variant	-	NC_000007.14:g.15686114T>A	ExAC,gnomAD
rs761000362	p.Met97Arg	missense variant	-	NC_000007.14:g.15686113A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser98Cys	missense variant	-	NC_000007.14:g.15686110G>C	NCI-TCGA
rs1477582537	p.Ser99Pro	missense variant	-	NC_000007.14:g.15686108A>G	gnomAD
rs561867178	p.Pro100Ala	missense variant	-	NC_000007.14:g.15686105G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs561867178	p.Pro100Ser	missense variant	-	NC_000007.14:g.15686105G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1264975769	p.Ser102Ile	missense variant	-	NC_000007.14:g.15686098C>A	gnomAD
rs1205823681	p.Ala103Thr	missense variant	-	NC_000007.14:g.15686096C>T	gnomAD
rs1296527890	p.Ala103Val	missense variant	-	NC_000007.14:g.15686095G>A	gnomAD
rs1320687241	p.Ala104Val	missense variant	-	NC_000007.14:g.15686092G>A	gnomAD
rs1218413777	p.Arg105Pro	missense variant	-	NC_000007.14:g.15686089C>G	TOPMed,gnomAD
rs1218413777	p.Arg105Gln	missense variant	-	NC_000007.14:g.15686089C>T	TOPMed,gnomAD
rs373584566	p.Arg105Gly	missense variant	-	NC_000007.14:g.15686090G>C	ESP,ExAC,TOPMed,gnomAD
rs1323751067	p.Ser107Arg	missense variant	-	NC_000007.14:g.15686082G>T	TOPMed,gnomAD
rs774437329	p.Leu108His	missense variant	-	NC_000007.14:g.15686080A>T	ExAC,gnomAD
rs1432528551	p.Gln111His	missense variant	-	NC_000007.14:g.15686070C>A	gnomAD
rs528476147	p.Asp113Glu	missense variant	-	NC_000007.14:g.15686064G>T	1000Genomes,ExAC,TOPMed
rs758998673	p.Asp113Tyr	missense variant	-	NC_000007.14:g.15686066C>A	TOPMed
rs528476147	p.Asp113Glu	missense variant	-	NC_000007.14:g.15686064G>C	1000Genomes,ExAC,TOPMed
COSM1312920	p.Asp113Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686066C>T	NCI-TCGA Cosmic
rs746797445	p.Gly116Ala	missense variant	-	NC_000007.14:g.15686056C>G	ExAC,TOPMed,gnomAD
rs746797445	p.Gly116Val	missense variant	-	NC_000007.14:g.15686056C>A	ExAC,TOPMed,gnomAD
rs770045601	p.Gly116Arg	missense variant	-	NC_000007.14:g.15686057C>T	ExAC,gnomAD
rs770045601	p.Gly116Trp	missense variant	-	NC_000007.14:g.15686057C>A	ExAC,gnomAD
rs1379205886	p.Pro117His	missense variant	-	NC_000007.14:g.15686053G>T	gnomAD
rs777561137	p.Pro117Thr	missense variant	-	NC_000007.14:g.15686054G>T	ExAC
rs1178463250	p.Pro118Ser	missense variant	-	NC_000007.14:g.15686051G>A	gnomAD
rs772153901	p.Pro118Gln	missense variant	-	NC_000007.14:g.15686050G>T	ExAC,gnomAD
COSM1449680	p.Pro118GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15686050G>-	NCI-TCGA Cosmic
rs748140998	p.Glu119Asp	missense variant	-	NC_000007.14:g.15686046C>A	ExAC,gnomAD
rs778960612	p.Leu120Val	missense variant	-	NC_000007.14:g.15686045A>C	ExAC,TOPMed,gnomAD
rs575381387	p.Gly121Ala	missense variant	-	NC_000007.14:g.15686041C>G	1000Genomes,ExAC,gnomAD
rs575381387	p.Gly121Glu	missense variant	-	NC_000007.14:g.15686041C>T	1000Genomes,ExAC,gnomAD
rs753373068	p.Ser122Arg	missense variant	-	NC_000007.14:g.15686037G>T	ExAC,gnomAD
rs1236917450	p.Ser122Asn	missense variant	-	NC_000007.14:g.15686038C>T	gnomAD
rs1300454099	p.Pro124Ser	missense variant	-	NC_000007.14:g.15686033G>A	TOPMed,gnomAD
rs1179519048	p.Pro125Ser	missense variant	-	NC_000007.14:g.15686030G>A	TOPMed
rs1258209754	p.Val126Leu	missense variant	-	NC_000007.14:g.15686027C>G	gnomAD
NCI-TCGA novel	p.Leu127Pro	missense variant	-	NC_000007.14:g.15686023A>G	NCI-TCGA
rs940405249	p.Cys128Phe	missense variant	-	NC_000007.14:g.15686020C>A	TOPMed
rs1230593339	p.Ser129Cys	missense variant	-	NC_000007.14:g.15686017G>C	TOPMed,gnomAD
rs924464418	p.Leu134Phe	missense variant	-	NC_000007.14:g.15686001C>G	TOPMed
rs977364770	p.Gly135Ser	missense variant	-	NC_000007.14:g.15686000C>T	gnomAD
rs977364770	p.Gly135Cys	missense variant	-	NC_000007.14:g.15686000C>A	gnomAD
rs750783408	p.Gly135Val	missense variant	-	NC_000007.14:g.15685999C>A	ExAC,gnomAD
rs1330570273	p.Ser136Cys	missense variant	-	NC_000007.14:g.15685996G>C	gnomAD
rs767821407	p.Ser137Gly	missense variant	-	NC_000007.14:g.15685994T>C	ExAC,gnomAD
rs1461895507	p.Ser137Ile	missense variant	-	NC_000007.14:g.15685993C>A	TOPMed
rs762144203	p.Thr138Ser	missense variant	-	NC_000007.14:g.15685990G>C	ExAC,TOPMed,gnomAD
rs762144203	p.Thr138Ile	missense variant	-	NC_000007.14:g.15685990G>A	ExAC,TOPMed,gnomAD
rs1464677938	p.Pro139Gln	missense variant	-	NC_000007.14:g.15685987G>T	TOPMed,gnomAD
rs1464677938	p.Pro139Arg	missense variant	-	NC_000007.14:g.15685987G>C	TOPMed,gnomAD
rs1464677938	p.Pro139Leu	missense variant	-	NC_000007.14:g.15685987G>A	TOPMed,gnomAD
rs1049360522	p.Pro139Thr	missense variant	-	NC_000007.14:g.15685988G>T	TOPMed,gnomAD
rs148170403	p.Gly141Arg	missense variant	-	NC_000007.14:g.15685982C>T	ESP,ExAC,TOPMed,gnomAD
rs1301715045	p.Gly141Ala	missense variant	-	NC_000007.14:g.15685981C>G	TOPMed
COSM6176980	p.Gly141Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685981C>T	NCI-TCGA Cosmic
COSM4922340	p.Ala143Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685976C>T	NCI-TCGA Cosmic
rs759767365	p.Pro146Leu	missense variant	-	NC_000007.14:g.15685966G>A	ExAC,gnomAD
rs772029318	p.Gly147Glu	missense variant	-	NC_000007.14:g.15685963C>T	ExAC,TOPMed,gnomAD
rs772029318	p.Gly147Val	missense variant	-	NC_000007.14:g.15685963C>A	ExAC,TOPMed,gnomAD
rs772029318	p.Gly147Ala	missense variant	-	NC_000007.14:g.15685963C>G	ExAC,TOPMed,gnomAD
rs1260971654	p.Asp148Asn	missense variant	-	NC_000007.14:g.15685961C>T	gnomAD
rs376342964	p.Tyr149Ter	stop gained	-	NC_000007.14:g.15685956G>T	ESP,ExAC,TOPMed,gnomAD
rs1446742111	p.Tyr149His	missense variant	-	NC_000007.14:g.15685958A>G	TOPMed,gnomAD
COSM745703	p.Tyr149Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685957T>C	NCI-TCGA Cosmic
rs748751582	p.Arg151Leu	missense variant	-	NC_000007.14:g.15685951C>A	ExAC,TOPMed,gnomAD
rs202079444	p.Arg151Ser	missense variant	-	NC_000007.14:g.15685952G>T	ExAC,TOPMed,gnomAD
rs1440790938	p.Ala153Thr	missense variant	-	NC_000007.14:g.15685946C>T	gnomAD
rs779577335	p.Ala153Val	missense variant	-	NC_000007.14:g.15685945G>A	ExAC,TOPMed,gnomAD
rs1428242992	p.Leu154Val	missense variant	-	NC_000007.14:g.15685943G>C	TOPMed
rs757688209	p.Pro156Thr	missense variant	-	NC_000007.14:g.15685937G>T	ExAC,gnomAD
rs751911345	p.Pro156Leu	missense variant	-	NC_000007.14:g.15685936G>A	ExAC,gnomAD
rs1421793823	p.Ala157Glu	missense variant	-	NC_000007.14:g.15685933G>T	TOPMed,gnomAD
rs1421793823	p.Ala157Val	missense variant	-	NC_000007.14:g.15685933G>A	TOPMed,gnomAD
rs201879229	p.Glu158Lys	missense variant	-	NC_000007.14:g.15685931C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs577801614	p.Ala159Glu	missense variant	-	NC_000007.14:g.15685927G>T	ExAC,TOPMed,gnomAD
rs1370737581	p.Glu160Asp	missense variant	-	NC_000007.14:g.15685923C>G	gnomAD
COSM3305973	p.Arg162Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685918C>T	NCI-TCGA Cosmic
rs765404239	p.Ser163Ile	missense variant	-	NC_000007.14:g.15685915C>A	ExAC,TOPMed,gnomAD
rs765404239	p.Ser163Asn	missense variant	-	NC_000007.14:g.15685915C>T	ExAC,TOPMed,gnomAD
COSM3879834	p.Ser163Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685914G>T	NCI-TCGA Cosmic
rs141784602	p.Gly164Ser	missense variant	-	NC_000007.14:g.15685913C>T	ESP
rs373439702	p.Gly165Cys	missense variant	-	NC_000007.14:g.15685910C>A	ESP,ExAC,TOPMed,gnomAD
rs373439702	p.Gly165Ser	missense variant	-	NC_000007.14:g.15685910C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys166Asn	missense variant	-	NC_000007.14:g.15685905C>G	NCI-TCGA
rs1297638941	p.Lys166Glu	missense variant	-	NC_000007.14:g.15685907T>C	TOPMed
rs906697453	p.Lys168Glu	missense variant	-	NC_000007.14:g.15685901T>C	TOPMed
NCI-TCGA novel	p.Asp170Asn	missense variant	-	NC_000007.14:g.15685895C>T	NCI-TCGA
rs1338195952	p.Asp170Tyr	missense variant	-	NC_000007.14:g.15685895C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser172Ter	stop gained	-	NC_000007.14:g.15685888G>C	NCI-TCGA
rs1202879133	p.Asp173Glu	missense variant	-	NC_000007.14:g.15626917G>C	TOPMed,gnomAD
rs776056051	p.Ser174Thr	missense variant	-	NC_000007.14:g.15626916A>T	ExAC
rs1172769653	p.Ser174Phe	missense variant	-	NC_000007.14:g.15626915G>A	gnomAD
rs746619188	p.Gln175His	missense variant	-	NC_000007.14:g.15626911C>A	ExAC,gnomAD
rs770604890	p.Gln175Arg	missense variant	-	NC_000007.14:g.15626912T>C	ExAC,gnomAD
rs746619188	p.Gln175His	missense variant	-	NC_000007.14:g.15626911C>A	NCI-TCGA,NCI-TCGA Cosmic
COSM1449650	p.Gln175Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626912T>A	NCI-TCGA Cosmic
COSM3778277	p.Gln175Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626913G>A	NCI-TCGA Cosmic
rs867233014	p.Gly177Glu	missense variant	-	NC_000007.14:g.15626906C>T	-
rs867233014	p.Gly177Glu	missense variant	-	NC_000007.14:g.15626906C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn178His	missense variant	-	NC_000007.14:g.15626904T>G	NCI-TCGA
rs777256420	p.Asn178Lys	missense variant	-	NC_000007.14:g.15626902A>C	ExAC,TOPMed,gnomAD
rs1208884092	p.Ser181Ala	missense variant	-	NC_000007.14:g.15626895A>C	gnomAD
rs371557289	p.Glu182Val	missense variant	-	NC_000007.14:g.15626891T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val183Asp	missense variant	-	NC_000007.14:g.15626888A>T	NCI-TCGA
rs779485604	p.Val183Leu	missense variant	-	NC_000007.14:g.15626889C>G	ExAC,gnomAD
rs1457132453	p.Val183Ala	missense variant	-	NC_000007.14:g.15626888A>G	gnomAD
rs569517497	p.Asn184Asp	missense variant	-	NC_000007.14:g.15626886T>C	gnomAD
NCI-TCGA novel	p.Lys186Asn	missense variant	-	NC_000007.14:g.15626878T>A	NCI-TCGA
rs755468003	p.Pro187Ser	missense variant	-	NC_000007.14:g.15626877G>A	ExAC,gnomAD
COSM452787	p.Arg191Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626864C>T	NCI-TCGA Cosmic
COSM3431419	p.Glu197Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626847C>A	NCI-TCGA Cosmic
rs1415758190	p.Arg200Thr	missense variant	-	NC_000007.14:g.15626837C>G	gnomAD
NCI-TCGA novel	p.Glu201Asp	missense variant	-	NC_000007.14:g.15626833T>G	NCI-TCGA
rs1422660119	p.Glu201Gln	missense variant	-	NC_000007.14:g.15626835C>G	gnomAD
COSM1087892	p.Glu201Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626835C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu202Pro	missense variant	-	NC_000007.14:g.15626831A>G	NCI-TCGA
rs1171435810	p.Glu203Lys	missense variant	-	NC_000007.14:g.15626829C>T	gnomAD
rs375199918	p.Ala204Val	missense variant	-	NC_000007.14:g.15626825G>A	ExAC,TOPMed,gnomAD
rs1381670709	p.Glu205Lys	missense variant	-	NC_000007.14:g.15626823C>T	gnomAD
rs1176701460	p.Ala207Ser	missense variant	-	NC_000007.14:g.15626817C>A	gnomAD
rs762865770	p.Ala207Val	missense variant	-	NC_000007.14:g.15626816G>A	ExAC,TOPMed,gnomAD
rs765228491	p.His208Tyr	missense variant	-	NC_000007.14:g.15626814G>A	ExAC,TOPMed,gnomAD
rs1444300032	p.His208Pro	missense variant	-	NC_000007.14:g.15626813T>G	gnomAD
rs1404029442	p.Asn210Ser	missense variant	-	NC_000007.14:g.15626807T>C	TOPMed
rs574755420	p.Arg216Ser	missense variant	-	NC_000007.14:g.15626788C>A	1000Genomes,ExAC,gnomAD
rs1337968469	p.Arg216Lys	missense variant	-	NC_000007.14:g.15626789C>T	TOPMed
rs760169461	p.Arg217Gln	missense variant	-	NC_000007.14:g.15626786C>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr218Ter	stop gained	-	NC_000007.14:g.15626782G>C	NCI-TCGA
NCI-TCGA novel	p.Glu219Ter	stop gained	-	NC_000007.14:g.15626781C>A	NCI-TCGA
rs1237411895	p.Glu219Asp	missense variant	-	NC_000007.14:g.15626779C>G	TOPMed
COSM3636734	p.Glu219Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626781C>T	NCI-TCGA Cosmic
rs1237411895	p.Glu219Asp	missense variant	-	NC_000007.14:g.15626779C>G	NCI-TCGA
NCI-TCGA novel	p.Ala221Thr	missense variant	-	NC_000007.14:g.15626775C>T	NCI-TCGA
rs1357838190	p.Asn223Lys	missense variant	-	NC_000007.14:g.15626767A>C	gnomAD
rs1228439600	p.Leu226Val	missense variant	-	NC_000007.14:g.15626760G>C	gnomAD
COSM3636727	p.Phe235Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612598A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln236Leu	missense variant	-	NC_000007.14:g.15612595T>A	NCI-TCGA
NCI-TCGA novel	p.Asn237Ser	missense variant	-	NC_000007.14:g.15612592T>C	NCI-TCGA
rs1320459432	p.Arg239Gln	missense variant	-	NC_000007.14:g.15612586C>T	gnomAD
NCI-TCGA novel	p.Met240Ile	missense variant	-	NC_000007.14:g.15612582C>A	NCI-TCGA
rs770357034	p.Arg244Thr	missense variant	-	NC_000007.14:g.15612571C>G	ExAC,gnomAD
COSM745721	p.Arg244Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612571C>A	NCI-TCGA Cosmic
rs745972052	p.Val245Glu	missense variant	-	NC_000007.14:g.15612568A>T	ExAC,gnomAD
rs781080966	p.Lys246Met	missense variant	-	NC_000007.14:g.15612565T>A	ExAC
rs1364657336	p.Lys246Asn	missense variant	-	NC_000007.14:g.15612564C>A	TOPMed
rs757528173	p.Gly247Asp	missense variant	-	NC_000007.14:g.15612562C>T	ExAC,gnomAD
rs180977090	p.Gly247Cys	missense variant	-	NC_000007.14:g.15612563C>A	1000Genomes,TOPMed,gnomAD
rs180977090	p.Gly247Ser	missense variant	-	NC_000007.14:g.15612563C>T	1000Genomes,TOPMed,gnomAD
rs180977090	p.Gly247Ser	missense variant	-	NC_000007.14:g.15612563C>T	NCI-TCGA Cosmic
rs747232554	p.Gln249Arg	missense variant	-	NC_000007.14:g.15612556T>C	ExAC,gnomAD
rs1434135679	p.Gln250Arg	missense variant	-	NC_000007.14:g.15612553T>C	gnomAD
rs1170929765	p.Gly251Glu	missense variant	-	NC_000007.14:g.15612550C>T	TOPMed
rs545741824	p.Ala252Val	missense variant	-	NC_000007.14:g.15612547G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766320553	p.Ala253Gly	missense variant	-	NC_000007.14:g.15612544G>C	ExAC,TOPMed,gnomAD
rs766320553	p.Ala253Glu	missense variant	-	NC_000007.14:g.15612544G>T	ExAC,TOPMed,gnomAD
rs766320553	p.Ala253Val	missense variant	-	NC_000007.14:g.15612544G>A	ExAC,TOPMed,gnomAD
rs766320553	p.Ala253Val	missense variant	-	NC_000007.14:g.15612544G>A	NCI-TCGA
NCI-TCGA novel	p.Ala254Thr	missense variant	-	NC_000007.14:g.15612542C>T	NCI-TCGA
rs749981181	p.Ala254Pro	missense variant	-	NC_000007.14:g.15612542C>G	ExAC,gnomAD
rs1168791518	p.Ala254Val	missense variant	-	NC_000007.14:g.15612541G>A	TOPMed,gnomAD
rs868107417	p.Arg255Trp	missense variant	-	NC_000007.14:g.15612539G>A	-
rs766976920	p.Arg255Pro	missense variant	-	NC_000007.14:g.15612538C>G	ExAC,TOPMed,gnomAD
rs868107417	p.Arg255Trp	missense variant	-	NC_000007.14:g.15612539G>A	NCI-TCGA Cosmic
COSM3636724	p.Glu256Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612536C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys257Asn	missense variant	-	NC_000007.14:g.15612531C>G	NCI-TCGA
rs1017579866	p.Lys257Glu	missense variant	-	NC_000007.14:g.15612533T>C	TOPMed
rs1425893870	p.Glu258Gln	missense variant	-	NC_000007.14:g.15612530C>G	gnomAD
COSM3636723	p.Glu258Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612530C>T	NCI-TCGA Cosmic
rs1193001492	p.Leu259Met	missense variant	-	NC_000007.14:g.15612527G>T	gnomAD
rs1025681387	p.Asn261Lys	missense variant	-	NC_000007.14:g.15612519A>C	TOPMed
rs1269600571	p.Val262Glu	missense variant	-	NC_000007.14:g.15612517A>T	TOPMed,gnomAD
rs1208906945	p.Lys263Glu	missense variant	-	NC_000007.14:g.15612515T>C	gnomAD
NCI-TCGA novel	p.Lys264Thr	missense variant	-	NC_000007.14:g.15612511T>G	NCI-TCGA
rs1199873948	p.Gly265Arg	missense variant	-	NC_000007.14:g.15612509C>G	gnomAD
COSM452784	p.Gly265Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612508C>T	NCI-TCGA Cosmic
rs761365312	p.Pro269Leu	missense variant	-	NC_000007.14:g.15612496G>A	ExAC,gnomAD
rs1230563691	p.Pro269Ala	missense variant	-	NC_000007.14:g.15612497G>C	TOPMed
COSM1312912	p.Ser270Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15612493G>C	NCI-TCGA Cosmic
rs773932247	p.Glu271Asp	missense variant	-	NC_000007.14:g.15612489C>G	ExAC,TOPMed,gnomAD
COSM4164228	p.Ser273Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612484G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly274Arg	missense variant	-	NC_000007.14:g.15612482C>G	NCI-TCGA
rs763413946	p.Ile275Thr	missense variant	-	NC_000007.14:g.15612478A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala277Ser	missense variant	-	NC_000007.14:g.15612473C>A	NCI-TCGA
rs559883085	p.Ala278Thr	missense variant	-	NC_000007.14:g.15612470C>T	gnomAD
COSM3832410	p.Thr279Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612466G>A	NCI-TCGA Cosmic
rs770444784	p.Leu280His	missense variant	-	NC_000007.14:g.15612463A>T	ExAC,TOPMed,gnomAD
rs760797306	p.Gln282Glu	missense variant	-	NC_000007.14:g.15612458G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr283Ala	missense variant	-	NC_000007.14:g.15612455T>C	NCI-TCGA
COSM6109446	p.Gly284Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612451C>T	NCI-TCGA Cosmic
rs1360003634	p.Asp285Glu	missense variant	-	NC_000007.14:g.15612447G>C	TOPMed,gnomAD
rs372193299	p.Asp285Val	missense variant	-	NC_000007.14:g.15612448T>A	ESP,ExAC,gnomAD
rs747111834	p.Ser286Cys	missense variant	-	NC_000007.14:g.15612445G>C	ExAC,gnomAD
rs556698927	p.Ile287Thr	missense variant	-	NC_000007.14:g.15612442A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs2237493	p.Ile287Val	missense variant	-	NC_000007.14:g.15612443T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2237493	p.Ile287Leu	missense variant	-	NC_000007.14:g.15612443T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2237493	p.Ile287Leu	missense variant	-	NC_000007.14:g.15612443T>G	UniProt,dbSNP
VAR_049585	p.Ile287Leu	missense variant	-	NC_000007.14:g.15612443T>G	UniProt
rs779787403	p.Ala288Thr	missense variant	-	NC_000007.14:g.15612440C>T	ExAC,TOPMed,gnomAD
rs755907175	p.Ala288Val	missense variant	-	NC_000007.14:g.15612439G>A	ExAC
rs1442146315	p.Asn289Asp	missense variant	-	NC_000007.14:g.15612437T>C	TOPMed,gnomAD
rs1299134267	p.Asn289Thr	missense variant	-	NC_000007.14:g.15612436T>G	TOPMed
rs1384731038	p.Asp291Glu	missense variant	-	NC_000007.14:g.15612429G>C	TOPMed
rs542023498	p.Asp291Asn	missense variant	-	NC_000007.14:g.15612431C>T	1000Genomes,ExAC,gnomAD
rs781176015	p.Ser292Thr	missense variant	-	NC_000007.14:g.15612427C>G	ExAC
rs1302872970	p.His293Arg	missense variant	-	NC_000007.14:g.15612424T>C	TOPMed
rs1257373079	p.Asp294Asn	missense variant	-	NC_000007.14:g.15612422C>T	TOPMed,gnomAD
rs1257373079	p.Asp294His	missense variant	-	NC_000007.14:g.15612422C>G	TOPMed,gnomAD
rs751045886	p.Asp296Asn	missense variant	-	NC_000007.14:g.15612416C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser298Ile	missense variant	-	NC_000007.14:g.15612409C>A	NCI-TCGA
rs762643578	p.Ser298Asn	missense variant	-	NC_000007.14:g.15612409C>T	ExAC,gnomAD
rs763851326	p.Ser298Gly	missense variant	-	NC_000007.14:g.15612410T>C	ExAC,gnomAD
rs1305980870	p.Glu300Asp	missense variant	-	NC_000007.14:g.15612402C>A	gnomAD
rs1381131517	p.Ala302Glu	missense variant	-	NC_000007.14:g.15612397G>T	TOPMed,gnomAD
rs1381131517	p.Ala302Gly	missense variant	-	NC_000007.14:g.15612397G>C	TOPMed,gnomAD
COSM6176994	p.Ala302Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612398C>A	NCI-TCGA Cosmic
COSM1312911	p.His303Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612395G>A	NCI-TCGA Cosmic
rs1433164382	p.Ter305Arg	stop lost	-	NC_000007.14:g.15612389A>G	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE;LHGDN
C0002726	Amyloidosis	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025312	Meningomyelocele	disease	BEFREE
C0151744	Myocardial Ischemia	disease	CTD_human
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0520679	Sleep Apnea, Obstructive	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C4285910	Obstructive sleep apnea hypopnea syndrome	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IMP
GO:0043565	sequence-specific DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	IEA
GO:0001757	somite specification	IEA
GO:0007275	multicellular organism development	TAS
GO:0007519	skeletal muscle tissue development	IEA
GO:0008015	blood circulation	TAS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0060021	roof of mouth development	IEA
GO:0060173	limb development	IEA
GO:0061053	somite development	IBA
GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis	IGI

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0016607	nuclear speck	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of MEOX2 mRNA	24810058
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of MEOX2 mRNA	25380136; 30723492;
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of MEOX2 mRNA	20959002
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C585004	2-monochloropropanediol	2-monochloropropanediol results in decreased expression of MEOX2 mRNA	28522335
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of MEOX2 mRNA	25380136
D000082	Acetaminophen	Acetaminophen affects the expression of MEOX2 mRNA	25064622
D000082	Acetaminophen	Acetaminophen results in decreased expression of MEOX2 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MEOX2 gene	27153756
C040534	alpha-hexachlorocyclohexane	alpha-hexachlorocyclohexane results in increased expression of MEOX2 mRNA	17785943
D000638	Amiodarone	Amiodarone affects the expression of MEOX2 mRNA	25064622
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MEOX2 mRNA	16483693
C059765	amphotericin B, deoxycholate drug combination	amphotericin B, deoxycholate drug combination results in decreased expression of MEOX2 mRNA	22863853
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of MEOX2 mRNA	24449571
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of MEOX2 mRNA	18164116
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MEOX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of MEOX2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of MEOX2 mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased expression of MEOX2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of MEOX2 mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of MEOX2 mRNA	30951980
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of MEOX2 mRNA	30723492
D002713	Chlorine	Chlorine affects the expression of MEOX2 mRNA	18636392
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of MEOX2 mRNA	18636392
D002737	Chloroprene	Chloroprene results in decreased expression of MEOX2 mRNA	23125180
D002746	Chlorpromazine	Chlorpromazine affects the expression of MEOX2 mRNA	25064622
D003471	Cuprizone	Cuprizone results in decreased expression of MEOX2 mRNA	26577399
D016572	Cyclosporine	Cyclosporine affects the expression of MEOX2 mRNA	25064622
D000077209	Decitabine	Decitabine results in increased expression of MEOX2 mRNA	27915011
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MEOX2 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in increased expression of MEOX2 mRNA	18042831
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of MEOX2 mRNA	18164116
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of MEOX2 mRNA	19638242
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of MEOX2 mRNA	15591538
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of MEOX2 mRNA	21658437
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of MEOX2 mRNA	25380136
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of MEOX2 mRNA	12655031
D004958	Estradiol	Estradiol results in increased expression of MEOX2 mRNA	25878060
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of MEOX2 mRNA	25064622
C039281	furan	furan results in decreased expression of MEOX2 mRNA	25539665; 26194646;
C004312	glycidol	glycidol results in decreased expression of MEOX2 mRNA	24915197
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane results in decreased expression of MEOX2 mRNA	17785943
D008558	Melphalan	Melphalan results in decreased expression of MEOX2 mRNA	22363485
D015122	Mercaptopurine	Mercaptopurine results in decreased expression of MEOX2 mRNA	23358152
D008628	Mercury	Mercury results in increased expression of MEOX2 mRNA	16823088
D008917	Mirex	Mirex results in increased expression of MEOX2 mRNA	23153324
D009151	Mustard Gas	Mustard Gas results in increased expression of MEOX2 mRNA	15674843
D019829	Nevirapine	Nevirapine results in increased expression of MEOX2 mRNA	23947594
D009532	Nickel	Nickel results in decreased expression of MEOX2 mRNA	12540486
D010100	Oxygen	Oxygen deficiency results in decreased expression of MEOX2 mRNA	26516004
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of MEOX2 mRNA	30529165
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of MEOX2 mRNA	18636392
D000073878	Palm Oil	Palm Oil results in increased expression of MEOX2 mRNA	18042831
D010269	Paraquat	Paraquat affects the expression of MEOX2 mRNA	25064622
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MEOX2 mRNA	25510870
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in decreased expression of MEOX2 mRNA	26705709
D010634	Phenobarbital	Phenobarbital results in increased expression of MEOX2 mRNA	19162173
C006253	pirinixic acid	pirinixic acid results in increased expression of MEOX2 mRNA	20813756
C006253	pirinixic acid	pirinixic acid results in decreased expression of MEOX2 mRNA	19162173
D059808	Polyphenols	Polyphenols results in decreased expression of MEOX2 mRNA	16293270
D011441	Propylthiouracil	Propylthiouracil results in increased expression of MEOX2 mRNA	24780913
C116926	rofecoxib	rofecoxib results in decreased expression of MEOX2 mRNA	17070997
C016104	sodium bichromate	sodium bichromate results in decreased expression of MEOX2 mRNA	25993096
C041711	St. Thomas' Hospital cardioplegic solution	St. Thomas' Hospital cardioplegic solution results in decreased expression of MEOX2 mRNA	16214533
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of MEOX2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MEOX2 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MEOX2 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MEOX2 mRNA	21215274
D013752	Tetracycline	Tetracycline affects the expression of MEOX2 mRNA	25064622
D013755	Tetradecanoylphorbol Acetate	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of MEOX2 mRNA	16979875
D013853	Thioacetamide	Thioacetamide affects the expression of MEOX2 mRNA	25064622
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of MEOX2 mRNA	28111298
D014212	Tretinoin	Tretinoin results in increased expression of MEOX2 mRNA	21934132
C011559	tributyltin	tributyltin results in decreased expression of MEOX2 mRNA	27614199
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of MEOX2 mRNA	19042947
D000077288	Troglitazone	Troglitazone results in decreased expression of MEOX2 mRNA	28973697
C406224	valdecoxib	valdecoxib results in increased expression of MEOX2 mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of MEOX2 mRNA	25064622
D014635	Valproic Acid	Valproic Acid affects the expression of MEOX2 mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in increased expression of MEOX2 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of MEOX2 gene	25560391
D015032	Zinc	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of MEOX2 mRNA	16979875

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0217	Developmental protein
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
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa
IPR042634	MOX-1/MOX-2

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: MEOX2

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

Protein-miRNA interaction