CleftGeneDB-Search

Gene: HOXB7

Basic information

Tag	Content
Uniprot ID	P09629; A8K3N8; Q15957; Q53FN3; Q96BQ6;
Entrez ID	3217
Genbank protein ID	BAF83342.1; EAW94725.1; BAD96969.1; AAH15345.1; AAB19469.2; AAA36003.1; AAA36005.1;
Genbank nucleotide ID	NM_004502.3
Ensembl protein ID	ENSP00000239165
Ensembl nucleotide ID	ENSG00000260027
Gene name	Homeobox protein Hox-B7
Gene symbol	HOXB7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Sequence	MSSLYYANTL FSKYPASSSV FATGAFPEQT SCAFASNPQR PGYGAGSGAS FAASMQGLYP 60 GGGGMAGQSA AGVYAAGYGL EPSSFNMHCA PFEQNLSGVC PGDSAKAAGA KEQRDSDLAA 120 ESNFRIYPWM RSSGTDRKRG RQTYTRYQTL ELEKEFHYNR YLTRRRRIEI AHTLCLTERQ 180 IKIWFQNRRM KWKKENKTAG PGTTGQDRAE AEEEEEE 217

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	HOXB7		F1N1K1		Bos taurus	Prediction	More>>
1:1 ortholog	HOXB7	608962	F6UVS6		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HOXB7	102168764	A0A452F107		Capra hircus	Prediction	More>>
1:1 ortholog	HOXB7	100146931	F7AGE2		Equus caballus	Prediction	More>>
1:1 ortholog	HOXB7	3217	P09629		Homo sapiens	Prediction	More>>
1:1 ortholog	Hoxb7	15415	P09024	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HOXB7	455191	H2QDC3		Pan troglodytes	Prediction	More>>
1:1 ortholog	HOXB7	100522513	F1RWG2		Sus scrofa	Prediction	More>>
1:1 ortholog	Hoxb7	497985	P18864		Rattus norvegicus	Prediction	More>>
1:1 ortholog	hoxb7a	58044	Q8AWY9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs763954258	p.Tyr6Ter	stop gained	-	NC_000017.11:g.48610901A>T	ExAC,gnomAD
rs556138860	p.Tyr6Ser	missense variant	-	NC_000017.11:g.48610902T>G	1000Genomes
rs763009085	p.Ala7Glu	missense variant	-	NC_000017.11:g.48610899G>T	ExAC
rs7406910	p.Thr9Ala	missense variant	-	NC_000017.11:g.48610894T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1029242526	p.Leu10Phe	missense variant	-	NC_000017.11:g.48610889T>G	TOPMed
NCI-TCGA novel	p.Ser12Tyr	missense variant	-	NC_000017.11:g.48610884G>T	NCI-TCGA
rs1190787051	p.Pro15Thr	missense variant	-	NC_000017.11:g.48610876G>T	TOPMed
rs368160113	p.Ala16Pro	missense variant	-	NC_000017.11:g.48610873C>G	ESP,ExAC,gnomAD
rs149621604	p.Ser17Leu	missense variant	-	NC_000017.11:g.48610869G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139369803	p.Ser19Leu	missense variant	-	NC_000017.11:g.48610863G>A	ESP,ExAC,TOPMed,gnomAD
rs1326010076	p.Ala22Val	missense variant	-	NC_000017.11:g.48610854G>A	TOPMed
NCI-TCGA novel	p.Gly24Ala	missense variant	-	NC_000017.11:g.48610848C>G	NCI-TCGA
NCI-TCGA novel	p.Gly24Glu	missense variant	-	NC_000017.11:g.48610848C>T	NCI-TCGA
rs547407382	p.Phe26Leu	missense variant	-	NC_000017.11:g.48610841G>T	1000Genomes,ExAC,gnomAD
rs999990339	p.Phe26Leu	missense variant	-	NC_000017.11:g.48610843A>G	TOPMed
NCI-TCGA novel	p.Ser31Tyr	missense variant	-	NC_000017.11:g.48610827G>T	NCI-TCGA
rs748728131	p.Ser31Phe	missense variant	-	NC_000017.11:g.48610827G>A	ExAC,gnomAD
rs879394029	p.Ser31Pro	missense variant	-	NC_000017.11:g.48610828A>G	TOPMed,gnomAD
rs755640117	p.Cys32Ser	missense variant	-	NC_000017.11:g.48610824C>G	ExAC,gnomAD
rs779513387	p.Cys32Arg	missense variant	-	NC_000017.11:g.48610825A>G	ExAC,TOPMed,gnomAD
rs779513387	p.Cys32Gly	missense variant	-	NC_000017.11:g.48610825A>C	ExAC,TOPMed,gnomAD
rs750034805	p.Ala33Val	missense variant	-	NC_000017.11:g.48610821G>A	ExAC,gnomAD
rs1340598461	p.Phe34Ser	missense variant	-	NC_000017.11:g.48610818A>G	TOPMed
NCI-TCGA novel	p.Ser36Phe	missense variant	-	NC_000017.11:g.48610812G>A	NCI-TCGA
rs1402277716	p.Asn37Lys	missense variant	-	NC_000017.11:g.48610808G>C	TOPMed,gnomAD
rs1402277716	p.Asn37Lys	missense variant	-	NC_000017.11:g.48610808G>T	TOPMed,gnomAD
rs757022553	p.Pro38Arg	missense variant	-	NC_000017.11:g.48610806G>C	ExAC
rs764020792	p.Arg40Cys	missense variant	-	NC_000017.11:g.48610801G>A	ExAC,gnomAD
rs758241276	p.Arg40His	missense variant	-	NC_000017.11:g.48610800C>T	ExAC,TOPMed,gnomAD
rs1478331928	p.Pro41Leu	missense variant	-	NC_000017.11:g.48610797G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly42Asp	missense variant	-	NC_000017.11:g.48610794C>T	NCI-TCGA
rs1237310201	p.Tyr43Cys	missense variant	-	NC_000017.11:g.48610791T>C	gnomAD
rs752732108	p.Tyr43Ter	stop gained	-	NC_000017.11:g.48610790A>T	ExAC,gnomAD
rs765359875	p.Gly44Glu	missense variant	-	NC_000017.11:g.48610788C>T	ExAC,gnomAD
rs1257125887	p.Ala45Ser	missense variant	-	NC_000017.11:g.48610786C>A	TOPMed,gnomAD
rs1257125887	p.Ala45Thr	missense variant	-	NC_000017.11:g.48610786C>T	TOPMed,gnomAD
rs1198020877	p.Gly46Ser	missense variant	-	NC_000017.11:g.48610783C>T	gnomAD
rs79247310	p.Ala49Val	missense variant	-	NC_000017.11:g.48610773G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473436633	p.Ala49Thr	missense variant	-	NC_000017.11:g.48610774C>T	TOPMed
rs1473436633	p.Ala49Ser	missense variant	-	NC_000017.11:g.48610774C>A	TOPMed
rs766495520	p.Ala52Thr	missense variant	-	NC_000017.11:g.48610765C>T	ExAC,TOPMed,gnomAD
rs200232244	p.Ala52Val	missense variant	-	NC_000017.11:g.48610764G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330282869	p.Ala53Ser	missense variant	-	NC_000017.11:g.48610762C>A	gnomAD
rs201497048	p.Ala53Asp	missense variant	-	NC_000017.11:g.48610761G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201497048	p.Ala53Val	missense variant	-	NC_000017.11:g.48610761G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748601632	p.Ser54Trp	missense variant	-	NC_000017.11:g.48610758G>C	ExAC,TOPMed,gnomAD
rs748601632	p.Ser54Ter	stop gained	-	NC_000017.11:g.48610758G>T	ExAC,TOPMed,gnomAD
rs774868007	p.Gly57Cys	missense variant	-	NC_000017.11:g.48610750C>A	ExAC,TOPMed,gnomAD
rs199853122	p.Leu58Phe	missense variant	-	NC_000017.11:g.48610745C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1473984230	p.Leu58Ser	missense variant	-	NC_000017.11:g.48610746A>G	gnomAD
rs756859924	p.Tyr59Phe	missense variant	-	NC_000017.11:g.48610743T>A	ExAC,TOPMed,gnomAD
rs1286455108	p.Pro60Ser	missense variant	-	NC_000017.11:g.48610741G>A	TOPMed
rs2303483	p.Gly62Ala	missense variant	-	NC_000017.11:g.48610734C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs2303483	p.Gly62Glu	missense variant	-	NC_000017.11:g.48610734C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777408517	p.Gly62Arg	missense variant	-	NC_000017.11:g.48610735C>G	ExAC,gnomAD
rs2303483	p.Gly62Val	missense variant	-	NC_000017.11:g.48610734C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs938327408	p.Gly63Arg	missense variant	-	NC_000017.11:g.48610732C>T	gnomAD
rs938327408	p.Gly63Arg	missense variant	-	NC_000017.11:g.48610732C>G	gnomAD
rs201998748	p.Gly64Val	missense variant	-	NC_000017.11:g.48610728C>A	1000Genomes,TOPMed,gnomAD
rs182239380	p.Gly64Cys	missense variant	-	NC_000017.11:g.48610729C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201998748	p.Gly64Ala	missense variant	-	NC_000017.11:g.48610728C>G	1000Genomes,TOPMed,gnomAD
rs182239380	p.Gly64Ser	missense variant	-	NC_000017.11:g.48610729C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs182239380	p.Gly64Arg	missense variant	-	NC_000017.11:g.48610729C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1237563412	p.Met65Ile	missense variant	-	NC_000017.11:g.48610724C>T	gnomAD
rs113225716	p.Ala66Glu	missense variant	-	NC_000017.11:g.48610722G>T	gnomAD
rs113225716	p.Ala66Gly	missense variant	-	NC_000017.11:g.48610722G>C	gnomAD
rs200263899	p.Ala66Ser	missense variant	-	NC_000017.11:g.48610723C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1335616544	p.Gln68His	missense variant	-	NC_000017.11:g.48610715C>G	TOPMed
NCI-TCGA novel	p.Ala70Thr	missense variant	-	NC_000017.11:g.48610711C>T	NCI-TCGA
rs773501461	p.Ala70Val	missense variant	-	NC_000017.11:g.48610710G>A	ExAC,gnomAD
rs773501461	p.Ala70Gly	missense variant	-	NC_000017.11:g.48610710G>C	ExAC,gnomAD
rs958038116	p.Val73Ala	missense variant	-	NC_000017.11:g.48610701A>G	TOPMed
rs1158248600	p.Tyr74Cys	missense variant	-	NC_000017.11:g.48610698T>C	gnomAD
rs762166968	p.Ala75Gly	missense variant	-	NC_000017.11:g.48610695G>C	ExAC,gnomAD
rs774778475	p.Ala76Asp	missense variant	-	NC_000017.11:g.48610692G>T	ExAC,gnomAD
COSM3989101	p.Gly77Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48610690C>T	NCI-TCGA Cosmic
rs1477747847	p.Gly77Ala	missense variant	-	NC_000017.11:g.48610689C>G	gnomAD
rs35657716	p.Tyr78Cys	missense variant	-	NC_000017.11:g.48610686T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1238280529	p.Tyr78Asp	missense variant	-	NC_000017.11:g.48610687A>C	TOPMed
rs758201923	p.Glu81Gln	missense variant	-	NC_000017.11:g.48610678C>G	ExAC,gnomAD
rs758201923	p.Glu81Lys	missense variant	-	NC_000017.11:g.48610678C>T	ExAC,gnomAD
rs1218073773	p.Pro82Leu	missense variant	-	NC_000017.11:g.48610674G>A	gnomAD
rs1013375252	p.Pro82Ser	missense variant	-	NC_000017.11:g.48610675G>A	TOPMed
rs1244208312	p.Ser84Phe	missense variant	-	NC_000017.11:g.48610668G>A	gnomAD
rs747971404	p.Phe85Leu	missense variant	-	NC_000017.11:g.48610664G>T	ExAC,TOPMed,gnomAD
rs1179766644	p.Met87Thr	missense variant	-	NC_000017.11:g.48610659A>G	TOPMed
rs1298042676	p.Met87Val	missense variant	-	NC_000017.11:g.48610660T>C	gnomAD
rs754932765	p.Cys89Arg	missense variant	-	NC_000017.11:g.48610654A>G	ExAC,gnomAD
rs753873930	p.Pro91Ser	missense variant	-	NC_000017.11:g.48610648G>A	ExAC,gnomAD
rs779948502	p.Glu93Gly	missense variant	-	NC_000017.11:g.48610641T>C	ExAC
rs756244790	p.Leu96Phe	missense variant	-	NC_000017.11:g.48610633G>A	ExAC,TOPMed,gnomAD
rs867468546	p.Gly98Arg	missense variant	-	NC_000017.11:g.48610627C>T	TOPMed,gnomAD
rs867468546	p.Gly98Trp	missense variant	-	NC_000017.11:g.48610627C>A	TOPMed,gnomAD
rs750541131	p.Cys100Ser	missense variant	-	NC_000017.11:g.48610620C>G	ExAC,TOPMed,gnomAD
rs767791763	p.Asp103Ala	missense variant	-	NC_000017.11:g.48610611T>G	ExAC,gnomAD
rs1331902913	p.Ala105Val	missense variant	-	NC_000017.11:g.48610605G>A	TOPMed
rs1286233856	p.Ala108Val	missense variant	-	NC_000017.11:g.48610596G>A	TOPMed,gnomAD
rs1286233856	p.Ala108Glu	missense variant	-	NC_000017.11:g.48610596G>T	TOPMed,gnomAD
rs1209031456	p.Gly109Asp	missense variant	-	NC_000017.11:g.48610593C>T	gnomAD
rs762082637	p.Lys111Glu	missense variant	-	NC_000017.11:g.48610588T>C	ExAC,gnomAD
rs1331947444	p.Glu112Lys	missense variant	-	NC_000017.11:g.48610585C>T	TOPMed
rs751919858	p.Gln113Arg	missense variant	-	NC_000017.11:g.48610581T>C	ExAC,TOPMed,gnomAD
rs1346621949	p.Arg114Lys	missense variant	-	NC_000017.11:g.48610578C>T	TOPMed,gnomAD
rs764486673	p.Asp115Glu	missense variant	-	NC_000017.11:g.48610574G>C	ExAC,gnomAD
rs377243732	p.Ser116Trp	missense variant	-	NC_000017.11:g.48610572G>C	ESP,ExAC,TOPMed,gnomAD
rs377243732	p.Ser116Leu	missense variant	-	NC_000017.11:g.48610572G>A	ESP,ExAC,TOPMed,gnomAD
rs763432211	p.Ser116Pro	missense variant	-	NC_000017.11:g.48610573A>G	ExAC,TOPMed,gnomAD
rs763432211	p.Ser116Ala	missense variant	-	NC_000017.11:g.48610573A>C	ExAC,TOPMed,gnomAD
rs2228185	p.Asp117Glu	missense variant	-	NC_000017.11:g.48610568G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1465775621	p.Ala119Glu	missense variant	-	NC_000017.11:g.48610563G>T	gnomAD
rs1178413203	p.Ala120Val	missense variant	-	NC_000017.11:g.48610560G>A	TOPMed,gnomAD
rs772684959	p.Ala120Thr	missense variant	-	NC_000017.11:g.48610561C>T	ExAC,gnomAD
rs1470348978	p.Glu121Gln	missense variant	-	NC_000017.11:g.48610558C>G	gnomAD
rs1007769481	p.Glu121Gly	missense variant	-	NC_000017.11:g.48610557T>C	TOPMed,gnomAD
rs1168479931	p.Ser122Thr	missense variant	-	NC_000017.11:g.48610554C>G	TOPMed,gnomAD
rs1168479931	p.Ser122Asn	missense variant	-	NC_000017.11:g.48610554C>T	TOPMed,gnomAD
rs556012769	p.Asn123Ser	missense variant	-	NC_000017.11:g.48610551T>C	1000Genomes,ExAC,gnomAD
rs904113580	p.Arg125Gly	missense variant	-	NC_000017.11:g.48610546G>C	gnomAD
rs536226659	p.Arg125Gln	missense variant	-	NC_000017.11:g.48610545C>T	1000Genomes,ExAC,gnomAD
rs768594534	p.Pro128Leu	missense variant	-	NC_000017.11:g.48610536G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg131Gln	missense variant	-	NC_000017.11:g.48610527C>T	NCI-TCGA
rs1238846693	p.Arg131Ter	stop gained	-	NC_000017.11:g.48610528G>A	gnomAD
rs749136655	p.Arg131Leu	missense variant	-	NC_000017.11:g.48610527C>A	ExAC,gnomAD
rs780042064	p.Ser132Asn	missense variant	-	NC_000017.11:g.48610524C>T	ExAC,TOPMed,gnomAD
rs756086451	p.Ser133Ter	stop gained	-	NC_000017.11:g.48610521G>C	ExAC,gnomAD
rs747192791	p.Asp136Asn	missense variant	-	NC_000017.11:g.48608090C>T	ExAC,gnomAD
rs200174441	p.Arg137Ser	missense variant	-	NC_000017.11:g.48608087G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200454962	p.Arg137His	missense variant	-	NC_000017.11:g.48608086C>T	1000Genomes
rs200174441	p.Arg137Gly	missense variant	-	NC_000017.11:g.48608087G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200174441	p.Arg137Cys	missense variant	-	NC_000017.11:g.48608087G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753094787	p.Lys138Arg	missense variant	-	NC_000017.11:g.48608083T>C	ExAC,gnomAD
COSM4930121	p.Arg139Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48608080C>T	NCI-TCGA Cosmic
rs765558409	p.Arg139Gly	missense variant	-	NC_000017.11:g.48608081G>C	ExAC,gnomAD
rs765558409	p.Arg139Ter	stop gained	-	NC_000017.11:g.48608081G>A	ExAC,gnomAD
rs1238714218	p.Gly140Ser	missense variant	-	NC_000017.11:g.48608078C>T	TOPMed
rs754323715	p.Arg141His	missense variant	-	NC_000017.11:g.48608074C>T	ExAC,gnomAD
rs755486920	p.Arg141Gly	missense variant	-	NC_000017.11:g.48608075G>C	ExAC,TOPMed,gnomAD
rs755486920	p.Arg141Cys	missense variant	-	NC_000017.11:g.48608075G>A	ExAC,TOPMed,gnomAD
rs1162096136	p.Thr143Ser	missense variant	-	NC_000017.11:g.48608069T>A	TOPMed
rs1408691774	p.Tyr144Cys	missense variant	-	NC_000017.11:g.48608065T>C	TOPMed
rs774086175	p.Arg146Leu	missense variant	-	NC_000017.11:g.48608059C>A	ExAC,TOPMed,gnomAD
rs774086175	p.Arg146His	missense variant	-	NC_000017.11:g.48608059C>T	ExAC,TOPMed,gnomAD
rs761408048	p.Arg146Cys	missense variant	-	NC_000017.11:g.48608060G>A	ExAC,TOPMed,gnomAD
rs761408048	p.Arg146Ser	missense variant	-	NC_000017.11:g.48608060G>T	ExAC,TOPMed,gnomAD
rs1281605432	p.Gln148His	missense variant	-	NC_000017.11:g.48608052C>A	gnomAD
rs1470435140	p.Gln148Glu	missense variant	-	NC_000017.11:g.48608054G>C	TOPMed
rs369415843	p.Leu150Met	missense variant	-	NC_000017.11:g.48608048G>T	ESP,ExAC,TOPMed,gnomAD
rs775327106	p.Glu151Gln	missense variant	-	NC_000017.11:g.48608045C>G	ExAC,gnomAD
rs1338921368	p.Leu152Val	missense variant	-	NC_000017.11:g.48608042G>C	TOPMed
rs1447439097	p.Glu153Gly	missense variant	-	NC_000017.11:g.48608038T>C	TOPMed
rs1242345046	p.Glu153Ter	stop gained	-	NC_000017.11:g.48608039C>A	gnomAD
NCI-TCGA novel	p.Glu155Ter	stop gained	-	NC_000017.11:g.48608033C>A	NCI-TCGA
NCI-TCGA novel	p.Glu155Gly	missense variant	-	NC_000017.11:g.48608032T>C	NCI-TCGA
rs1012338358	p.Tyr158Asn	missense variant	-	NC_000017.11:g.48608024A>T	gnomAD
rs745772585	p.Tyr158Cys	missense variant	-	NC_000017.11:g.48608023T>C	ExAC,TOPMed,gnomAD
rs1392632509	p.Asn159Thr	missense variant	-	NC_000017.11:g.48608020T>G	TOPMed,gnomAD
rs1392632509	p.Asn159Ser	missense variant	-	NC_000017.11:g.48608020T>C	TOPMed,gnomAD
rs776585340	p.Asn159His	missense variant	-	NC_000017.11:g.48608021T>G	ExAC,gnomAD
rs770931876	p.Arg160Cys	missense variant	-	NC_000017.11:g.48608018G>A	ExAC,TOPMed
rs1418859054	p.Leu162Arg	missense variant	-	NC_000017.11:g.48608011A>C	gnomAD
rs777889579	p.Leu162Val	missense variant	-	NC_000017.11:g.48608012G>C	ExAC,gnomAD
rs1160058516	p.Thr163Met	missense variant	-	NC_000017.11:g.48608008G>A	gnomAD
NCI-TCGA novel	p.Arg164Trp	missense variant	-	NC_000017.11:g.48608006G>A	NCI-TCGA
rs533071036	p.Arg164Leu	missense variant	-	NC_000017.11:g.48608005C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779286425	p.Arg165Trp	missense variant	-	NC_000017.11:g.48608003G>A	ExAC,TOPMed,gnomAD
rs779286425	p.Arg165Gly	missense variant	-	NC_000017.11:g.48608003G>C	ExAC,TOPMed,gnomAD
rs755328654	p.Arg165Pro	missense variant	-	NC_000017.11:g.48608002C>G	ExAC,gnomAD
COSM4067391	p.Arg166Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48608000G>A	NCI-TCGA Cosmic
rs754330441	p.Arg166Gln	missense variant	-	NC_000017.11:g.48607999C>T	ExAC,TOPMed,gnomAD
rs1021711604	p.Arg167His	missense variant	-	NC_000017.11:g.48607996C>T	TOPMed
rs767002458	p.Arg167Ser	missense variant	-	NC_000017.11:g.48607997G>T	ExAC,gnomAD
rs767002458	p.Arg167Gly	missense variant	-	NC_000017.11:g.48607997G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile168Ser	missense variant	-	NC_000017.11:g.48607993A>C	NCI-TCGA
rs1473536987	p.Glu169Gln	missense variant	-	NC_000017.11:g.48607991C>G	TOPMed
rs762648399	p.Ala171Glu	missense variant	-	NC_000017.11:g.48607984G>T	ExAC,TOPMed,gnomAD
rs763554332	p.Ala171Thr	missense variant	-	NC_000017.11:g.48607985C>T	ExAC,TOPMed
rs762648399	p.Ala171Val	missense variant	-	NC_000017.11:g.48607984G>A	ExAC,TOPMed,gnomAD
rs1255427896	p.Thr173Arg	missense variant	-	NC_000017.11:g.48607978G>C	TOPMed,gnomAD
rs1255427896	p.Thr173Met	missense variant	-	NC_000017.11:g.48607978G>A	TOPMed,gnomAD
rs765046532	p.Cys175Tyr	missense variant	-	NC_000017.11:g.48607972C>T	ExAC,gnomAD
rs138865004	p.Thr177Lys	missense variant	-	NC_000017.11:g.48607966G>T	ESP,ExAC,TOPMed,gnomAD
rs138865004	p.Thr177Met	missense variant	-	NC_000017.11:g.48607966G>A	ESP,ExAC,TOPMed,gnomAD
rs747017326	p.Glu178Ter	stop gained	-	NC_000017.11:g.48607964C>A	ExAC,gnomAD
rs1338107732	p.Arg179Gly	missense variant	-	NC_000017.11:g.48607961T>C	gnomAD
rs201785717	p.Gln180Glu	missense variant	-	NC_000017.11:g.48607958G>C	1000Genomes,ExAC,gnomAD
rs748360244	p.Ile181Phe	missense variant	-	NC_000017.11:g.48607955T>A	ExAC,gnomAD
rs1400883213	p.Ile181Met	missense variant	-	NC_000017.11:g.48607953G>C	gnomAD
rs1170367362	p.Lys182Glu	missense variant	-	NC_000017.11:g.48607952T>C	gnomAD
rs1467121319	p.Trp184Ter	stop gained	-	NC_000017.11:g.48607945C>T	gnomAD
rs1432148355	p.Phe185Ser	missense variant	-	NC_000017.11:g.48607942A>G	gnomAD
rs1329657682	p.Asn187Ser	missense variant	-	NC_000017.11:g.48607936T>C	TOPMed
rs769002590	p.Arg188Trp	missense variant	-	NC_000017.11:g.48607934G>A	ExAC,gnomAD
rs1431839780	p.Arg188Pro	missense variant	-	NC_000017.11:g.48607933C>G	gnomAD
rs780628804	p.Arg189Leu	missense variant	-	NC_000017.11:g.48607930C>A	ExAC,gnomAD
rs147661273	p.Arg189Cys	missense variant	-	NC_000017.11:g.48607931G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141833680	p.Met190Leu	missense variant	-	NC_000017.11:g.48607928T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143679393	p.Lys191Arg	missense variant	-	NC_000017.11:g.48607924T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs757879230	p.Trp192Cys	missense variant	-	NC_000017.11:g.48607920C>A	ExAC,gnomAD
rs752328350	p.Lys194Arg	missense variant	-	NC_000017.11:g.48607915T>C	ExAC,TOPMed,gnomAD
rs751414149	p.Glu195Ter	stop gained	-	NC_000017.11:g.48607913C>A	TOPMed,gnomAD
rs763870782	p.Glu195Gly	missense variant	-	NC_000017.11:g.48607912T>C	TOPMed,gnomAD
rs374453650	p.Asn196Lys	missense variant	-	NC_000017.11:g.48607908G>T	ESP,TOPMed,gnomAD
rs374453650	p.Asn196Lys	missense variant	-	NC_000017.11:g.48607908G>C	ESP,TOPMed,gnomAD
rs764814825	p.Lys197Glu	missense variant	-	NC_000017.11:g.48607907T>C	ExAC,gnomAD
rs759247051	p.Ala199Thr	missense variant	-	NC_000017.11:g.48607901C>T	ExAC,TOPMed,gnomAD
rs766204258	p.Ala199Val	missense variant	-	NC_000017.11:g.48607900G>A	ExAC,TOPMed,gnomAD
rs759247051	p.Ala199Ser	missense variant	-	NC_000017.11:g.48607901C>A	ExAC,TOPMed,gnomAD
rs766204258	p.Ala199Gly	missense variant	-	NC_000017.11:g.48607900G>C	ExAC,TOPMed,gnomAD
rs772118729	p.Thr203Ile	missense variant	-	NC_000017.11:g.48607888G>A	ExAC,gnomAD
rs1337987639	p.Gly205Asp	missense variant	-	NC_000017.11:g.48607882C>T	gnomAD
COSM980631	p.Asp207Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48607876T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp207His	missense variant	-	NC_000017.11:g.48607877C>G	NCI-TCGA
rs1421939683	p.Glu210Asp	missense variant	-	NC_000017.11:g.48607866T>G	gnomAD
rs200259884	p.Ala211Thr	missense variant	-	NC_000017.11:g.48607865C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu212Lys	missense variant	-	NC_000017.11:g.48607862C>T	NCI-TCGA
rs572654468	p.Glu213Lys	missense variant	-	NC_000017.11:g.48607859C>T	1000Genomes,ExAC,gnomAD
rs1307477029	p.Glu214Lys	missense variant	-	NC_000017.11:g.48607856C>T	TOPMed
rs1366760146	p.Glu215Asp	missense variant	-	NC_000017.11:g.48607851C>G	TOPMed
rs1368161959	p.Glu217Lys	missense variant	-	NC_000017.11:g.48607847C>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0004763	Barrett Esophagus	disease	BEFREE
C0005396	Bile Duct Neoplasms	group	LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE;LHGDN
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025312	Meningomyelocele	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0027831	Neurofibromatosis 1	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0597984	Biliary stricture	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0740277	Bile duct carcinoma	disease	BEFREE
C0750952	Biliary Tract Cancer	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1510885	Angiogenic Switch	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1861922	CAMPOMELIC DYSPLASIA	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2939419	Secondary Neoplasm	group	BEFREE
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C4048328	cervical cancer	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	IBA
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	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	NAS
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006355	regulation of transcription, DNA-templated	NAS
GO:0007275	multicellular organism development	NAS
GO:0009952	anterior/posterior pattern specification	IBA
GO:0030099	myeloid cell differentiation	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	NAS
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	IDA
GO:0016604	nuclear body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of HOXB7 mRNA	27840820
C496492	abrine	abrine results in decreased expression of HOXB7 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of HOXB7 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HOXB7 mRNA	16483693
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the reaction [AHR protein binds to HOXB7 promoter]	19654925
C006780	bisphenol A	bisphenol A results in decreased expression of HOXB7 mRNA	16029874
C006780	bisphenol A	bisphenol A affects the methylation of HOXB7 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of HOXB7 mRNA	25181051
C025703	bleomycetin	bleomycetin results in decreased expression of HOXB7 mRNA	21040473
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of HOXB7 mRNA	16934159
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of HOXB7 mRNA	23914054
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of HOXB7 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of HOXB7 mRNA	23019147
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of HOXB7 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXB7 mRNA	17942748
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of HOXB7 mRNA	23649840
C039281	furan	furan results in increased expression of HOXB7 mRNA	27387713
D005839	Gentamicins	Gentamicins results in decreased expression of HOXB7 mRNA	22061828
C492448	ICG 001	ICG 001 results in increased expression of HOXB7 mRNA	26191083
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of HOXB7 mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of HOXB7 mRNA	29191790
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of HOXB7 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of HOXB7 mRNA	25583101
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of HOXB7 mRNA	23608068
D012715	Sesame Oil	Sesame Oil results in increased expression of HOXB7 mRNA	29191790
C004648	testosterone enanthate	testosterone enanthate affects the expression of HOXB7 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HOXB7 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXB7 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to HOXB7 promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HOXB7 mRNA	17942748
C009495	titanium dioxide	titanium dioxide results in increased expression of HOXB7 mRNA	23557971
D014212	Tretinoin	Tretinoin results in increased expression of HOXB7 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of HOXB7 mRNA	16845368
D014260	Triclosan	Triclosan results in increased expression of HOXB7 mRNA	30510588
D014635	Valproic Acid	Valproic Acid results in increased expression of HOXB7 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of HOXB7 mRNA	24896083
D014638	Vanadates	Vanadates results in increased expression of HOXB7 mRNA	22714537
D014750	Vincristine	Vincristine results in decreased expression of HOXB7 mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
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
IPR017995	Homeobox_antennapedia
IPR001827	Homeobox_Antennapedia_CS
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR020479	Homeobox_metazoa

PROSITE

PROSITE ID	PROSITE Term
PS00032	ANTENNAPEDIA
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: HOXB7

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