Endometriosis Knowledgebase

Search Result

Gene id

3212

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HOXB2 Gene UCSC Ensembl

Aliases

HOX2, HOX2H, Hox-2.8, K8

Gene name

homeobox B2

Alternate names

homeobox protein Hox-B2, K8 home protein, homeo box 2H, homeo box B2, homeobox protein Hox-2.8, homeobox protein Hox-2H,

Gene location

17q21.32 (48545030: 48542654) Exons: 3 NC_000017.11

Gene summary(Entrez)

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]

OMIM

142967

Protein Summary

Protein general information

P14652

Name: Homeobox protein Hox B2 (Homeobox protein Hox 2.8) (Homeobox protein Hox 2H) (K8)

Length: 356 Mass: 37,914

Sequence

MNFEFEREIGFINSQPSLAECLTSFPAVLETFQTSSIKESTLIPPPPPFEQTFPSLQPGASTLQRPRSQKRAEDG
PALPPPPPPPLPAAPPAPEFPWMKEKKSAKKPSQSATSPSPAASAVPASGVGSPADGLGLPEAGGGGARRLRTAY
TNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQHREPPDGEPACPGALEDICDPA
EEPAASPGGPSASRAAWEACCHPPEVVPGALSADPRPLAVRLEGAGASSPGCALRGAGGLEPGPLPEDVFSGRQD
SPFLPDLNFFAADSCLQLSGGLSPSLQGSLDSPVPFSEEELDFFTSTLCAIDLQFP

Structural information

Motifs	Antp-type hexapeptide.(94-99)
Interpro:	IPR009057 IPR001827 IPR017970 IPR001356 IPR020479
Prosite:	PS00032 PS00027 PS50071
Pfam:	PF00046
STRING:	ENSP00000331741;

Other Databases

GeneCards: HOXB2; Malacards: HOXB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002011	morphogenesis of an epith elial sheet	IEA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008015	blood circulation	TAS	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0021569	rhombomere 3 development	IEA	biological_process
GO:0021570	rhombomere 4 development	IEA	biological_process
GO:0021612	facial nerve structural o rganization	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological_process
GO:0048857	neural nucleus developmen t	IEA	biological_process
GO:0002011	morphogenesis of an epith elial sheet	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008015	blood circulation	TAS	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0009953	dorsal/ventral pattern fo rmation	IEA	biological_process
GO:0021569	rhombomere 3 development	IEA	biological_process
GO:0021570	rhombomere 4 development	IEA	biological_process
GO:0021612	facial nerve structural o rganization	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological_process
GO:0048705	skeletal system morphogen esis	IEA	biological_process
GO:0048857	neural nucleus developmen t	IEA	biological_process
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008015	blood circulation	TAS	biological_process

Diseases

Associated diseases	References
Endometriosis	PMID: 21156832
Endometriosis	INFBASE21156832

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21156832	Endometrio sis			18 (9 endometri osis patients, 9 control women )		HOXB2	Show abstract