Endometriosis Knowledgebase

Search Result

Gene id

55591

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

VEZT Gene UCSC Ensembl

Aliases

VEZATIN

Gene name

vezatin, adherens junctions transmembrane protein

Alternate names

vezatin,

Gene location

12q22 (95217745: 95302798) Exons: 19 NC_000012.12

Gene summary(Entrez)

This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

Protein Summary

Protein general information

Q9HBM0

Name: Vezatin

Length: 779 Mass: 88,665

Sequence

MTPEFDEEVVFENSPLYQYLQDLGHTDFEICSSLSPKTEKCTTEGQQKPPTRVLPKQGILLKVAETIKSWIFFSQ
CNKKDDLLHKLDIGFRLDSLHTILQQEVLLQEDVELIELLDPSILSAGQSQQQENGHLPTLCSLATPNIWDLSML
FAFISLLVMLPTWWIVSSWLVWGVILFVYLVIRALRLWRTAKLQVTLKKYSVHLEDMATNSRAFTNLVRKALRLI
QETEVISRGFTLVSAACPFNKAGQHPSQHLIGLRKAVYRTLRANFQAARLATLYMLKNYPLNSESDNVTNYICVV
PFKELGLGLSEEQISEEEAHNFTDGFSLPALKVLFQLWVAQSSEFFRRLALLLSTANSPPGPLLTPALLPHRILS
DVTQGLPHAHSACLEELKRSYEFYRYFETQHQSVPQCLSKTQQKSRELNNVHTAVRSLQLHLKALLNEVIILEDE
LEKLVCTKETQELVSEAYPILEQKLKLIQPHVQASNNCWEEAISQVDKLLRRNTDKKGKPEIACENPHCTVVPLK
QPTLHIADKDPIPEEQELEAYVDDIDIDSDFRKDDFYYLSQEDKERQKREHEESKRVLQELKSVLGFKASEAERQ
KWKQLLFSDHAVLKSLSPVDPVEPISNSEPSMNSDMGKVSKNDTEEESNKSATTDNEISRTEYLCENSLEGKNKD
NSSNEVFPQGAEERMCYQCESEDEPQADGSGLTTAPPTPRDSLQPSIKQRLARLQLSPDFTFTAGLAAEVAARSL
SFTTMQEQTFGGEEEEQIIEENKNEIEEK

Structural information

Interpro:	IPR026859 IPR026858
Pfam:	PF12632
STRING:	ENSP00000410083;

Other Databases

GeneCards: VEZT; Malacards: VEZT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016337	single organismal cell-ce ll adhesion	IEA	biological_process
GO:0017022	myosin binding	IEA	molecular_function
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016337	single organismal cell-ce ll adhesion	IEA	biological_process
GO:0017022	myosin binding	IEA	molecular_function
GO:0030054	cell junction	IEA	cellular_component
GO:0031410	cytoplasmic vesicle	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component

Diseases

Associated diseases	References
Endometriosis	PMID: 25678572
Endometriosis	INFBASE23104006

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25678572	Endometrio sis with S tage III/I V and ovar ian diseas e	rs13394619, rs4141819, rs7739264, rs17694933 and rs10859871	Italian Caucas ian	3015 (305 women with laparosco pically proven endometriosis, 285 laparoscopi c controls and 2425 healthy, b lood donor cont rols )			Show abstract
23104006	Endometrio sis	rs12700667, rs7521902, rs13394619, rs10859871, rs7739264, rs1537377	Europea n, Japa nese	13997 (4,604 en dometriosis cas es, 9,393 contr ols)		WNT4 GREB1 VEZT	Show abstract