• Gene id: 55591

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: 20     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

SNPs

rs4471514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.95273561C>A
NC_000012.12   g.95273561C>T
NC_000012.11   g.95667337C>A
NC_000012.11   g.95667337C>T
NG_028987.2   g.60816C>A
NG_028987.2   g.60816C>T
NG_028987.1   g.60816C>A
NG_028987.1   g.60816C>T|SEQ=[C/A/T]|GENE=VEZT

Protein Summary

• Protein general information: Q9HBM0  
  • Name: Vezatin
  • Length: 779  
  • Mass: 88665
• Sequence:

  MTPEFDEEVVFENSPLYQYLQDLGHTDFEICSSLSPKTEKCTTEGQQKPPTRVLPKQGILLKVAETIKSWIFFSQ
  CNKKDDLLHKLDIGFRLDSLHTILQQEVLLQEDVELIELLDPSILSAGQSQQQENGHLPTLCSLATPNIWDLSML
  FAFISLLVMLPTWWIVSSWLVWGVILFVYLVIRALRLWRTAKLQVTLKKYSVHLEDMATNSRAFTNLVRKALRLI
  QETEVISRGFTLVSAACPFNKAGQHPSQHLIGLRKAVYRTLRANFQAARLATLYMLKNYPLNSESDNVTNYICVV
  PFKELGLGLSEEQISEEEAHNFTDGFSLPALKVLFQLWVAQSSEFFRRLALLLSTANSPPGPLLTPALLPHRILS
  DVTQGLPHAHSACLEELKRSYEFYRYFETQHQSVPQCLSKTQQKSRELNNVHTAVRSLQLHLKALLNEVIILEDE
  LEKLVCTKETQELVSEAYPILEQKLKLIQPHVQASNNCWEEAISQVDKLLRRNTDKKGKPEIACENPHCTVVPLK
  QPTLHIADKDPIPEEQELEAYVDDIDIDSDFRKDDFYYLSQEDKERQKREHEESKRVLQELKSVLGFKASEAERQ
  KWKQLLFSDHAVLKSLSPVDPVEPISNSEPSMNSDMGKVSKNDTEEESNKSATTDNEISRTEYLCENSLEGKNKD
  NSSNEVFPQGAEERMCYQCESEDEPQADGSGLTTAPPTPRDSLQPSIKQRLARLQLSPDFTFTAGLAAEVAARSL
  SFTTMQEQTFGGEEEEQIIEENKNEIEEK

• Structural information:
  • Interpro: IPR026859  IPR026858  
  • STRING: ENSP00000410083
• Other Databases: GeneCards:  VEZT  Malacards:  VEZT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002142	stereocilia ankle link complex	ISS	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0017022	myosin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0060171	stereocilium membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)