• Gene id: 25806

Gene Summary

• Gene Symbol: VAX2   Gene   UCSC   Ensembl
• Aliases: DRES93
• Gene name: ventral anterior homeobox 2
• Alternate names: ventral anterior homeobox 2,
• Gene location: 2p13.3 (70900550: 70933916)     Exons: 5     NC_000002.12
• Gene summary(Entrez): This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of reti
• OMIM: 616013

Protein Summary

• Protein general information: Q9UIW0  
  • Name: Ventral anterior homeobox 2
  • Length: 290  
  • Mass: 30874
• Sequence:

  MGDGGAERDRGPARRAESGGGGGRCGDRSGAGDLRADGGGHSPTEVAGTSASSPAGSRESGADSDGQPGPGEADH
  CRRILVRDAKGTIREIVLPKGLDLDRPKRTRTSFTAEQLYRLEMEFQRCQYVVGRERTELARQLNLSETQVKVWF
  QNRRTKQKKDQSRDLEKRASSSASEAFATSNILRLLEQGRLLSVPRAPSLLALTPSLPGLPASHRGTSLGDPRNS
  SPRLNPLSSASASPPLPPPLPAVCFSSAPLLDLPAGYELGSSAFEPYSWLERKVGSASSCKKANT

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR000047   IPR033021  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000234392
• Other Databases: GeneCards:  VAX2  Malacards:  VAX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0030182	neuron differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0030900	forebrain development	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0007398	ectoderm development	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0009950	dorsal/ventral axis specification	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray