VAX2 (ventral anterior homeobox 2)

Gene

• Entrez ID: 25806
• Gene name: Ventral anterior homeobox 2
• Gene symbol: VAX2
• Synonyms: DRES93
• Chromosome: 2
• Chromosome location: 2p13.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1483194	hsa-miR-4463	CLIP-seq
MIRT1483195	hsa-miR-4646-5p	CLIP-seq
MIRT1483196	hsa-miR-4731-5p	CLIP-seq
MIRT1483197	hsa-miR-4747-5p	CLIP-seq
MIRT1483198	hsa-miR-4768-3p	CLIP-seq
MIRT1483199	hsa-miR-486-3p	CLIP-seq
MIRT2145486	hsa-miR-1184	CLIP-seq
MIRT2145487	hsa-miR-147	CLIP-seq
MIRT2145488	hsa-miR-2110	CLIP-seq
MIRT2145489	hsa-miR-3911	CLIP-seq
MIRT2145490	hsa-miR-4271	CLIP-seq
MIRT2145491	hsa-miR-4276	CLIP-seq
MIRT2145492	hsa-miR-4474-3p	CLIP-seq
MIRT2145493	hsa-miR-4725-3p	CLIP-seq
MIRT2145494	hsa-miR-491-5p	CLIP-seq
MIRT2145495	hsa-miR-574-5p	CLIP-seq
MIRT2145496	hsa-miR-604	CLIP-seq
MIRT2145497	hsa-miR-644	CLIP-seq
MIRT2145498	hsa-miR-647	CLIP-seq
MIRT2145486	hsa-miR-1184	CLIP-seq
MIRT2145487	hsa-miR-147	CLIP-seq
MIRT2365769	hsa-miR-18a	CLIP-seq
MIRT2365770	hsa-miR-18b	CLIP-seq
MIRT2145488	hsa-miR-2110	CLIP-seq
MIRT2145489	hsa-miR-3911	CLIP-seq
MIRT2365771	hsa-miR-423-3p	CLIP-seq
MIRT2145490	hsa-miR-4271	CLIP-seq
MIRT2145491	hsa-miR-4276	CLIP-seq
MIRT2365772	hsa-miR-4302	CLIP-seq
MIRT1483194	hsa-miR-4463	CLIP-seq
MIRT2145492	hsa-miR-4474-3p	CLIP-seq
MIRT1483195	hsa-miR-4646-5p	CLIP-seq
MIRT2145493	hsa-miR-4725-3p	CLIP-seq
MIRT1483196	hsa-miR-4731-5p	CLIP-seq
MIRT2365773	hsa-miR-4735-3p	CLIP-seq
MIRT1483197	hsa-miR-4747-5p	CLIP-seq
MIRT1483198	hsa-miR-4768-3p	CLIP-seq
MIRT1483199	hsa-miR-486-3p	CLIP-seq
MIRT2145494	hsa-miR-491-5p	CLIP-seq
MIRT2145495	hsa-miR-574-5p	CLIP-seq
MIRT2145496	hsa-miR-604	CLIP-seq
MIRT2365774	hsa-miR-626	CLIP-seq
MIRT2145497	hsa-miR-644	CLIP-seq
MIRT2145498	hsa-miR-647	CLIP-seq
MIRT2365775	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001162	Function	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	10485894
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007398	Process	Ectoderm development	TAS	10485894
GO:0007409	Process	Axonogenesis	IEA
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007601	Process	Visual perception	IEA
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030900	Process	Forebrain development	ISS
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604295
• HGNC: 12661
• e!Ensembl: ENSG00000116035

Protein

• UniProt ID: Q9UIW0
• Protein name: Ventral anterior homeobox 2
• Protein function: Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a p
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	103 → 159	Homeodomain	Domain

• Sequence:

  MGDGGAERDRGPARRAESGGGGGRCGDRSGAGDLRADGGGHSPTEVAGTSASSPAGSRES
  GADSDGQPGPGEADHCRRILVRDAKGTIREIVLPKGLDLDRPKRTRTSFTAEQLYRLEME
  FQRCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQSRDLEKRASSSASEAFATS
  NILRLLEQGRLLSVPRAPSLLALTPSLPGLPASHRGTSLGDPRNSSPRLNPLSSASASPP
  LPPPLPAVCFSSAPLLDLPAGYELGSSAFEPYSWLERKVGSASSCKKANT

• Sequence length: 290

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	7499943, 23729491, 23923981, 27247958, 28188436, 11045400, 9916796, 16611712, 16769747
Renal tubular acidosis, distal, with progressive nerve deafness	Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	rs121964879, rs782723581, rs121964880, rs121964881, rs727504746, rs781838938, rs782138777, rs781969081, rs1553420702, rs1553419751, rs145536062, rs782152033, rs1572924733, rs782500780, rs782549406	18798332, 28233610

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism		23322567
Corneal astigmatism	Regular astigmatism - corneal		23322567
Dysmorphic features	Dysmorphic features		23923981, 7499943, 9916796, 11045400, 16769747, 16611712, 28188436, 27247958, 23729491
Nephrocalcinosis	Nephrocalcinosis		28893421
Nephrolithiasis	Nephrolithiasis		28893421