VAX1 (ventral anterior homeobox 1)

Gene

• Entrez ID: 11023
• Gene name: Ventral anterior homeobox 1
• Gene symbol: VAX1
• Synonyms: MCOPS11
• Chromosome: 10
• Chromosome location: 10q25.3
• Summary: This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, cal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907252	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736747	hsa-miR-7-1-3p	Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32762844
MIRT1483143	hsa-miR-1470	CLIP-seq
MIRT1483144	hsa-miR-384	CLIP-seq
MIRT1483145	hsa-miR-4446-5p	CLIP-seq
MIRT1483146	hsa-miR-4667-3p	CLIP-seq
MIRT1483147	hsa-miR-4755-5p	CLIP-seq
MIRT1483148	hsa-miR-642a	CLIP-seq
MIRT1483149	hsa-miR-885-3p	CLIP-seq
MIRT1483150	hsa-miR-101	CLIP-seq
MIRT1483151	hsa-miR-103a	CLIP-seq
MIRT1483152	hsa-miR-105	CLIP-seq
MIRT1483153	hsa-miR-107	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT1483155	hsa-miR-1205	CLIP-seq
MIRT1483156	hsa-miR-1305	CLIP-seq
MIRT1483157	hsa-miR-144	CLIP-seq
MIRT1483158	hsa-miR-181a	CLIP-seq
MIRT1483159	hsa-miR-181b	CLIP-seq
MIRT1483160	hsa-miR-181c	CLIP-seq
MIRT1483161	hsa-miR-181d	CLIP-seq
MIRT1483162	hsa-miR-3126-5p	CLIP-seq
MIRT1483163	hsa-miR-3158-5p	CLIP-seq
MIRT1483164	hsa-miR-3192	CLIP-seq
MIRT1483165	hsa-miR-331-3p	CLIP-seq
MIRT1483166	hsa-miR-3682-5p	CLIP-seq
MIRT1483167	hsa-miR-3685	CLIP-seq
MIRT1483168	hsa-miR-371-5p	CLIP-seq
MIRT1483169	hsa-miR-371b-5p	CLIP-seq
MIRT1483170	hsa-miR-374c	CLIP-seq
MIRT1483171	hsa-miR-3929	CLIP-seq
MIRT1483172	hsa-miR-4262	CLIP-seq
MIRT1483173	hsa-miR-4289	CLIP-seq
MIRT1483174	hsa-miR-4292	CLIP-seq
MIRT1483175	hsa-miR-4419a	CLIP-seq
MIRT1483176	hsa-miR-4419b	CLIP-seq
MIRT1483177	hsa-miR-4478	CLIP-seq
MIRT1483178	hsa-miR-4510	CLIP-seq
MIRT1483179	hsa-miR-4649-3p	CLIP-seq
MIRT1483180	hsa-miR-4659a-5p	CLIP-seq
MIRT1483181	hsa-miR-4659b-5p	CLIP-seq
MIRT1483182	hsa-miR-4695-5p	CLIP-seq
MIRT1483183	hsa-miR-4768-3p	CLIP-seq
MIRT1483184	hsa-miR-4776-3p	CLIP-seq
MIRT1483185	hsa-miR-513c	CLIP-seq
MIRT1483186	hsa-miR-514b-5p	CLIP-seq
MIRT1483187	hsa-miR-539	CLIP-seq
MIRT1483188	hsa-miR-580	CLIP-seq
MIRT1483189	hsa-miR-607	CLIP-seq
MIRT1483190	hsa-miR-630	CLIP-seq
MIRT1483191	hsa-miR-655	CLIP-seq
MIRT1483192	hsa-miR-664	CLIP-seq
MIRT1483193	hsa-miR-891b	CLIP-seq
MIRT1483151	hsa-miR-103a	CLIP-seq
MIRT1483153	hsa-miR-107	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT1483155	hsa-miR-1205	CLIP-seq
MIRT1483163	hsa-miR-3158-5p	CLIP-seq
MIRT1483187	hsa-miR-539	CLIP-seq
MIRT1483188	hsa-miR-580	CLIP-seq
MIRT1483193	hsa-miR-891b	CLIP-seq
MIRT2365759	hsa-miR-3154	CLIP-seq
MIRT2365760	hsa-miR-3179	CLIP-seq
MIRT2365761	hsa-miR-3650	CLIP-seq
MIRT2365762	hsa-miR-3936	CLIP-seq
MIRT2365763	hsa-miR-4265	CLIP-seq
MIRT2365764	hsa-miR-4296	CLIP-seq
MIRT2365765	hsa-miR-4318	CLIP-seq
MIRT2365766	hsa-miR-4322	CLIP-seq
MIRT2365767	hsa-miR-4417	CLIP-seq
MIRT2365768	hsa-miR-4455	CLIP-seq
MIRT1483154	hsa-miR-1184	CLIP-seq
MIRT2463156	hsa-miR-197	CLIP-seq
MIRT2463157	hsa-miR-1976	CLIP-seq
MIRT2463158	hsa-miR-370	CLIP-seq
MIRT2463159	hsa-miR-4753-3p	CLIP-seq
MIRT2463160	hsa-miR-4768-5p	CLIP-seq
MIRT2659341	hsa-miR-1277	CLIP-seq
MIRT2463156	hsa-miR-197	CLIP-seq
MIRT2659342	hsa-miR-4694-5p	CLIP-seq
MIRT2659343	hsa-miR-522	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:0001764	Process	Neuron migration	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007420	Process	Brain development	IEA
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604294
• HGNC: 12660
• e!Ensembl: ENSG00000148704

Protein

• UniProt ID: Q5SQQ9
• Protein name: Ventral anterior homeobox 1
• Protein function: Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epitheli
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	101 → 157	Homeodomain	Domain

• Sequence:

  MFGKPDKMDVRCHSDAEAARVSKNAHKESRESKGAEGNLPAAFLKEPQGAFSASGAAEDC
  NKSKSNSAADPDYCRRILVRDAKGSIREIILPKGLDLDRPKRTRTSFTAEQLYRLEMEFQ
  RCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQGKDSELRSVVSETAATCSVLR
  LLEQGRLLSPPGLPALLPPCATGALGSALRGPSLPALGAGAAAGSAAAAAAAAPGPAGAA
  SPHPPAVGGAPGPGPAGPGGLHAGAPAAGHSLFSLPVPSLLGSVASRLSSAPLTMAGSLA
  GNLQELSARYLSSSAFEPYSRTNNKEGAEKKALD

• Sequence length: 334

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Syndromic microphthalmia	MICROPHTHALMIA, SYNDROMIC 11	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937	22095910
Microphthalmos	Microphthalmos	rs794726862, rs1329285216

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye