Q9UIW0 (VAX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ventral anterior homeobox 2

Gene names

Name:

VAX2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	290 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle By similarity. May be a regulator of axial polarization in the retina. Ref.1
Subcellular location	Nucleus Probable.
Developmental stage	Expressed in the ventral part of the optic vesicles at 7 week dpc. Ref.1
Sequence similarities	Belongs to the EMX homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	ectoderm development Traceable author statement. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: ProtInc transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 290	290	Ventral anterior homeobox 2		PRO_0000049351
Regions
	DNA binding	102 – 161	60	Homeobox
	Compositional bias	1 – 71	71	Gly-rich
Natural variations
	Natural variant	254	1	P → R. Corresponds to variant rs2234500 [ dbSNP | Ensembl ].		VAR_020152

Sequences

	Sequence		Length	Mass (Da)
	Q9UIW0 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 917164EE66E66051	FASTA	290	30,874
	10 20 30 40 50 60 MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS ASSPAGSRES 70 80 90 100 110 120 GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME 130 140 150 160 170 180 FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS 190 200 210 220 230 240 NILRLLEQGR LLSVPRAPSL LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP 250 260 270 280 290 LPPPLPAVCF SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis." Barbieri A.M., Lupo G., Bulfone A., Andreazzoli M., Mariani M., Fougerousse F., Consalez G.G., Borsani G., Beckmann J.S., Barsacchi G., Ballabio A., Banfi S. Proc. Natl. Acad. Sci. U.S.A. 96:10729-10734(1999) [PubMed: 10485894] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION IN EYE DEVELOPMENT, DEVELOPMENTAL STAGE. Tissue: Teratocarcinoma.
[2]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y17791 mRNA. Translation: CAB56166.1. BT007035 mRNA. Translation: AAP35683.1. CH471053 Genomic DNA. Translation: EAW99792.1. BC006336 mRNA. Translation: AAH06336.1.
IPI	IPI00018903.
RefSeq	NP_036608.1. NM_012476.2.
UniGene	Hs.249170.
3D structure databases
ProteinModelPortal	Q9UIW0.
SMR	Q9UIW0. Positions 104-160.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UIW0.
PTM databases
PhosphoSite	Q9UIW0.
Polymorphism databases
DMDM	20532295.
Proteomic databases
PRIDE	Q9UIW0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000234392; ENSP00000234392; ENSG00000116035.
GeneID	25806.
KEGG	hsa:25806.
UCSC	uc002shh.1. human.
Organism-specific databases
CTD	25806.
GeneCards	GC02P071127.
H-InvDB	HIX0002143.
HGNC	HGNC:12661. VAX2.
MIM	604295. gene.
neXtProt	NX_Q9UIW0.
PharmGKB	PA37284.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00560000077194.
HOGENOM	HBG717598.
HOVERGEN	HBG007558.
InParanoid	Q9UIW0.
OMA	PYSWLER.
OrthoDB	EOG4QVCD6.
PhylomeDB	Q9UIW0.
Gene expression databases
ArrayExpress	Q9UIW0.
Bgee	Q9UIW0.
CleanEx	HS_VAX2.
Genevestigator	Q9UIW0.
GermOnline	ENSG00000116035. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR020479. Homeobox_eu. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR000047. HTH_motif. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K09318.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	47023.
SOURCE	Search...

Entry information

Entry name

VAX2_HUMAN

Accession

Primary (citable) accession number: Q9UIW0
Secondary accession number(s): Q53Y33

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2002
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.