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Protein

Ventral anterior homeobox 2

Gene

VAX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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 potent dominant-negative Wnt antagonist. 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.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi102 – 161HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation, Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Ventral anterior homeobox 2
Gene namesi
Name:VAX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000116035.2.
HGNCiHGNC:12661. VAX2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi25806.
OpenTargetsiENSG00000116035.
PharmGKBiPA37284.

Polymorphism and mutation databases

BioMutaiVAX2.
DMDMi20532295.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000493511 – 290Ventral anterior homeobox 2Add BLAST290

Proteomic databases

PaxDbiQ9UIW0.
PeptideAtlasiQ9UIW0.
PRIDEiQ9UIW0.

PTM databases

iPTMnetiQ9UIW0.
PhosphoSitePlusiQ9UIW0.

Expressioni

Developmental stagei

Expressed in the ventral part of the optic vesicles at 7 week dpc.1 Publication

Gene expression databases

BgeeiENSG00000116035.
CleanExiHS_VAX2.
ExpressionAtlasiQ9UIW0. baseline and differential.
GenevisibleiQ9UIW0. HS.

Organism-specific databases

HPAiHPA009708.

Interactioni

Protein-protein interaction databases

BioGridi117338. 3 interactors.
IntActiQ9UIW0. 3 interactors.
STRINGi9606.ENSP00000234392.

Structurei

3D structure databases

ProteinModelPortaliQ9UIW0.
SMRiQ9UIW0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1 – 71Gly-richAdd BLAST71

Sequence similaritiesi

Belongs to the EMX homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0843. Eukaryota.
ENOG4111SRW. LUCA.
GeneTreeiENSGT00890000139378.
HOGENOMiHOG000049217.
HOVERGENiHBG007558.
InParanoidiQ9UIW0.
KOiK09318.
OMAiLCFSTAP.
OrthoDBiEOG091G0XAA.
PhylomeDBiQ9UIW0.
TreeFamiTF319504.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR000047. HTH_motif.
IPR033021. Vax2.
PANTHERiPTHR24339:SF42. PTHR24339:SF42. 1 hit.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UIW0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS
60 70 80 90 100
ASSPAGSRES GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD
110 120 130 140 150
RPKRTRTSFT AEQLYRLEME FQRCQYVVGR ERTELARQLN LSETQVKVWF
160 170 180 190 200
QNRRTKQKKD QSRDLEKRAS SSASEAFATS NILRLLEQGR LLSVPRAPSL
210 220 230 240 250
LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP LPPPLPAVCF
260 270 280 290
SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT
Length:290
Mass (Da):30,874
Last modified:May 1, 2000 - v1
Checksum:i917164EE66E66051
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06730824R → G1 PublicationCorresponds to variant dbSNP:rs2234496Ensembl.1
Natural variantiVAR_020152254P → R1 PublicationCorresponds to variant dbSNP:rs2234500Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17791 mRNA. Translation: CAB56166.1.
BT007035 mRNA. Translation: AAP35683.1.
CH471053 Genomic DNA. Translation: EAW99792.1.
BC006336 mRNA. Translation: AAH06336.1.
CCDSiCCDS1911.1.
RefSeqiNP_036608.1. NM_012476.2.
UniGeneiHs.249170.

Genome annotation databases

EnsembliENST00000234392; ENSP00000234392; ENSG00000116035.
GeneIDi25806.
KEGGihsa:25806.
UCSCiuc002shh.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVAX2_HUMAN
AccessioniPrimary (citable) accession number: Q9UIW0
Secondary accession number(s): Q53Y33
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: May 1, 2000
Last modified: September 27, 2017
This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families