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Protein

Ventral anterior homeobox 2

Gene

VAX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi604295 gene
neXtProtiNX_Q9UIW0

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
GeneTreeiENSGT00910000144043
HOGENOMiHOG000049217
HOVERGENiHBG007558
InParanoidiQ9UIW0
KOiK09318
OMAiLCFSTAP
OrthoDBiEOG091G0XAA
PhylomeDBiQ9UIW0
TreeFamiTF319504

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
IPR033021 Vax2
PANTHERiPTHR24339:SF34 PTHR24339:SF34, 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: May 23, 2018
This is version 145 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

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Main funding by: National Institutes of Health