Seroatlas · Human Serome Atlas

VAX2

Ventral anterior homeobox 2

Also known as: DRES93, VAX2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UIW0
Gene: VAX2
Ensembl: ENSG00000116035
Chromosome: 2
Canonical length: 290 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nuclear speckles

OverviewNCBI Gene

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 retinal development. [provided by RefSeq, Sep 2008]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>Q9UIW0|VAX2
     1  MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS ASSPAGSRES
    61  GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME
   121  FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS
   181  NILRLLEQGR LLSVPRAPSL LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP
   241  LPPPLPAVCF SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VAX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.63
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 12 nTPM
retina: 10 nTPM
amygdala: 3.3 nTPM
hypothalamus: 3.3 nTPM
hippocampal formation: 2.3 nTPM
cerebral cortex: 1.5 nTPM

Single-cell type

cone photoreceptor cells: 93 nCPM
rod photoreceptor cells: 82 nCPM
retinal horizontal cells: 24 nCPM
retinal ganglion cells: 19 nCPM
retinal amacrine cells: 18 nCPM
retinal bipolar cells: 13 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 11 nTPM
hypothalamus: 4.7 nTPM
hippocampal formation: 3.3 nTPM
amygdala: 3.1 nTPM
thalamus: 2.9 nTPM
cerebral cortex: 2 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.03
gnomAD pLI: 0.16
gnomAD missense Z: -0.65
DepMap mean gene effect: -0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VAX2 as an antibody target. Whether an autoantibody or antibody against VAX2 could matter depends on whether native VAX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VAX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VAX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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