Seroatlas · Human Serome Atlas

PAX4

Paired box protein Pax-4

Also known as: MODY9, PAX4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O43316
Gene
PAX4
Ensembl
ENSG00000106331
Chromosome
7
Canonical length
350 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>O43316|PAX4
     1  MHQDGISSMN QLGGLFVNGR PLPLDTRQQI VRLAVSGMRP CDISRILKVS NGCVSKILGR
    61  YYRTGVLEPK GIGGSKPRLA TPPVVARIAQ LKGECPALFA WEIQRQLCAE GLCTQDKTPS
   121  VSSINRVLRA LQEDQGLPCT RLRSPAVLAP AVLTPHSGSE TPRGTHPGTG HRNRTIFSPS
   181  QAEALEKEFQ RGQYPDSVAR GKLATATSLP EDTVRVWFSN RRAKWRRQEK LKWEMQLPGA
   241  SQGLTVPRVA PGIISAQQSP GSVPTAALPA LEPLGPSCYQ LCWATAPERC LSDTPPKACL
   301  KPCWDCGSFL LPVIAPSCVD VAWPCLDASL AHHLIGGAGK ATPTHFSHWP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAX4 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)
0.54
Highest tissue expression
0.9 nTPM

Expression across tissuesHPA

Tissue

  • duodenum: 0.9 nTPM
  • rectum: 0.7 nTPM
  • testis: 0.6 nTPM
  • small intestine: 0.5 nTPM
  • colon: 0.3 nTPM
  • epididymis: 0.2 nTPM

Single-cell type

  • neuroendocrine cells: 43 nCPM
  • late spermatids: 20 nCPM
  • early spermatids: 3 nCPM
  • cytotrophoblasts: 0.5 nCPM
  • enteric transient amplifying cells: 0.4 nCPM
  • late primary spermatocytes: 0.4 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

  • cerebral cortex: 0.9 nTPM
  • cerebellum: 0.8 nTPM
  • medulla oblongata: 0.8 nTPM
  • pons: 0.8 nTPM
  • amygdala: 0.7 nTPM
  • basal ganglia: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAX4.

Disease | AllUniProt

Conditions PAX4 is implicated in, by any mechanism.

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)
0.89
gnomAD pLI
0
gnomAD missense Z
-0.56
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 PAX4 as an antibody target. Whether an autoantibody or antibody against PAX4 could matter depends on whether native PAX4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAX4 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 PAX4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAX4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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