Seroatlas · Human Serome Atlas

POU6F2

POU domain, class 6, transcription factor 2

Also known as: PO6F2_HUMAN, RPF-1

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

Protein identityUniProt · HPA

UniProt accession
P78424
Gene
POU6F2
Ensembl
ENSG00000106536
Chromosome
7
Canonical length
691 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

691 residues, UniProt reviewed canonical sequence.

>P78424|POU6F2
     1  MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV ESNDSEDTPS
    61  KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ QLASAVAGVM PGGPPALNQP
   121  ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ
   181  QLQLQLQQQQ QQQQQQPPPS TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS
   241  QLQQAPQPQQ HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP
   301  LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM PNPGPSSQAA
   361  SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG ITLSPIKPGQ QLHQPSQTSV
   421  GQAASQGNLL HLAHSQASMS QSPVRQASSS SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN
   481  LEEIREFAKA FKIRRLSLGL TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE
   541  NTIASSLTAK LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI
   601  GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV VRVWFCNKRQ
   661  ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POU6F2 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)
0.61
Highest tissue expression
1.2 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 1.2 nTPM
  • pancreas: 0.7 nTPM
  • placenta: 0.6 nTPM
  • urinary bladder: 0.5 nTPM
  • amygdala: 0.4 nTPM
  • retina: 0.4 nTPM

Single-cell type

  • retinal amacrine cells: 383 nCPM
  • oligodendrocyte progenitor cells: 350 nCPM
  • retinal ganglion cells: 240 nCPM
  • pancreatic islet cells: 199 nCPM
  • pancreatic duct cells: 168 nCPM
  • astrocytes: 132 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

  • white matter: 4.6 nTPM
  • cerebral cortex: 3.1 nTPM
  • midbrain: 1.5 nTPM
  • basal ganglia: 1.3 nTPM
  • hypothalamus: 1.3 nTPM
  • pons: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POU6F2.

Disease | AllUniProt

Conditions POU6F2 is implicated in, by any mechanism.

  • Hereditary susceptibility to Wilms tumor 5 (WT5) MIM:601583

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 160 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Wilms tumor 5

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)
0.56
gnomAD pLI
0
gnomAD missense Z
0.46
DepMap mean gene effect
0.18
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 POU6F2 as an antibody target. Whether an autoantibody or antibody against POU6F2 could matter depends on whether native POU6F2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POU6F2 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 POU6F2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POU6F2. 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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