POU3F4

Protein identityUniProt · HPA

UniProt accession

P49335

Gene

POU3F4

Canonical length

361 aa

Protein class

Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

No narrative summary is available for POU3F4 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

361 residues, UniProt reviewed canonical sequence.

>P49335|POU3F4
     1  MATAASNPYS ILSSTSLVHA DSAGMQQGSP FRNPQKLLQS DYLQGVPSNG HPLGHHWVTS
    61  LSDGGPWSST LATSPLDQQD VKPGREDLQL GAIIHHRSPH VAHHSPHTNH PNAWGASPAP
   121  NPSITSSGQP LNVYSQPGFT VSGMLEHGGL TPPPAAASAQ SLHPVLREPP DHGELGSHHC
   181  QDHSDEETPT SDELEQFAKQ FKQRRIKLGF TQADVGLALG TLYGNVFSQT TICRFEGLQL
   241  SFKNMCKLKP LLNKWLEEAD SSTGSPTSID KIAAQGRKRK KRTSIEVSVK GVLETHFLKC
   301  PKPAAQEISS LADSLQLEKE VVRVWFCNRR QKEKRMTPPG DQQPHEVYSH TVKTDTSCHD
   361  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POU3F4 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)

0.58

Highest tissue expression

20 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POU3F4.

Disease | AllUniProt

Conditions POU3F4 is implicated in, by any mechanism.

• Deafness, X-linked, 2 (DFNX2) MIM:304400

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 220 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• X-linked mixed hearing loss with perilymphatic gusher
• Rare genetic deafness
• Nonsyndromic genetic hearing loss
• Autosomal recessive sensorineural hearing loss
• Ear malformation

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)

0.7

gnomAD pLI

0.57

gnomAD missense Z

1.93

DepMap mean gene effect

0.08

DepMap dependency class

selective

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

• brain development
• cochlea morphogenesis
• negative regulation of mesenchymal cell apoptotic process
• regulation of transcription by RNA polymerase II
• sensory perception of sound

Molecular functions

• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• POU-specific domain
• Homeodomain
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• POU domain
• POU-domain transcription factor, class 3
• Homeobox, conserved site
• POU domain transcription factor
• Homeodomain
• Pou domain - N-terminal to homeobox domain

KeywordsUniProt

• Deafness
• DNA-binding
• Homeobox
• Non-syndromic deafness
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of POU3F4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HNRNPU