POU3F4 (POU class 3 homeobox 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 5456
Gene name POU class 3 homeobox 4
Gene symbol POU3F4
Synonyms (NCBI Gene)
BRAIN-4BRN-4BRN4DFN3DFNX2OCT-9OTF-9OTF9
Chromosome X
Chromosome location Xq21.1
Summary This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor
SNPs SNP information provided by dbSNP.
21
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
SNP ID Visualize variation Clinical significance Consequence
rs104894920 A>T Pathogenic Coding sequence variant, stop gained
rs104894921 T>G Pathogenic Coding sequence variant, missense variant
rs104894922 A>G Pathogenic Coding sequence variant, missense variant
rs104894923 A>T Pathogenic Coding sequence variant, missense variant
rs104894924 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300039 9217 ENSG00000196767
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49335
Protein name POU domain, class 3, transcription factor 4 (Brain-specific homeobox/POU domain protein 4) (Brain-4) (Brn-4) (Octamer-binding protein 9) (Oct-9) (Octamer-binding transcription factor 9) (OTF-9)
Protein function Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 189 → 260 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 279 → 335 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Brain specific.
Sequence 
MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTS
LSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAP
NPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHC
QDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEGLQL
SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKC
PKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHD
L
Sequence length 361
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive sensorineural hearing loss Pathogenic rs1569280235 RCV000681550
Ear malformation Likely pathogenic rs1602641906 RCV001814383
Nonsyndromic genetic hearing loss Likely pathogenic rs397516335 RCV004799758
Rare genetic deafness Likely pathogenic; Pathogenic rs727505246, rs727503377, rs876657719, rs111033343, rs111033345, rs397516335, rs397516336 RCV000156766
RCV000151671
RCV000215388
RCV000036254
RCV000036255
RCV000036258
RCV000036260
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ependymoma Uncertain significance rs1555984638 RCV000577854
POU3F4-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs186010225, rs144417952, rs765593474, rs748935939 RCV003966254
RCV003965163
RCV003919246
RCV003983545
X-linked nonsyndromic hearing loss Likely benign rs763018226 RCV002223134
Show/Hide Text Mining Associations (32)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 33638616
Adenocarcinoma of Lung Associate 35367201
Adrenoleukodystrophy Associate 32952548
Arnold Chiari Malformation Associate 32952548
Bone Diseases Associate 16365218, 27941975
Carcinoma Neuroendocrine Associate 35367201
Cardiomyopathy Dilated Associate 16365218
Cochlear Diseases Associate 33860785
Deafness Associate 1609803, 16365218, 22389666, 25792666, 25928534, 27941975, 32048449, 33976695, 35062939, 7825582
Deafness Autosomal Recessive 3 Associate 25928534, 34133399, 9298820