Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5459
Gene name	POU class 4 homeobox 3
Gene symbol	POU4F3
Synonyms (NCBI Gene)	BRN3CDFNA15DFNA42DFNA52
Chromosome	5
Chromosome location	5q32
Summary	This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determi

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909056	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909057	T>C	Pathogenic	Coding sequence variant, missense variant
rs398123070	G>A	Pathogenic	Coding sequence variant, missense variant
rs398124631	TATCCAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs759091617	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs766631025	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064792854	GCTCGCTGAGCCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087566	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561590396	C>T	Pathogenic	Coding sequence variant, missense variant
rs1581278366	->TGTG	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019454	hsa-miR-148b-3p	Microarray	17612493
MIRT029758	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all (36)

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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	15465029
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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15465029, 23805044
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9506947
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	28790396
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	28790396
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007601	Process	Visual perception	TAS	7623109
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9506947
GO:0021562	Process	Vestibulocochlear nerve development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15465029, 23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048675	Process	Axon extension	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602460	9220	ENSG00000091010

Q15319

Protein name

POU domain, class 4, transcription factor 3 (Brain-specific homeobox/POU domain protein 3C) (Brain-3C) (Brn-3C)

Protein function

Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system developmen

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00157	Pou	182 → 256	Pou domain - N-terminal to homeobox domain	Domain
PF00046	Homeodomain	275 → 331	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain. Seems to be specific to the retina. {ECO:0000269|PubMed:7623109, ECO:0000269|PubMed:9506947}.

Sequence

MMAMNSKQPFGMHPVLQEPKFSSLHSGSEAMRRVCLPAPQLQGNIFGSFDESLLARAEAL
AAVDIVSHGKNHPFKPDATYHTMSSVPCTSTSSTVPISHPAALTSHPHHAVHQGLEGDLL
EHISPTLSVSGLGAPEHSVMPAQIHPHHLGAMGHLHQAMGMSHPHTVAPHSAMPACLSDV
ESDPRELEAFAERFKQRRIKLGVTQADVGAALANLKIPGVGSLSQSTICRFESLTLSHNN
MIALKPVLQAWLEEAEAAYREKNSKPELFNGSERKRKRTSIAAPEKRSLEAYFAIQPRPS
SEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKYSAVH

Sequence length

338

Interactions

View interactions

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 15	Pathogenic; Likely pathogenic	rs398123070, rs1064792854, rs2126961983, rs2126962041, rs2126960889, rs2126961780, rs2126960899, rs2479690433, rs2479692745, rs398124631, rs121909056, rs121909057, rs2479693124, rs2479693752, rs758938669 View all (6 more)	RCV000082870 RCV000087754 RCV001786490 RCV003229058 RCV001809319 RCV001809322 RCV002250859 RCV003107981 RCV002283862 RCV000007494 RCV000007495 RCV000007496 RCV003229511 RCV003229512 RCV003229513 RCV003881665 RCV004556162 RCV001799512 RCV001250125 RCV001250123 RCV001250126
Autosomal recessive sensorineural hearing loss	Likely pathogenic; Pathogenic	rs1561590396	RCV000681527
Hearing impairment	Likely pathogenic	rs1284441535	RCV001375367
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1561590396	RCV001291237
Rare genetic deafness	Likely pathogenic	rs1581278366	RCV000825604

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital sensorineural hearing impairment	Uncertain significance	rs746613906	RCV000415146
Nonsyndromic Hearing Loss, Dominant	Conflicting classifications of pathogenicity	rs572492254	RCV000292314
POU4F3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs372436251, rs898774220, rs556832050, rs1281667943, rs149303333, rs6885298, rs756195567, rs150802201, rs145372405	RCV004754319 RCV003420452 RCV003419141 RCV003397784 RCV003950246 RCV003914941 RCV004754576 RCV003950570 RCV003953538

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	24260153
Carcinoma Renal Cell	Associate	26057869
Deafness	Associate	23767834, 25388789, 28790396, 32390314, 34325055
Deafness Autosomal Dominant 15	Associate	32684921
Endometrial Hyperplasia	Associate	26057869
Endometrial Neoplasms	Associate	29185275
Hearing Loss	Associate	22938506, 24164807, 24556497, 27999687, 28053790, 28545070, 29850532, 32390314, 34250087, 37072551, 37537203
Hearing Loss Noise Induced	Associate	27271650
Hearing Loss Sensorineural	Associate	24556497, 34250087, 37072551
Neoplasms	Associate	20233874
Neoplastic Syndromes Hereditary	Associate	27999687, 32684921
Nonsyndromic Deafness	Associate	24260153, 25388789, 27999687, 28053790, 29850532, 32684921, 34250087
Nonsyndromic sensorineural hearing loss	Associate	24260153, 24556497, 28545070, 28790396, 32390314
Ovarian Neoplasms	Associate	29185275
Tinnitus	Associate	27271650
Vestibular Diseases	Associate	28545070, 37072551

POU4F3 (POU class 4 homeobox 3)