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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5459
Gene name Gene Name - the full gene name approved by the HGNC.	POU class 4 homeobox 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POU4F3
Synonyms (NCBI Gene) Gene synonyms aliases	BRN3C, DFNA15, DFNA42, DFNA52
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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 (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal dominant nonsyndromic hearing loss 15	rs398124631, rs121909056, rs121909057, rs398123070, rs1064792854, rs766631025	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1561590396	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Nonsyndromic Deafness	Nonsyndromic Hearing Loss, Dominant	N/A	N/A	ClinVar
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)