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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5456
Gene name Gene Name - the full gene name approved by the HGNC.	POU class 3 homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POU3F4
Synonyms (NCBI Gene) Gene synonyms aliases	BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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
rs111033345	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606974	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906502	C>T	Pathogenic	Missense variant, coding sequence variant
rs397516335	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs397516336	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122516	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122517	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503377	ACTG>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, terminator codon variant, stop lost
rs727505246	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs730882189	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs780027419	C>G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs866754647	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876657719	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499806	G>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555984570	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569280385	G>A	Pathogenic	Coding sequence variant, stop gained

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
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	7839145
GO:0005515	Function	Protein binding	IPI	9105675
GO:0005634	Component	Nucleus	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:0007420	Process	Brain development	IEA
GO:0007605	Process	Sensory perception of sound	TAS	7839145
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	ISS

MIM	HGNC	e!Ensembl
300039	9217	ENSG00000196767

Protein

UniProt ID

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

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.
Choroideremia	choroideremia-deafness-obesity syndrome	N/A	N/A	GenCC
Ependymoma	ependymoma	N/A	N/A	ClinVar
Mitochondrial Non-Syndromic Sensorineural Deafness	mitochondrial non-syndromic sensorineural hearing loss	N/A	N/A	GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Deafness Autosomal Recessive 62	Associate	2491012
Deafness X Linked 3	Associate	25928534, 9298820
Developmental Disabilities	Associate	25792666
Growth Disorders	Associate	26323392
Hearing Loss	Associate	21633365, 24096866, 25792666, 27941975, 28051029, 30176854, 32952548, 33638616, 35189936, 35982127, 36743950, 39272213
Hearing Loss	Stimulate	7839145
Hearing Loss Mixed Conductive Sensorineural	Associate	16365218
Hearing Loss Sensorineural	Associate	29986705
Incontinentia Pigmenti	Associate	32952548
Labyrinth Diseases	Associate	25792666, 25928534, 35189936
Leber Congenital Amaurosis	Associate	21633365
Medulloblastoma	Associate	18664619
Neoplastic Syndromes Hereditary	Associate	39272213
Nonsyndromic Deafness	Associate	16365218, 23990876, 28051029, 32048449, 32952548, 33638616
Nonsyndromic sensorineural hearing loss	Associate	30176854, 30733538
Norrie disease	Associate	21633365
Partial lissencephaly	Associate	33860785, 33919129
Progressive hearing loss stapes fixation	Associate	1609803, 16365218, 21633365, 24096866, 2491012, 25130324, 25928534, 26323392, 30176854, 30289920, 33860785, 35189936, 36743950, 7825582, 7839145, 7891371 View all (1 more)
Semicircular Canal Dehiscence	Associate	16365218
Severe Acute Respiratory Syndrome	Associate	30733538
Signs and Symptoms	Associate	34133399
Vestibular Diseases	Associate	16365218

POU3F4 (POU class 3 homeobox 4)