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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5458
Gene name	POU class 4 homeobox 2
Gene symbol	POU4F2
Synonyms (NCBI Gene)	BRN3.2BRN3BBrn-3b
Chromosome	4
Chromosome location	4q31.22
Summary	The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003856	hsa-miR-23a-3p	Luciferase reporter assay	14697198
MIRT003856	hsa-miR-23a-3p	FlowGFP reporter assayNorthern blotqRT-PCRWestern blot	20609388
MIRT005551	hsa-miR-214-3p	FlowGFP reporter assayNorthern blotqRT-PCRWestern blot	20609388
MIRT1251030	hsa-miR-1243	CLIP-seq
MIRT1251031	hsa-miR-1257	CLIP-seq
MIRT1251032	hsa-miR-2115	CLIP-seq
MIRT1251033	hsa-miR-219-2-3p	CLIP-seq
MIRT1251034	hsa-miR-23a	CLIP-seq
MIRT1251035	hsa-miR-23b	CLIP-seq
MIRT1251036	hsa-miR-23c	CLIP-seq
MIRT1251037	hsa-miR-3654	CLIP-seq
MIRT1251038	hsa-miR-4699-3p	CLIP-seq
MIRT1251039	hsa-miR-516a-3p	CLIP-seq
MIRT2074093	hsa-miR-3120-3p	CLIP-seq
MIRT2301102	hsa-miR-185	CLIP-seq
MIRT1251034	hsa-miR-23a	CLIP-seq
MIRT1251035	hsa-miR-23b	CLIP-seq
MIRT1251036	hsa-miR-23c	CLIP-seq
MIRT2301103	hsa-miR-4306	CLIP-seq
MIRT2301104	hsa-miR-4644	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SOX2	Repression	20739473

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23805044
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000165	Process	MAPK cascade	IDA	21241485
GO:0000785	Component	Chromatin	ISA
GO:0000791	Component	Euchromatin	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	17637757, 21241485
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	IDA	23805044
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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	17637757, 21241485
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	17145718
GO:0002039	Function	P53 binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IC	21241485
GO:0005634	Component	Nucleus	IDA	7691107
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IGI	17145718
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016607	Component	Nuclear speck	IDA	19266028
GO:0016607	Component	Nuclear speck	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030520	Process	Estrogen receptor signaling pathway	IDA	21241485
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0043068	Process	Positive regulation of programmed cell death	ISS
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17637757, 21241485, 23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19266028
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	17145718
GO:0046326	Process	Positive regulation of D-glucose import	IEA
GO:0048675	Process	Axon extension	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	ISS
GO:0090259	Process	Regulation of retinal ganglion cell axon guidance	IEA
GO:0090259	Process	Regulation of retinal ganglion cell axon guidance	ISS
GO:1902870	Process	Negative regulation of amacrine cell differentiation	IEA
GO:1902870	Process	Negative regulation of amacrine cell differentiation	ISS
GO:1904178	Process	Negative regulation of adipose tissue development	IEA
GO:1990791	Process	Dorsal root ganglion development	IEA
GO:1990791	Process	Dorsal root ganglion development	ISS
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	ISS

MIM	HGNC	e!Ensembl
113725	9219	ENSG00000151615

Q12837

Protein name

POU domain, class 4, transcription factor 2 (Brain-specific homeobox/POU domain protein 3B) (Brain-3B) (Brn-3B)

Protein function

Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription thro

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00157	Pou	253 → 327	Pou domain - N-terminal to homeobox domain	Domain
PF00046	Homeodomain	346 → 402	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain (PubMed:7691107). Expressed in the ganglion cell layer of the retina (PubMed:7691107). {ECO:0000269|PubMed:7691107}.

Sequence

MMMMSLNSKQAFSMPHGGSLHVEPKYSALHSTSPGSSAPIAPSASSPSSSSNAGGGGGGG
GGGGGGGGRSSSSSSSGSSGGGGSEAMRRACLPTPPSNIFGGLDESLLARAEALAAVDIV
SQSKSHHHHPPHHSPFKPDATYHTMNTIPCTSAASSSSVPISHPSALAGTHHHHHHHHHH
HHQPHQALEGELLEHLSPGLALGAMAGPDGAVVSTPAHAPHMATMNPMHQAALSMAHAHG
LPSHMGCMSDVDADPRDLEAFAERFKQRRIKLGVTQADVGSALANLKIPGVGSLSQSTIC
RFESLTLSHNNMIALKPILQAWLEEAEKSHREKLTKPELFNGAEKKRKRTSIAAPEKRSL
EAYFAIQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKYSAGI

Sequence length

409

Interactions

View interactions

	Reactome
			Regulation of TP53 Activity through Association with Co-factors

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26700620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11526481, 15833836, 16152597, 16441225, 17637757, 21241485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21279488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14970234, 19457610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	26700620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35473892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	9541499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26700620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15818685	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15818685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11526481, 15833836, 16152597, 16441225, 17637757, 21241485, 21279488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25243889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26700620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16441225, 22856590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11526481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14726699, 15833836, 16152597, 17637757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11521202, 16441225, 21241485, 22856590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	14970234, 17490655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16441225, 17490655, 17637757, 8782654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	17637757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	9541499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25243889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31710242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23056278, 26700620, 35241014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

POU4F2 (POU class 4 homeobox 2)