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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57593
Gene name	EBF family member 4
Gene symbol	EBF4
Synonyms (NCBI Gene)	COE4O/E-4OE-4
Chromosome	20
Chromosome location	20p13
Summary	EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT717089	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT717088	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT717087	hsa-miR-4257	HITS-CLIP	19536157
MIRT717086	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT717085	hsa-miR-3130-3p	HITS-CLIP	19536157
MIRT717084	hsa-miR-4793-3p	HITS-CLIP	19536157
MIRT717083	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT717082	hsa-miR-3942-3p	HITS-CLIP	19536157
MIRT717089	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT717088	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT717087	hsa-miR-4257	HITS-CLIP	19536157
MIRT717086	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT717085	hsa-miR-3130-3p	HITS-CLIP	19536157
MIRT717084	hsa-miR-4793-3p	HITS-CLIP	19536157
MIRT717083	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT717082	hsa-miR-3942-3p	HITS-CLIP	19536157
MIRT951387	hsa-miR-125a-5p	CLIP-seq
MIRT951388	hsa-miR-125b	CLIP-seq
MIRT951389	hsa-miR-3160-3p	CLIP-seq
MIRT951390	hsa-miR-3180-5p	CLIP-seq
MIRT951391	hsa-miR-3665	CLIP-seq
MIRT951392	hsa-miR-371-5p	CLIP-seq
MIRT951393	hsa-miR-371b-5p	CLIP-seq
MIRT951394	hsa-miR-4287	CLIP-seq
MIRT951395	hsa-miR-4319	CLIP-seq
MIRT951396	hsa-miR-4469	CLIP-seq
MIRT951397	hsa-miR-4487	CLIP-seq
MIRT951398	hsa-miR-4685-3p	CLIP-seq
MIRT951399	hsa-miR-4693-3p	CLIP-seq
MIRT951400	hsa-miR-4706	CLIP-seq
MIRT951401	hsa-miR-4712-3p	CLIP-seq
MIRT951402	hsa-miR-4713-5p	CLIP-seq
MIRT951403	hsa-miR-4732-3p	CLIP-seq
MIRT951404	hsa-miR-4749-5p	CLIP-seq
MIRT951405	hsa-miR-558	CLIP-seq
MIRT951406	hsa-miR-646	CLIP-seq
MIRT951407	hsa-miR-657	CLIP-seq
MIRT951408	hsa-miR-670	CLIP-seq
MIRT951409	hsa-miR-671-5p	CLIP-seq
MIRT951410	hsa-miR-744	CLIP-seq
MIRT1981820	hsa-miR-637	CLIP-seq
MIRT2216671	hsa-miR-3151	CLIP-seq
MIRT2216672	hsa-miR-4273	CLIP-seq
MIRT2216673	hsa-miR-4447	CLIP-seq
MIRT2216674	hsa-miR-4472	CLIP-seq
MIRT2216675	hsa-miR-4488	CLIP-seq
MIRT2216676	hsa-miR-4677-5p	CLIP-seq
MIRT2216677	hsa-miR-4697-5p	CLIP-seq
MIRT2216678	hsa-miR-491-5p	CLIP-seq
MIRT2387203	hsa-miR-2467-3p	CLIP-seq
MIRT2387204	hsa-miR-3158-5p	CLIP-seq
MIRT2387205	hsa-miR-3678-3p	CLIP-seq
MIRT2387206	hsa-miR-3919	CLIP-seq
MIRT2387207	hsa-miR-4259	CLIP-seq
MIRT2387208	hsa-miR-639	CLIP-seq
MIRT2520625	hsa-miR-1321	CLIP-seq
MIRT2520626	hsa-miR-1322	CLIP-seq
MIRT2520627	hsa-miR-3612	CLIP-seq
MIRT2520628	hsa-miR-3943	CLIP-seq
MIRT2520629	hsa-miR-4270	CLIP-seq
MIRT2520630	hsa-miR-4441	CLIP-seq
MIRT2520631	hsa-miR-4739	CLIP-seq
MIRT2520632	hsa-miR-4756-5p	CLIP-seq
MIRT2520633	hsa-miR-650	CLIP-seq
MIRT2520625	hsa-miR-1321	CLIP-seq
MIRT2520626	hsa-miR-1322	CLIP-seq
MIRT2520627	hsa-miR-3612	CLIP-seq
MIRT2520628	hsa-miR-3943	CLIP-seq
MIRT2520629	hsa-miR-4270	CLIP-seq
MIRT2520630	hsa-miR-4441	CLIP-seq
MIRT2520631	hsa-miR-4739	CLIP-seq
MIRT2520632	hsa-miR-4756-5p	CLIP-seq
MIRT2520633	hsa-miR-650	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	35939714
GO:0000785	Component	Chromatin	ISA
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	35939714
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	35939714
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	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	35939714
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	35939714
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070231	Process	T cell apoptotic process	IMP	35939714
GO:0140297	Function	DNA-binding transcription factor binding	IPI	35939714

MIM	HGNC	e!Ensembl
609935	29278	ENSG00000088881

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Protein name

Transcription factor COE4 (Early B-cell factor 4) (EBF-4) (Olf-1/EBF-like 4) (O/E-4) (OE-4)

Protein function

Transcription factor (PubMed:35939714). Binds to specific sequence motif 5'-CCCNNG[GA]G-3' in regulatory elements of putative target immunoregulatory genes such as NKG7, GZMA, and TBX21 (PubMed:35939714). Positively modulates transcription of NK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16422	COE1_DBD	18 → 248	Transcription factor COE1 DNA-binding domain	Domain
PF01833	TIG	256 → 338	IPT/TIG domain	Domain
PF16423	COE1_HLH	341 → 384	Transcription factor COE1 helix-loop-helix domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Most highly expressed in cytotoxic NK cells, especially CD16(+) NK cells, followed by CD8(+) T-cells. {ECO:0000269|PubMed:35939714}.

Sequence

MFPAQDALPRSGLNLKEEPLLPAGLGSVRSWMQGAGILDASTAAQSGVGLARAHFEKQPP
SNLRKSNFFHFVLAMYDRQGQPVEVERTAFIDFVEKDREPGAEKTNNGIHYRLRLVYNNG
LRTEQDLYVRLIDSMSKQAIIYEGQDKNPEMCRVLLTHEIMCSRCCDRKSCGNRNETPSD
PVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVSVDGHVLAVSDNMFVHNNSK
HGRRARRLDPSEAATPCIKAISPGEGWTTGGATVIVIGDNFFDGLQVVFGNVLVWSELIT
PHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGCPGRFVYTALNEPTIDYGFQRLQKVIPRH
PGDPERLPKEVLLKRAADLAEALYGVPGSNQELLLKRAADVAEALYSTPRAPGPLAPLAP
SHPHPAVVGINAFSSPLAIAVGDATPGPEPGYARSCSSASPRGFAPSPGSQQSGYGGGLG
AGLGGYGAPGVAGLGVPGSPSFLNGSTATSPFAIMPSSPPLAAASSMSLPAAAPTTSVFS
FSPVNMISAVKQRSAFAPVLRPPSSPPQACPRAHGEGLPDQSFEDSDKFHSPARGLQGLA
YS

Sequence length

602

Interactions

View interactions

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 (2)

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.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colonic Neoplasms	Colonic neoplasm	Pubtator	38025763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25701644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EBF4 (EBF family member 4)