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EBF3 EBF transcription factor 3 [ Homo sapiens (human) ]

Gene ID: 253738, updated on 16-Apr-2024

Summary

Official Symbol
EBF3provided by HGNC
Official Full Name
EBF transcription factor 3provided by HGNC
Primary source
HGNC:HGNC:19087
See related
Ensembl:ENSG00000108001 MIM:607407; AllianceGenome:HGNC:19087
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COE3; OE-2; EBF-3; HADDS; O/E-2
Summary
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
Expression
Biased expression in fat (RPKM 8.2), lymph node (RPKM 3.7) and 12 other tissues See more
Orthologs
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Genomic context

Location:
10q26.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (129835233..129964274, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (130762552..130891466, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131633497..131762538, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131318758-131319273 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131320305-131320819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131329433-131330277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131330278-131331122 Neighboring gene O-6-methylguanine-DNA methyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131344545-131345044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131378975-131379951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131389051-131389616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131391090-131391764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4204 Neighboring gene VISTA enhancer hs656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131474191-131474764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131483209-131483710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131483711-131484210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131489399-131490266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131491009-131491509 Neighboring gene uncharacterized LOC105378560 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:131509515-131510230 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:131516429-131517628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131542389-131542890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131542891-131543390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131560022-131560594 Neighboring gene uncharacterized LOC107984281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131571913-131572610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131664970-131665634 Neighboring gene microRNA 4297 Neighboring gene VISTA enhancer hs232 Neighboring gene EBF3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131692870-131693478 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131694193-131695097 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131695098-131696001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131725181-131725712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131747356-131748190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131756502-131757174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131758519-131759190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131762665-131763636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131764672-131765292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131766535-131767154 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:131769017-131769636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131771163-131772046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131770277-131771162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131811814-131812654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131842637-131843136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131847250-131848134 Neighboring gene chromosome 10 open reading frame 143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131903776-131904291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4206 Neighboring gene uncharacterized LOC102724883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4209 Neighboring gene uncharacterized LOC124902560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131919446-131919946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131919947-131920447 Neighboring gene CTAGE family member 7, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-12-06)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-12-06)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor COE3
Names
early B cell factor 3
olf-1/EBF-like 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030038.1 RefSeqGene

    Range
    4554..133595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005463.3NP_001005463.1  transcription factor COE3 isoform 6

    See identical proteins and their annotated locations for NP_001005463.1

    Status: REVIEWED

    Source sequence(s)
    AA330620, AK055710, AK097335, AK098025, AL354950, AL713797, BC130479
    Consensus CDS
    CCDS31314.1
    UniProtKB/TrEMBL
    Q658Y5
    Related
    ENSP00000357637.3, ENST00000368648.8
    Conserved Domains (3) summary
    cd01175
    Location:254338
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  2. NM_001375379.1NP_001362308.1  transcription factor COE3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL354950
    Consensus CDS
    CCDS91376.1
    UniProtKB/Swiss-Prot
    A0AUY1, Q5T6H9, Q9H4W5, Q9H4W6
    UniProtKB/TrEMBL
    Q658Y5
    Related
    ENSP00000347463.4, ENST00000355311.10
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  3. NM_001375380.1NP_001362309.1  transcription factor COE3 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL354950
    Consensus CDS
    CCDS91377.1
    UniProtKB/TrEMBL
    H0Y3W9, Q658Y5
    Related
    ENSP00000387543.2, ENST00000440978.2
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  4. NM_001375389.1NP_001362318.1  transcription factor COE3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL354950
    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  5. NM_001375390.1NP_001362319.1  transcription factor COE3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL354950
    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:254338
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  6. NM_001375391.1NP_001362320.1  transcription factor COE3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL354950
    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  7. NM_001375392.1NP_001362321.1  transcription factor COE3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL354950
    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:254338
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    129835233..129964274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539574.2XP_011537876.1  transcription factor COE3 isoform X5

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (2) summary
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:253296
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  2. XM_047424961.1XP_047280917.1  transcription factor COE3 isoform X8

  3. XM_005252669.3XP_005252726.1  transcription factor COE3 isoform X4

    See identical proteins and their annotated locations for XP_005252726.1

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:254338
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  4. XM_005252667.3XP_005252724.1  transcription factor COE3 isoform X2

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:254338
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:339382
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  5. XM_017016027.1XP_016871516.1  transcription factor COE3 isoform X7

    UniProtKB/TrEMBL
    Q658Y5
  6. XM_006717744.3XP_006717807.1  transcription factor COE3 isoform X6

    See identical proteins and their annotated locations for XP_006717807.1

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  7. XM_006717740.3XP_006717803.1  transcription factor COE3 isoform X1

    See identical proteins and their annotated locations for XP_006717803.1

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  8. XM_011539575.3XP_011537877.1  transcription factor COE3 isoform X9

    Conserved Domains (3) summary
    cd01175
    Location:91175
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16423
    Location:176219
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl17007
    Location:1475
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
  9. XM_006717741.4XP_006717804.1  transcription factor COE3 isoform X3

    UniProtKB/TrEMBL
    Q658Y5
    Conserved Domains (3) summary
    cd01175
    Location:263347
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:21247
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:348391
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    130762552..130891466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365411.1XP_054221386.1  transcription factor COE3 isoform X5

  2. XM_054365414.1XP_054221389.1  transcription factor COE3 isoform X8

  3. XM_054365410.1XP_054221385.1  transcription factor COE3 isoform X4

  4. XM_054365408.1XP_054221383.1  transcription factor COE3 isoform X2

  5. XM_054365413.1XP_054221388.1  transcription factor COE3 isoform X7

  6. XM_054365412.1XP_054221387.1  transcription factor COE3 isoform X6

  7. XM_054365407.1XP_054221382.1  transcription factor COE3 isoform X1

  8. XM_054365415.1XP_054221390.1  transcription factor COE3 isoform X9

  9. XM_054365409.1XP_054221384.1  transcription factor COE3 isoform X3