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Aliases for EBF2 Gene

Aliases for EBF2 Gene

  • Early B-Cell Factor 2 2 3 4 5
  • EBF-2 3 4
  • COE2 3 4
  • Metencephalon-Mesencephalnon-Olfactory Transcription Factor 1 3
  • Transcription Factor COE2 3
  • Collier, Olf And EBF 2 3
  • OLF-1/EBF-LIKE 3 3
  • O/E-3 3
  • OE-3 3

External Ids for EBF2 Gene

Previous GeneCards Identifiers for EBF2 Gene

  • GC08M025474
  • GC08M026054
  • GC08M025723
  • GC08M025757
  • GC08M024246

Summaries for EBF2 Gene

Entrez Gene Summary for EBF2 Gene

  • The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]

GeneCards Summary for EBF2 Gene

EBF2 (Early B-Cell Factor 2) is a Protein Coding gene. Diseases associated with EBF2 include Motor Neuritis and Kallmann Syndrome. GO annotations related to this gene include chromatin binding and protein dimerization activity. An important paralog of this gene is EBF3.

UniProtKB/Swiss-Prot for EBF2 Gene

  • Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5-ATTCCCNNGGGAATT-3 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EBF2 Gene

Genomics for EBF2 Gene

Regulatory Elements for EBF2 Gene

Enhancers for EBF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around EBF2 on UCSC Golden Path with GeneCards custom track

Promoters for EBF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for EBF2 Gene

Chromosome:
8
Start:
25,841,730 bp from pter
End:
26,045,397 bp from pter
Size:
203,668 bases
Orientation:
Minus strand

Genomic View for EBF2 Gene

Genes around EBF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EBF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EBF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EBF2 Gene

Proteins for EBF2 Gene

  • Protein details for EBF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAK2-COE2_HUMAN
    Recommended name:
    Transcription factor COE2
    Protein Accession:
    Q9HAK2
    Secondary Accessions:
    • A0PJM4
    • A6NMF7
    • F5H645
    • Q66VZ3
    • Q6DK36
    • Q6IS86
    • Q6ISA4

    Protein attributes for EBF2 Gene

    Size:
    575 amino acids
    Molecular mass:
    62650 Da
    Quaternary structure:
    • Forms either a homodimer or a heterodimer with a related family member.
    SequenceCaution:
    • Sequence=BAB13843.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EBF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EBF2 Gene

Post-translational modifications for EBF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EBF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EBF2 Gene

Domains & Families for EBF2 Gene

Suggested Antigen Peptide Sequences for EBF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HAK2

UniProtKB/Swiss-Prot:

COE2_HUMAN :
  • Contains 1 IPT/TIG domain.
  • Belongs to the COE family.
Domain:
  • Contains 1 IPT/TIG domain.
Family:
  • Belongs to the COE family.
genes like me logo Genes that share domains with EBF2: view

No data available for Gene Families for EBF2 Gene

Function for EBF2 Gene

Molecular function for EBF2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5-ATTCCCNNGGGAATT-3 (By similarity).

Gene Ontology (GO) - Molecular Function for EBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with EBF2: view
genes like me logo Genes that share phenotypes with EBF2: view

Animal Models for EBF2 Gene

MGI Knock Outs for EBF2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EBF2 Gene

Localization for EBF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBF2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EBF2 Gene COMPARTMENTS Subcellular localization image for EBF2 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for EBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with EBF2: view

Pathways & Interactions for EBF2 Gene

SuperPathways for EBF2 Gene

No Data Available

Interacting Proteins for EBF2 Gene

Gene Ontology (GO) - Biological Process for EBF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0035563 positive regulation of chromatin binding IEA --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IBA --
genes like me logo Genes that share ontologies with EBF2: view

No data available for Pathways by source and SIGNOR curated interactions for EBF2 Gene

Drugs & Compounds for EBF2 Gene

No Compound Related Data Available

Transcripts for EBF2 Gene

Unigene Clusters for EBF2 Gene

Early B-cell factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EBF2 Gene

No ASD Table

Relevant External Links for EBF2 Gene

GeneLoc Exon Structure for
EBF2
ECgene alternative splicing isoforms for
EBF2

Expression for EBF2 Gene

mRNA expression in normal human tissues for EBF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EBF2 Gene

This gene is overexpressed in Nerve - Tibial (x8.5), Adipose - Visceral (Omentum) (x7.2), and Adipose - Subcutaneous (x5.1).

Protein differential expression in normal tissues from HIPED for EBF2 Gene

This gene is overexpressed in Pancreas (28.1), Oral epithelium (17.1), and Salivary gland (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EBF2 Gene



NURSA nuclear receptor signaling pathways regulating expression of EBF2 Gene:

EBF2

SOURCE GeneReport for Unigene cluster for EBF2 Gene:

Hs.491292
genes like me logo Genes that share expression patterns with EBF2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for EBF2 Gene

Orthologs for EBF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EBF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EBF2 34
  • 92.52 (n)
  • 99.65 (a)
EBF2 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EBF2 34
  • 92.52 (n)
  • 99.48 (a)
EBF2 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ebf2 34
  • 89.91 (n)
  • 99.48 (a)
Ebf2 16
Ebf2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EBF2 34
  • 99.59 (n)
  • 99.65 (a)
EBF2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ebf2 34
  • 89.8 (n)
  • 99.65 (a)
oppossum
(Monodelphis domestica)
Mammalia EBF2 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EBF2 35
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves EBF2 34
  • 84.06 (n)
  • 98.43 (a)
EBF2 35
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EBF2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ebf2 34
  • 78.22 (n)
  • 93.9 (a)
zebrafish
(Danio rerio)
Actinopterygii coe2 34
  • 70.77 (n)
  • 81.87 (a)
coe2 35
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kn 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-3 35
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for EBF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EBF2 Gene

ENSEMBL:
Gene Tree for EBF2 (if available)
TreeFam:
Gene Tree for EBF2 (if available)

Paralogs for EBF2 Gene

Paralogs for EBF2 Gene

(4) SIMAP similar genes for EBF2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EBF2: view

Variants for EBF2 Gene

Sequence variations from dbSNP and Humsavar for EBF2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_048754 -
rs980877 -- 26,034,516(-) TTGGA(C/T)TGGAG intron-variant
rs985087 -- 26,000,300(-) TGATG(C/G)TGTAG intron-variant
rs985532 -- 25,996,929(-) CAACA(G/T)TTTTA intron-variant
rs985533 -- 25,996,721(-) TGTCA(A/G)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EBF2 Gene

Variant ID Type Subtype PubMed ID
dgv7152n100 CNV gain 25217958
esv1009767 CNV insertion 20482838
esv1052787 CNV insertion 17803354
esv1420594 CNV insertion 17803354
esv1423053 CNV insertion 17803354
esv2500463 CNV insertion 19546169
esv2672485 CNV deletion 23128226
esv2736785 CNV deletion 23290073
esv2736786 CNV deletion 23290073
esv2759607 CNV loss 17122850
esv32961 CNV gain 17666407
esv3303141 CNV mobile element insertion 20981092
esv3310443 CNV novel sequence insertion 20981092
esv3373490 CNV insertion 20981092
esv3410016 CNV insertion 20981092
esv3616666 OTHER inversion 21293372
nsv1161746 CNV deletion 26073780
nsv476656 CNV novel sequence insertion 20440878
nsv524032 CNV loss 19592680
nsv6127 CNV insertion 18451855
nsv831272 CNV gain+loss 17160897
nsv951117 CNV deletion 24416366
nsv958496 CNV insertion 24416366

Variation tolerance for EBF2 Gene

Residual Variation Intolerance Score: 8.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EBF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EBF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EBF2 Gene

Disorders for EBF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EBF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
motor neuritis
  • peripheral motor neuropathy
kallmann syndrome
  • familial hypogonadism with anosmia
- elite association - COSMIC cancer census association via MalaCards
Search EBF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EBF2

Genetic Association Database (GAD)
EBF2
Human Genome Epidemiology (HuGE) Navigator
EBF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EBF2
genes like me logo Genes that share disorders with EBF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EBF2 Gene

Publications for EBF2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 65
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 3 4 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for EBF2 Gene

Sources for EBF2 Gene

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