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Aliases for EFHB Gene

Aliases for EFHB Gene

  • EF-Hand Domain Family Member B 2 3 5
  • Cilia And Flagella Associated Protein 21 2 3
  • EF-Hand Domain-Containing Family Member B 3
  • EF-Hand Domain Family, Member B 2
  • CFAP21 3

External Ids for EFHB Gene

Summaries for EFHB Gene

GeneCards Summary for EFHB Gene

EFHB (EF-Hand Domain Family Member B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EFHB Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHB Gene

Genomics for EFHB Gene

GeneHancer (GH) Regulatory Elements for EFHB Gene

Promoters and enhancers for EFHB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J019945 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 728.9 +0.2 162 4.1 MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D SSRP1 EFHB RAB5A KAT2B PP2D1
GH03J019934 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 658.8 +13.3 13306 0.3 PKNOX1 ARNT ETS1 ZNF280A TCF12 POLR2B E2F8 ARID2 ZNF207 MCM3 EFHB KAT2B PP2D1 GC03P019936 GC03P019924
GH03J020038 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 -94.5 -94534 7.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B IRF4 YY1 POLR2B KAT2B EFHB RAB5A GC03M020054
GH03J019930 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16.5 +15.9 15855 1.6 HDGF PKNOX1 ARNT IRF4 ZNF766 GATA2 ARID2 FOS ATF7 RUNX3 EFHB RAB5A KAT2B GC03P019936 GC03P019924
GH03J020022 Enhancer 1.2 Ensembl ENCODE 17.3 -76.3 -76271 1.5 HDGF PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 CBX5 GATA2 EFHB PP2D1 GC03P020015 KAT2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFHB gene promoter:
  • SRF (504 AA)
  • SRF
  • E2F-2
  • E2F
  • E2F-1
  • E2F-3a
  • E2F-4
  • E2F-5
  • MRF-2
  • GATA-1

Genomic Locations for EFHB Gene

Genomic Locations for EFHB Gene
chr3:19,879,472-19,947,456
(GRCh38/hg38)
Size:
67,985 bases
Orientation:
Minus strand
chr3:19,920,964-19,988,517
(GRCh37/hg19)
Size:
67,554 bases
Orientation:
Minus strand

Genomic View for EFHB Gene

Genes around EFHB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EFHB Gene

Proteins for EFHB Gene

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

    Protein Symbol:
    Q8N7U6-EFHB_HUMAN
    Recommended name:
    EF-hand domain-containing family member B
    Protein Accession:
    Q8N7U6
    Secondary Accessions:
    • A6ND25
    • A8MPR3
    • Q6ZWK9
    • Q8IV58
    • Q96LQ6

    Protein attributes for EFHB Gene

    Size:
    833 amino acids
    Molecular mass:
    93802 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH28198.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71614.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for EFHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFHB Gene

Post-translational modifications for EFHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFHB Gene

Domains & Families for EFHB Gene

Gene Families for EFHB Gene

Protein Domains for EFHB Gene

Suggested Antigen Peptide Sequences for EFHB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFHB: view

No data available for UniProtKB/Swiss-Prot for EFHB Gene

Function for EFHB Gene

Phenotypes From GWAS Catalog for EFHB Gene

Gene Ontology (GO) - Molecular Function for EFHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFHB: view
genes like me logo Genes that share phenotypes with EFHB: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHB

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFHB Gene

Localization for EFHB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFHB gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFHB Gene

Pathways & Interactions for EFHB Gene

No Data Available

Interacting Proteins for EFHB Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000295824%0d%0a9606.ENSP00000348496%0d%0a9606.ENSP00000297325%0d%0a9606.ENSP00000303178%0d%0a9606.ENSP00000302968%0d%0a9606.ENSP00000250838%0d%0a
Selected Interacting proteins: ENSP00000295824 Q8N7U6-EFHB_HUMAN for EFHB Gene via STRING IID

Gene Ontology (GO) - Biological Process for EFHB Gene

None

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

Drugs & Compounds for EFHB Gene

No Compound Related Data Available

Transcripts for EFHB Gene

mRNA/cDNA for EFHB Gene

Unigene Clusters for EFHB Gene

EF-hand domain family, member B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHB

Clone Products

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: -
SP3: -

Relevant External Links for EFHB Gene

GeneLoc Exon Structure for
EFHB
ECgene alternative splicing isoforms for
EFHB

Expression for EFHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFHB Gene



NURSA nuclear receptor signaling pathways regulating expression of EFHB Gene:

EFHB

SOURCE GeneReport for Unigene cluster for EFHB Gene:

Hs.733920

Evidence on tissue expression from TISSUES for EFHB Gene

  • Kidney(4.9)
  • Lung(4.1)
  • Intestine(3.9)
genes like me logo Genes that share expression patterns with EFHB: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFHB Gene

Orthologs for EFHB Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFHB 34 33
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EFHB 34 33
  • 86.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EFHB 34 33
  • 83.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Efhb 16 34 33
  • 78.54 (n)
rat
(Rattus norvegicus)
Mammalia Efhb 33
  • 78.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFHB 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFHB 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFHB 34 33
  • 68.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFHB 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efhb 33
  • 57.63 (n)
zebrafish
(Danio rerio)
Actinopterygii efhb 34 33
  • 56.77 (n)
OneToOne
Species where no ortholog for EFHB 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for EFHB Gene

ENSEMBL:
Gene Tree for EFHB (if available)
TreeFam:
Gene Tree for EFHB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFHB: view image

Paralogs for EFHB Gene

No data available for Paralogs for EFHB Gene

Variants for EFHB Gene

Sequence variations from dbSNP and Humsavar for EFHB Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000046787 -- 19,896,370(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000126061 -- 19,883,513(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000162183 -- 19,931,491(-) G/C intron_variant
rs1000179100 -- 19,925,190(-) C/T intron_variant
rs1000236300 -- 19,931,257(-) A/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv23068 CNV gain+loss 19812545
esv35078 CNV gain 17911159
esv3595465 CNV loss 21293372
esv3595469 CNV loss 21293372
esv3893667 CNV gain 25118596
nsv1003183 CNV loss 25217958
nsv1010123 CNV gain 25217958
nsv433358 CNV gain 18776910

Variation tolerance for EFHB Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.41; 94.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFHB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EFHB Gene

Additional Disease Information for EFHB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EFHB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFHB Gene

Publications for EFHB Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58

Products for EFHB Gene

Sources for EFHB Gene

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