Aliases for EFHB Gene

Aliases for EFHB Gene

  • EF-Hand Domain Family Member B 2 3 5
  • EF-Hand Domain-Containing Family Member B 3 4
  • Cilia And Flagella Associated Protein 21 2 3
  • CFAP21 2 3
  • EF-Hand Domain Family, Member B 2
  • FLJ25200 2
  • EFHB 5

External Ids for EFHB Gene

Previous GeneCards Identifiers for EFHB Gene

  • GC03M019896

Summaries for EFHB Gene

GeneCards Summary for EFHB Gene

EFHB (EF-Hand Domain Family Member B) is a Protein Coding gene. Diseases associated with EFHB include Type 1 Diabetes Mellitus 5 and Type 1 Diabetes Mellitus 12. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.

UniProtKB/Swiss-Prot Summary for EFHB Gene

  • Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion, the activation of store-operated Ca(2+) entry (SOCE) and NFAT translocation from cytosol to nucleus.

Additional gene information for EFHB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFHB Gene

Genomics for EFHB Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 678.8 -0.1 -121 4.7 CEBPG SP1 CREB1 GATAD2A HNRNPL TEAD4 PRDM10 ZNF629 TFE3 LEF1 EFHB NONHSAG034575.2 RAB5A lnc-EFHB-2 KAT2B PP2D1 piR-50968-078
GH03J019934 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 608.8 +13.2 13214 0.6 ARHGAP35 ZNF512 RFX1 LEF1 IKZF1 JUND PRDM1 MTA2 PKNOX1 MTA1 EFHB KAT2B PP2D1 HSPA8P18 RAB5A lnc-PP2D1-1 KCNH8
GH03J020038 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -94.5 -94468 7.6 HNRNPL GATAD2A CTCF PRDM10 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 BACH1 KAT2B EFHB RAB5A piR-57387-034 SGO1
GH03J020022 Enhancer 1.1 Ensembl ENCODE 21.9 -76.2 -76187 3.8 ZNF512 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 MTA1 NR2C1 ZNF740 RF00017-3938 EFHB PP2D1 RF00017-3937 KAT2B
GH03J020013 Enhancer 0.8 Ensembl 25.3 -67.0 -66987 2.6 LEF1 IKZF1 MTA2 ZNF24 DPF2 HDAC1 SOX6 TCF12 EP300 CBX3 RF00017-3937 EFHB KCNH8 PP2D1 RPL39P18 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFHB

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

Genomic Locations for EFHB Gene

Genomic Locations for EFHB Gene
chr3:19,879,472-19,947,514
(GRCh38/hg38)
Size:
68,043 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:
    • Interacts with STIM1 and ORAI1; the interactions take place upon Ca(2+)-store depletion and dissociate through a Ca(2+)-dependent mechanism. Interaction with STIM1 inhibits STIM1 interaction with SARAF.
    SequenceCaution:
    • Sequence=AAH28198.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71614.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:
  • EF-hand domain-containing family member B (EFHB_HUMAN)
genes like me logo Genes that share domains with EFHB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFHB Gene

Function for EFHB Gene

Molecular function for EFHB Gene

UniProtKB/Swiss-Prot Function:
Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion, the activation of store-operated Ca(2+) entry (SOCE) and NFAT translocation from cytosol to nucleus.

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:0005515 protein binding IPI 30481768
GO:0046872 metal ion binding IEA --
GO:0061891 calcium ion sensor activity IMP 30481768
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

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

Localization for EFHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFHB Gene

Cytoplasm.

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
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EFHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with EFHB: view

Pathways & Interactions for EFHB Gene

PathCards logo

SuperPathways for EFHB Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0032091 negative regulation of protein binding IMP 30481768
GO:0070884 regulation of calcineurin-NFAT signaling cascade IMP 30481768
GO:2001256 regulation of store-operated calcium entry IMP 30481768
genes like me logo Genes that share ontologies with EFHB: view

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

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for EFHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EFHB 30 31
  • 86.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFHB 30 31
  • 83.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Efhb 30 17 31
  • 78.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Efhb 30
  • 78.27 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EFHB 31
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EFHB 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EFHB 30 31
  • 68.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EFHB 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia efhb 30
  • 57.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii efhb 30 31
  • 56.77 (n)
OneToOne
Species where no ortholog for EFHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Paralogs for EFHB Gene

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

Variants for EFHB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFHB Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
712993 Likely Benign: not provided 19,896,743(-) T/G MISSENSE_VARIANT
713566 Likely Benign: not provided 19,882,592(-) T/G SYNONYMOUS_VARIANT
rs11917204 - p.Arg826Trp
rs13078867 - p.Pro269Ser
rs17795400 - p.Gly99Val

Additional dbSNP identifiers (rs#s) for EFHB Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for EFHB Gene - From: DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 5
  • diabetes mellitus, insulin-dependent, 5
type 1 diabetes mellitus 12
  • diabetes mellitus, insulin-dependent, 12
- elite association - COSMIC cancer census association via MalaCards
Search EFHB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFHB

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

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

Publications for EFHB Gene

  1. EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction. (PMID: 30481768) Albarran L … Rosado JA (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018) 2 3 4
  2. 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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3

Products for EFHB Gene

Sources for EFHB Gene