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Aliases for EFCAB3 Gene

Aliases for EFCAB3 Gene

  • EF-Hand Calcium Binding Domain 3 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 3 3

External Ids for EFCAB3 Gene

Previous GeneCards Identifiers for EFCAB3 Gene

  • GC17P057816
  • GC17P060447
  • GC17P055814

Summaries for EFCAB3 Gene

GeneCards Summary for EFCAB3 Gene

EFCAB3 (EF-Hand Calcium Binding Domain 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is SPATA21.

Additional gene information for EFCAB3 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 EFCAB3 Gene

Genomics for EFCAB3 Gene

GeneHancer (GH) Regulatory Elements for EFCAB3 Gene

Promoters and enhancers for EFCAB3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J062381 Promoter 0.6 EPDnew 650.3 +37.8 37812 0.1 YBX1 GC17P062384 LOC105371854 RPLP2P5 RNU7-52P EFCAB3
GH17J062062 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 14.6 -279.4 -279446 4.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MED13 TBC1D3P2 USP32P4 EFCAB3 RPLP2P5 RPS23P7 LOC101927877 TRMT112P3 RPS10P26 TLK2
GH17J061926 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.6 -416.4 -416445 2.5 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SSRP1 INTS2 MED13 RPS10P26 TLK2 TBC1D3P2 USP32P4 RPLP2P5 EFCAB3 RPS23P7 LOC101927877
GH17J062965 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.6 +623.2 623232 4.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF766 TANC2 ENSG00000283538 ENSG00000266411 CYB561 CSH2 TRMT112P3 LOC100419888 LOC101927877 ENSG00000263501 RPLP2P5
GH17J062163 Enhancer 1 ENCODE 11.2 -179.0 -179017 3.1 PKNOX1 FOXA2 MLX NEUROD1 SIN3A ZBTB7B IRF4 YY1 GTF3C2 TCF12 MED13 RPS10P26 EFCAB3 RNU7-52P RPLP2P5 RPS23P7 POLRMTP1 GC17P062238
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB3 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • c-Myb
  • NF-AT1
  • NF-AT4
  • NF-AT3
  • NF-AT2
  • NF-AT
  • Lhx3a
  • LHX3b

Genomic Locations for EFCAB3 Gene

Genomic Locations for EFCAB3 Gene
72,539 bases
Plus strand
46,262 bases
Plus strand

Genomic View for EFCAB3 Gene

Genes around EFCAB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB3 Gene

Proteins for EFCAB3 Gene

  • Protein details for EFCAB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    EF-hand calcium-binding domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • J3KQM8

    Protein attributes for EFCAB3 Gene

    438 amino acids
    Molecular mass:
    50147 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EFCAB3 Gene


neXtProt entry for EFCAB3 Gene

Post-translational modifications for EFCAB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB3 Gene

No data available for DME Specific Peptides for EFCAB3 Gene

Domains & Families for EFCAB3 Gene

Gene Families for EFCAB3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB3 Gene

Suggested Antigen Peptide Sequences for EFCAB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB3: view

No data available for UniProtKB/Swiss-Prot for EFCAB3 Gene

Function for EFCAB3 Gene

Gene Ontology (GO) - Molecular Function for EFCAB3 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 EFCAB3: view
genes like me logo Genes that share phenotypes with EFCAB3: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB3 Gene

Localization for EFCAB3 Gene

Subcellular locations from

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 EFCAB3 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for EFCAB3 Gene

Pathways & Interactions for EFCAB3 Gene

SuperPathways for EFCAB3 Gene

No Data Available

Interacting Proteins for EFCAB3 Gene

Gene Ontology (GO) - Biological Process for EFCAB3 Gene


No data available for Pathways by source and SIGNOR curated interactions for EFCAB3 Gene

Drugs & Compounds for EFCAB3 Gene

No Compound Related Data Available

Transcripts for EFCAB3 Gene

mRNA/cDNA for EFCAB3 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFCAB3 Gene

EF-hand calcium binding domain 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB3 Gene

No ASD Table

Relevant External Links for EFCAB3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EFCAB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB3 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB3 Gene

This gene is overexpressed in Testis (x50.3).

Protein differential expression in normal tissues from HIPED for EFCAB3 Gene

This gene is overexpressed in Cerebrospinal fluid (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB3 Gene

Protein tissue co-expression partners for EFCAB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB3 Gene:


SOURCE GeneReport for Unigene cluster for EFCAB3 Gene:


Evidence on tissue expression from TISSUES for EFCAB3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EFCAB3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB3 Gene

Orthologs for EFCAB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EFCAB3 34 33
  • 99.39 (n)
(Canis familiaris)
Mammalia EFCAB3 34 33
  • 87.15 (n)
(Bos Taurus)
Mammalia EFCAB3 34 33
  • 86.91 (n)
(Rattus norvegicus)
Mammalia Efcab3 33
  • 76.85 (n)
(Mus musculus)
Mammalia Efcab3 16 34 33
  • 76.39 (n)
(Ornithorhynchus anatinus)
Mammalia EFCAB3 34
  • 33 (a)
(Monodelphis domestica)
Mammalia EFCAB3 34
  • 5 (a)
(Gallus gallus)
Aves EFCAB3 33
  • 47.59 (n)
-- 34
  • 31 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
Species where no ortholog for EFCAB3 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EFCAB3 Gene

Gene Tree for EFCAB3 (if available)
Gene Tree for EFCAB3 (if available)
Evolutionary constrained regions (ECRs) for EFCAB3: view image

Paralogs for EFCAB3 Gene

Paralogs for EFCAB3 Gene

(1) SIMAP similar genes for EFCAB3 Gene using alignment to 3 proteins:

  • E5RJB7_HUMAN Pseudogenes for EFCAB3 Gene

genes like me logo Genes that share paralogs with EFCAB3: view

Variants for EFCAB3 Gene

Sequence variations from dbSNP and Humsavar for EFCAB3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000038665 -- 62,376,025(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000156402 -- 62,375,995(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000211216 -- 62,369,768(+) T/C upstream_transcript_variant
rs1000259929 -- 62,389,218(+) C/G intron_variant
rs1000305907 -- 62,370,091(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB3 Gene

Variant ID Type Subtype PubMed ID
dgv561e199 CNV deletion 23128226
esv2674408 CNV deletion 23128226
esv2758701 CNV gain+loss 17122850
esv3573775 CNV gain 25503493
esv3640971 CNV loss 21293372
esv3640972 CNV loss 21293372
esv3640974 CNV gain 21293372
nsv1109099 CNV deletion 24896259
nsv428350 CNV gain 18775914
nsv476233 CNV novel sequence insertion 20440878
nsv575845 CNV loss 21841781
nsv833508 CNV gain+loss 17160897
nsv962358 CNV duplication 23825009

Variation tolerance for EFCAB3 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.28; 81.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB3 Gene

Disorders for EFCAB3 Gene

Additional Disease Information for EFCAB3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EFCAB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB3 Gene

Publications for EFCAB3 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. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58

Products for EFCAB3 Gene

Sources for EFCAB3 Gene

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