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Aliases for EFCAB3 Gene

Aliases for EFCAB3 Gene

  • EF-Hand Calcium Binding Domain 3 2 3 5

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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I062380 Promoter 0.6 EPDnew 550.3 +36.6 36596 0.1 MNT LOC105371854 RPLP2P5 EFCAB3
GH17I062381 Promoter 0.6 EPDnew 550.3 +37.8 37812 0.1 YBX1 GC17P062384 LOC105371854 RPLP2P5 RNU7-52P EFCAB3
GH17I062163 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
GH17I062092 Enhancer 1 Ensembl ENCODE 10 -250.2 -250163 1.9 HDGF PKNOX1 FOXA2 BMI1 BATF KLF5 IRF4 YY1 ATF7 RCOR1 EFCAB3 RNU7-52P RPLP2P5 RPS23P7 NACA2 MED13 GC17P062102
GH17I062750 Enhancer 0.9 FANTOM5 ENCODE 9.8 +406.7 406724 0.6 SUZ12 ZIC2 ZBTB7B RFX5 ZKSCAN1 GATA3 POLR2A ZNF207 FOSL2 EZH2 MARCH10 EFCAB3 GC17P062742 GC17M062752 LOC105371855
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB3 gene promoter:

Genomic Locations for EFCAB3 Gene

Genomic Locations for EFCAB3 Gene
chr17:62,343,941-62,416,479
(GRCh38/hg38)
Size:
72,539 bases
Orientation:
Plus strand
chr17:60,447,579-60,493,840
(GRCh37/hg19)

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:
    Q8N7B9-EFCB3_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 3
    Protein Accession:
    Q8N7B9
    Secondary Accessions:
    • J3KQM8

    Protein attributes for EFCAB3 Gene

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

    Alternative splice isoforms for EFCAB3 Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
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

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

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 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

None

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
EFCAB3
ECgene alternative splicing isoforms for
EFCAB3

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, PaxDb, and MOPED for EFCAB3 Gene



Protein tissue co-expression partners for EFCAB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB3 Gene:

EFCAB3

SOURCE GeneReport for Unigene cluster for EFCAB3 Gene:

Hs.152670

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
chimpanzee
(Pan troglodytes)
Mammalia EFCAB3 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia EFCAB3 33 34
  • 87.15 (n)
cow
(Bos Taurus)
Mammalia EFCAB3 33 34
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Efcab3 33
  • 76.85 (n)
mouse
(Mus musculus)
Mammalia Efcab3 33 16 34
  • 76.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB3 34
  • 33 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCAB3 34
  • 5 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB3 33
  • 47.59 (n)
-- 34
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EFCAB3 (if available)
TreeFam:
Gene Tree for EFCAB3 (if available)

Paralogs for EFCAB3 Gene

Paralogs for EFCAB3 Gene

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

Pseudogenes.org 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)
EFCAB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB3

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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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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