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Aliases for EFCAB5 Gene

Aliases for EFCAB5 Gene

  • EF-Hand Calcium Binding Domain 5 2 3 5

External Ids for EFCAB5 Gene

Previous GeneCards Identifiers for EFCAB5 Gene

  • GC17P025292
  • GC17P028256
  • GC17P024466

Summaries for EFCAB5 Gene

GeneCards Summary for EFCAB5 Gene

EFCAB5 (EF-Hand Calcium Binding Domain 5) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB5 Gene

Genomics for EFCAB5 Gene

Regulatory Elements for EFCAB5 Gene

Enhancers for EFCAB5 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
GH17F029848 1 Ensembl ENCODE 11.3 -79.3 -79292 2.2 JUN CEBPG EED FOS CREM MAFK MTA2 BHLHE40 JUNB ZEB2 CORO6 ENSG00000239129 EFCAB5 SSH2 RPL9P30 ENSG00000252657
GH17F029835 1 Ensembl ENCODE 11.1 -92.3 -92309 3.0 ESRRA BACH1 ZNF316 NFE2 NR2F6 MAFK NFE2L2 NR2F1 CEBPB MAFG CORO6 ENSG00000239129 EFCAB5 SSH2 ANKRD13B RPL9P30 ENSG00000252657
GH17F029838 0.8 Ensembl ENCODE 11.7 -90.2 -90200 0.8 ZNF680 RFX1 ZBTB48 RFX3 MYNN ZNF600 EFCAB5 SSH2 ENSG00000239129 RPL9P30 ENSG00000252657
GH17F029847 0.8 Ensembl 11.3 -81.1 -81100 1.0 TBP PKNOX1 FEZF1 GATA3 ZFHX2 SCRT2 EGR2 ZNF263 SCRT1 RFX1 NUFIP2 ENSG00000239129 EFCAB5 SSH2 PHF12 RPL9P30 ENSG00000252657
GH17F030343 1.7 FANTOM5 Ensembl ENCODE 4.8 +416.0 416005 4.0 PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 GATA2 BLMH RNU6-1267P TBC1D29 CPD EFCAB5 NSRP1 ENSG00000207132 GC17M030345 GC17P030362
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCAB5 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001343764 700 3001 HDGF PKNOX1 ARNT WRNIP1 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF143

Genomic Location for EFCAB5 Gene

Chromosome:
17
Start:
29,929,200 bp from pter
End:
30,108,452 bp from pter
Size:
179,253 bases
Orientation:
Plus strand

Genomic View for EFCAB5 Gene

Genes around EFCAB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB5 Gene

Proteins for EFCAB5 Gene

  • Protein details for EFCAB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4FU69-EFCB5_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 5
    Protein Accession:
    A4FU69
    Secondary Accessions:
    • B2RPN0
    • B4DS75
    • B4DZR5
    • F5GYL2
    • Q0VD68
    • Q6ZRM6
    • Q8NDG9

    Protein attributes for EFCAB5 Gene

    Size:
    1503 amino acids
    Molecular mass:
    173404 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC87284.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB5 Gene

neXtProt entry for EFCAB5 Gene

Post-translational modifications for EFCAB5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB5 Gene

Domains & Families for EFCAB5 Gene

Gene Families for EFCAB5 Gene

Protein Domains for EFCAB5 Gene

Graphical View of Domain Structure for InterPro Entry

A4FU69

UniProtKB/Swiss-Prot:

EFCB5_HUMAN :
  • Contains 1 EF-hand domain.
Domain:
  • Contains 1 EF-hand domain.
genes like me logo Genes that share domains with EFCAB5: view

Function for EFCAB5 Gene

Gene Ontology (GO) - Molecular Function for EFCAB5 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 EFCAB5: view
genes like me logo Genes that share phenotypes with EFCAB5: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFCAB5 Gene

Localization for EFCAB5 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 EFCAB5 gene
Compartment Confidence
nucleus 2
cytosol 2
golgi apparatus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB5 Gene

Pathways & Interactions for EFCAB5 Gene

SuperPathways for EFCAB5 Gene

No Data Available

Interacting Proteins for EFCAB5 Gene

Gene Ontology (GO) - Biological Process for EFCAB5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB5 Gene

Transcripts for EFCAB5 Gene

Unigene Clusters for EFCAB5 Gene

EF-hand calcium binding domain 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - - - -
SP2: -
SP3:

Relevant External Links for EFCAB5 Gene

GeneLoc Exon Structure for
EFCAB5
ECgene alternative splicing isoforms for
EFCAB5

Expression for EFCAB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB5 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB5 Gene

This gene is overexpressed in Testis (x23.3).

Protein differential expression in normal tissues from HIPED for EFCAB5 Gene

This gene is overexpressed in Plasma (19.9), Liver (17.9), Monocytes (12.4), and Platelet (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB5 Gene



Protein tissue co-expression partners for EFCAB5 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB5 Gene:

EFCAB5

SOURCE GeneReport for Unigene cluster for EFCAB5 Gene:

Hs.662411
genes like me logo Genes that share expression patterns with EFCAB5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for EFCAB5 Gene

Orthologs for EFCAB5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB5 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia EFCAB5 34 35
  • 83.23 (n)
cow
(Bos Taurus)
Mammalia EFCAB5 34 35
  • 81.48 (n)
rat
(Rattus norvegicus)
Mammalia Efcab5 34
  • 74.68 (n)
mouse
(Mus musculus)
Mammalia Efcab5 34 16 35
  • 73.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB5 35
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCAB5 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB5 34
  • 56.71 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB5 35
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab5 34
  • 56.68 (n)
Species where no ortholog for EFCAB5 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)
  • zebrafish (Danio rerio)

Evolution for EFCAB5 Gene

ENSEMBL:
Gene Tree for EFCAB5 (if available)
TreeFam:
Gene Tree for EFCAB5 (if available)

Paralogs for EFCAB5 Gene

(2) SIMAP similar genes for EFCAB5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with EFCAB5: view

No data available for Paralogs for EFCAB5 Gene

Variants for EFCAB5 Gene

Sequence variations from dbSNP and Humsavar for EFCAB5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10853136 -- 30,079,000(+) TAGAA(C/T)GCATG intron-variant
rs11080111 -- 30,017,694(+) aaaac(C/T)acata intron-variant
rs11080114 -- 30,080,269(+) GGTTT(C/T)ACCCT intron-variant
rs11080115 -- 30,081,052(+) TGAAA(C/T)CTGAA intron-variant, downstream-variant-500B
rs11080116 -- 30,091,747(+) AAAGG(A/C)TATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB5 Gene

Variant ID Type Subtype PubMed ID
esv3640333 CNV loss 21293372
esv3640332 CNV loss 21293372
esv3640331 CNV gain 21293372
esv3640330 CNV loss 21293372
esv3582598 CNV loss 25503493
esv3554302 CNV deletion 23714750
esv2715805 CNV deletion 23290073
esv2670816 CNV deletion 23128226
esv2655258 CNV insertion 19546169
dgv5518n54 CNV loss 21841781

Variation tolerance for EFCAB5 Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB5 Gene

Human Gene Mutation Database (HGMD)
EFCAB5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB5 Gene

Disorders for EFCAB5 Gene

Relevant External Links for EFCAB5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB5

No disorders were found for EFCAB5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB5 Gene

Publications for EFCAB5 Gene

  1. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. (PMID: 25288136) . … Chasman D.I. (Mol. Psychiatry 2015) 3 64
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  3. Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma. (PMID: 21509594) Igci Y.Z. … Demiryurek A.T. (Endocr. Pathol. 2011) 3 64
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 4 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for EFCAB5 Gene

Sources for EFCAB5 Gene

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