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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.

Additional gene information for EFCAB5 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 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
GH17H029849 1 Ensembl ENCODE 11.3 -79.1 -79107 1 JUN BATF EED FOS ATF7 CREM MAFK IKZF2 JUNB DPF2 CORO6 ENSG00000239129 EFCAB5 SSH2 RPL9P30 ENSG00000252657
GH17H029835 1 Ensembl ENCODE 11.1 -92.8 -92813 2 PKNOX1 BACH1 CEBPG GATA3 ZNF316 NFE2 MAFK SOX6 MAFG CEBPB CORO6 ENSG00000239129 SSH2 EFCAB5 RPL9P30 ENSG00000252657
GH17H030343 2 FANTOM5 Ensembl ENCODE dbSUPER 4.8 +416.0 415992 3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 BLMH RNU6-1267P TBC1D29 CPD EFCAB5 NSRP1 GC17M030345 ENSG00000207132 GC17P030362
GH17H029824 0.8 ENCODE 11.4 -103.6 -103624 2 ELF3 SOX13 FOXA2 MAX YY1 ZNF664 POLR2A HNF4G HOMEZ RFX1 ENSG00000252657 SSH2 EFCAB5 ENSG00000239129 RNU6-920P TP53I13 RPL9P30
GH17H029844 0.7 ENCODE 11.6 -84.5 -84484 0 NFIB GFI1B ZBTB8A ZFHX2 NFIC PRDM6 ZSCAN5C SCRT2 ZNF24 PRDM1 ENSG00000239129 EFCAB5 SSH2 RNU6-920P RPL9P30 ENSG00000252657
- 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
ENSR00000092939 700 2601 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB5 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for EFCAB5 Gene

Function for EFCAB5 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EFCAB5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for EFCAB5 Gene

No Compound Related Data Available

Transcripts for EFCAB5 Gene

Unigene Clusters for EFCAB5 Gene

EF-hand calcium binding domain 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EFCAB5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for EFCAB5 Gene

  • Nervous system(4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia EFCAB5 33 34
  • 83.23 (n)
cow
(Bos Taurus)
Mammalia EFCAB5 33 34
  • 81.48 (n)
rat
(Rattus norvegicus)
Mammalia Efcab5 33
  • 74.68 (n)
mouse
(Mus musculus)
Mammalia Efcab5 33 16 34
  • 73.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB5 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCAB5 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB5 33
  • 56.71 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB5 34
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab5 33
  • 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
rs1000001681 -- 29,932,190(+) TTGCC(A/C)CCCAG intron-variant, upstream-variant-2KB
rs1000008821 -- 30,097,669(+) AAGAT(G/T)CAATG intron-variant
rs1000024923 -- 29,930,338(+) CGTGC(G/T)CCTCG intron-variant, upstream-variant-2KB
rs1000064949 -- 30,030,587(+) ATCCG(C/T)CCACC intron-variant
rs1000068039 -- 30,083,643(+) GAGGC(A/G)GGGTT intron-variant

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

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

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. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  2. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. (PMID: 25288136) Coffee and Caffeine Genetics Consortium … Chasman DI (Molecular psychiatry 2015) 3 60
  3. Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma. (PMID: 21509594) Igci YZ … Demiryurek AT (Endocrine pathology 2011) 3 60
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4 60
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 60

Products for EFCAB5 Gene

Sources for EFCAB5 Gene

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