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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

Promoters for EFCAB5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFCAB5 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for EFCAB5 Gene at MOPED

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

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

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for EFCAB5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFCAB5 Gene COMPARTMENTS Subcellular localization image for EFCAB5 gene
Compartment Confidence
cytosol 2
golgi apparatus 2
nucleus 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

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:

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 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



SOURCE GeneReport for Unigene cluster for EFCAB5 Gene Hs.662411

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

Protein tissue co-expression partners for EFCAB5 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia EFCAB5 35
  • 81.48 (n)
  • 71.29 (a)
EFCAB5 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB5 35
  • 83.23 (n)
  • 73.64 (a)
EFCAB5 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efcab5 35
  • 73.11 (n)
  • 63.49 (a)
Efcab5 16
Efcab5 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFCAB5 35
  • 99.31 (n)
  • 98.54 (a)
EFCAB5 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efcab5 35
  • 74.68 (n)
  • 65.32 (a)
oppossum
(Monodelphis domestica)
Mammalia EFCAB5 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB5 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB5 35
  • 56.71 (n)
  • 45.17 (a)
lizard
(Anolis carolinensis)
Reptilia EFCAB5 36
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab5 35
  • 56.68 (n)
  • 46.43 (a)
Species with no ortholog for EFCAB5:
  • 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
rs9897794 - 29,969,309(+) AGAGG(C/G/T)TGATG nc-transcript-variant, reference, missense
rs4795524 - 29,993,230(+) AATCA(A/T)AGTCA nc-transcript-variant, reference, missense
rs9900546 - 30,053,637(+) AGAAG(A/G/T)TTACT nc-transcript-variant, reference, missense
rs9894896 - 30,082,898(+) TGTTG(A/C)TAATG nc-transcript-variant, reference, missense
VAR_048645 -

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

Variant ID Type Subtype PubMed ID
dgv3137n71 CNV Loss 21882294
esv2670816 CNV Deletion 23128226
esv2655258 CNV Insertion 19546169
esv2715805 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
EFCAB5
Human Gene Mutation Database (HGMD)
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 67
  2. 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
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3

Products for EFCAB5 Gene

Sources for EFCAB5 Gene

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