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Aliases for EFCAB13 Gene

Aliases for EFCAB13 Gene

  • EF-Hand Calcium Binding Domain 13 2 3
  • C17orf57 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 13 3
  • EF-Hand Domain-Containing Protein C17orf57 3
  • Chromosome 17 Open Reading Frame 57 2

External Ids for EFCAB13 Gene

Previous Symbols for EFCAB13 Gene

  • C17orf57

Summaries for EFCAB13 Gene

GeneCards Summary for EFCAB13 Gene

EFCAB13 (EF-Hand Calcium Binding Domain 13) 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 EFCAB13 Gene

Genomics for EFCAB13 Gene

Genomic Location for EFCAB13 Gene

Start:
47,323,290 bp from pter
End:
47,441,312 bp from pter
Size:
118,023 bases
Orientation:
Plus strand

Genomic View for EFCAB13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFCAB13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB13 Gene

No data available for Regulatory Elements for EFCAB13 Gene

Proteins for EFCAB13 Gene

  • Protein details for EFCAB13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY85-EFC13_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 13
    Protein Accession:
    Q8IY85
    Secondary Accessions:
    • G3V128
    • Q49AG9

    Protein attributes for EFCAB13 Gene

    Size:
    973 amino acids
    Molecular mass:
    110129 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH37876.1; Type=Frameshift; Positions=342; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCAB13 Gene

Proteomics data for EFCAB13 Gene at MOPED

Post-translational modifications for EFCAB13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB13 Gene

No data available for DME Specific Peptides for EFCAB13 Gene

Domains for EFCAB13 Gene

Gene Families for EFCAB13 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for EFCAB13 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IY85

UniProtKB/Swiss-Prot:

EFC13_HUMAN
Domain:
  • Contains 6 EF-hand domains.:
    • Q8IY85
genes like me logo Genes that share domains with EFCAB13: view

No data available for Suggested Antigen Peptide Sequences for EFCAB13 Gene

Function for EFCAB13 Gene

Gene Ontology (GO) - Molecular Function for EFCAB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
genes like me logo Genes that share ontologies with EFCAB13: view

miRNA for EFCAB13 Gene

miRTarBase miRNAs that target EFCAB13

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for EFCAB13 Gene

Localization for EFCAB13 Gene

Gene Ontology (GO) - Cellular Components for EFCAB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with EFCAB13: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for EFCAB13 Gene

Pathways for EFCAB13 Gene

SuperPathways for EFCAB13 Gene

No Data Available

Interacting Proteins for EFCAB13 Gene

Gene Ontology (GO) - Biological Process for EFCAB13 Gene

None

No data available for Pathways by source for EFCAB13 Gene

Transcripts for EFCAB13 Gene

Unigene Clusters for EFCAB13 Gene

EF-hand calcium binding domain 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB13 Gene

No ASD Table

Relevant External Links for EFCAB13 Gene

GeneLoc Exon Structure for
EFCAB13
ECgene alternative splicing isoforms for
EFCAB13

Expression for EFCAB13 Gene

mRNA expression in normal human tissues for EFCAB13 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB13 Gene

This gene is overexpressed in Testis (4.5) and Thyroid (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EFCAB13 Gene

SOURCE GeneReport for Unigene cluster for EFCAB13 Gene Hs.463303

genes like me logo Genes that share expressions with EFCAB13: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for EFCAB13 Gene

Orthologs for EFCAB13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB13 35
  • 99.11 (n)
  • 97.84 (a)
EFCAB13 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFCAB13 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB13 35
  • 82.61 (n)
  • 66.82 (a)
EFCAB13 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11639 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB13 36
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB13 36
  • 20 (a)
OneToOne
Species with no ortholog for EFCAB13:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 EFCAB13 Gene

ENSEMBL:
Gene Tree for EFCAB13 (if available)
TreeFam:
Gene Tree for EFCAB13 (if available)

Paralogs for EFCAB13 Gene

Selected SIMAP similar genes for EFCAB13 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EFCAB13: view

No data available for Paralogs for EFCAB13 Gene

Variants for EFCAB13 Gene

Sequence variations from dbSNP and Humsavar for EFCAB13 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1128517 -- 47,368,926(+) AAAAT(A/G)GCTCT intron-variant
rs1579117 -- 47,354,384(+) tgtta(A/G)atcaa intron-variant
rs1856464 -- 47,436,074(-) aataa(A/C)tgtga intron-variant
rs1912480 -- 47,410,069(+) TTGTA(A/G)TCTGT intron-variant
rs1912481 -- 47,339,631(-) TAACA(C/T)AAACA intron-variant

Relevant External Links for EFCAB13 Gene

HapMap Linkage Disequilibrium report
EFCAB13
Human Gene Mutation Database (HGMD)
EFCAB13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EFCAB13 Gene

Disorders for EFCAB13 Gene

No disorders were found for EFCAB13 Gene.

No data available for UniProtKB/Swiss-Prot for EFCAB13 Gene

Publications for EFCAB13 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3
  4. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4

Products for EFCAB13 Gene

Sources for EFCAB13 Gene

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