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Aliases for EFCAB13 Gene

Aliases for EFCAB13 Gene

  • EF-Hand Calcium Binding Domain 13 2 3 5
  • 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 HGNC Symbols for EFCAB13 Gene

  • C17orf57

Previous GeneCards Identifiers for EFCAB13 Gene

  • GC17P045404

Summaries for EFCAB13 Gene

GeneCards Summary for EFCAB13 Gene

EFCAB13 (EF-Hand Calcium Binding Domain 13) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EFCAB13 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 EFCAB13 Gene

Genomics for EFCAB13 Gene

GeneHancer (GH) Regulatory Elements for EFCAB13 Gene

Promoters and enhancers for EFCAB13 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
GH17I047323 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.3 +1.0 975 2.3 HDGF PKNOX1 SMAD1 ARNT MLX ZFP64 SIN3A DMAP1 YBX1 ZBTB7B EFCAB13 THCAT158 MRPL45P2 RPS7P11 ARL17A ARL17B TBKBP1 ENSG00000264701 RNU7-186P LRRC37A2
GH17I047941 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 81.7 +618.6 618567 2 CLOCK MLX DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 SP3 SP2-AS1 PNPO MRPL45P2 UBE2Z EFCAB13 SP2 ENSG00000264701 ENSG00000266601 CDK5RAP3 RPS2P47
GH17I047647 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.2 +326.8 326795 4.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 KPNB1 ENSG00000263766 SP2 ENSG00000266601 EFCAB13 ENSG00000264701 MRPL45P2 ENSG00000253347 TBKBP1 RPS2P47
GH17I047700 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 36.5 +381.7 381696 9.3 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 CBX5 E2F8 ZNF263 MCM3 MRPL45P2 TBKBP1 SP2 EFCAB13 ENSG00000253347 ENSG00000266601 RPS7P11 ENSG00000264701 KPNB1 LRRC37A17P
GH17I047098 Promoter/Enhancer 1.5 Ensembl ENCODE 33.6 -223.5 -223451 2.5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B POLR2B ZNF143 LOC101927060 KANSL1 ARL17A ARL17B MRPL45P2 SP2 EFCAB13 ENSG00000264701 ENSG00000266601 CDC27
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB13 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EFCAB13 Gene

Genomic Locations for EFCAB13 Gene
chr17:47,323,290-47,441,312
(GRCh38/hg38)
Size:
118,023 bases
Orientation:
Plus strand
chr17:45,400,656-45,518,678
(GRCh37/hg19)

Genomic View for EFCAB13 Gene

Genes around EFCAB13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for EFCAB13 Gene

No Post-translational modifications

Other Protein References for EFCAB13 Gene

No data available for DME Specific Peptides for EFCAB13 Gene

Domains & Families for EFCAB13 Gene

Gene Families for EFCAB13 Gene

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

Protein Domains for EFCAB13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCAB13 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for EFCAB13 Gene

Phenotypes From GWAS Catalog for EFCAB13 Gene

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

miRNA for EFCAB13 Gene

miRTarBase miRNAs that target EFCAB13

Inhibitory RNA 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 EFCAB13 Gene

Localization for EFCAB13 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 EFCAB13 gene
Compartment Confidence
nucleus 3
cytosol 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB13 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for EFCAB13 Gene

Drugs & Compounds for EFCAB13 Gene

No Compound Related Data Available

Transcripts for EFCAB13 Gene

Unigene Clusters for EFCAB13 Gene

EF-hand calcium binding domain 13:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB13 Gene

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

This gene is overexpressed in Testis (x4.5) and Thyroid (x4.2).

Protein differential expression in normal tissues from HIPED for EFCAB13 Gene

This gene is overexpressed in Gallbladder (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFCAB13 Gene



Protein tissue co-expression partners for EFCAB13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFCAB13 Gene:

EFCAB13

SOURCE GeneReport for Unigene cluster for EFCAB13 Gene:

Hs.463303
genes like me logo Genes that share expression patterns with EFCAB13: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia EFCAB13 33 34
  • 82.61 (n)
cow
(Bos Taurus)
Mammalia EFCAB13 34
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm11639 34
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB13 34
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB13 34
  • 20 (a)
OneToOne
Species where no ortholog for EFCAB13 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)
  • 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

(1) 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 Variation AA Info Type
VAR_035465 A breast cancer sample p.Gln286His
rs1000047742 -- 47,414,186(+) C/G intron_variant
rs1000111537 -- 47,392,673(+) G/C intron_variant
rs1000142051 -- 47,382,044(+) T/G intron_variant
rs1000145254 -- 47,355,484(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB13 Gene

Variant ID Type Subtype PubMed ID
dgv3261n100 CNV loss 25217958
dgv578e214 CNV loss 21293372
esv1424224 CNV insertion 17803354
esv2762621 CNV loss 21179565
esv3582792 CNV loss 25503493
esv3582794 CNV loss 25503493
esv3640701 CNV loss 21293372
esv3893025 CNV loss 25118596
nsv1146669 OTHER inversion 26484159
nsv457821 CNV loss 19166990
nsv469573 CNV gain 16826518
nsv470590 CNV loss 18288195
nsv471701 CNV gain 15918152
nsv472844 CNV novel sequence insertion 20440878
nsv477890 CNV novel sequence insertion 20440878
nsv516872 CNV gain+loss 19592680
nsv525267 CNV gain 19592680
nsv575462 CNV loss 21841781
nsv833468 CNV gain 17160897
nsv953918 CNV duplication 24416366
nsv960118 CNV duplication 23825009

Variation tolerance for EFCAB13 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.18; 87.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB13 Gene

Human Gene Mutation Database (HGMD)
EFCAB13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB13 Gene

Disorders for EFCAB13 Gene

Additional Disease Information for EFCAB13

No disorders were found for EFCAB13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) Willer CJ … Global Lipids Genetics Consortium (Nature genetics 2013) 3 58
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 58
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58

Products for EFCAB13 Gene

Sources for EFCAB13 Gene

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