Aliases for EFCAB13 Gene

Aliases for EFCAB13 Gene

  • EF-Hand Calcium Binding Domain 13 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 13 3 4
  • C17orf57 3 4
  • EF-Hand Domain-Containing Protein C17orf57 3
  • Chromosome 17 Open Reading Frame 57 2
  • FLJ40342 2
  • EFCAB13 5

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.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFCAB13 Gene

Genomics for EFCAB13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFCAB13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFCAB13

Genomic Locations for EFCAB13 Gene

Latest Assembly
118,023 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
117,358 bases
Plus strand

(GRCh37/hg19 by Ensembl)
118,023 bases
Plus strand

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

    Protein attributes for EFCAB13 Gene

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

    Alternative splice isoforms for EFCAB13 Gene


neXtProt entry for EFCAB13 Gene

Post-translational modifications for EFCAB13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB13 Gene

Domains & Families for EFCAB13 Gene

Gene Families for EFCAB13 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB13 Gene


Suggested Antigen Peptide Sequences for EFCAB13 Gene

GenScript: Design optimal peptide antigens:
  • Integrin beta (B4DTY9_HUMAN)
  • EF-hand domain-containing protein C17orf57 (CQ057_HUMAN)
  • cDNA FLJ40342 fis, clone TESTI2032768 (Q8N7U2_HUMAN)
genes like me logo Genes that share domains with EFCAB13: view

No data available for Graphical View of Domain Structure and 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 RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB13

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

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
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • 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

PathCards logo

SuperPathways for EFCAB13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFCAB13 Gene


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

mRNA/cDNA for EFCAB13 Gene

6 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB13

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

No ASD Table

Relevant External Links for EFCAB13 Gene

GeneLoc Exon Structure for

Expression for EFCAB13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for EFCAB13 Gene

Protein tissue co-expression partners for EFCAB13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFCAB13

SOURCE GeneReport for Unigene cluster for EFCAB13 Gene:

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

Primer products for research

No data available for 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
(Pan troglodytes)
Mammalia EFCAB13 29 30
  • 99.11 (n)
(Canis familiaris)
Mammalia EFCAB13 29 30
  • 82.61 (n)
(Bos Taurus)
Mammalia EFCAB13 30
  • 65 (a)
(Mus musculus)
Mammalia Gm11639 30
  • 39 (a)
(Ornithorhynchus anatinus)
Mammalia EFCAB13 30
  • 31 (a)
(Anolis carolinensis)
Reptilia EFCAB13 30
  • 20 (a)
Species where no ortholog for EFCAB13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for EFCAB13 (if available)
Gene Tree for EFCAB13 (if available)
Evolutionary constrained regions (ECRs) for EFCAB13: view image
Alliance of Genome Resources:
Additional Orthologs for EFCAB13

Paralogs for EFCAB13 Gene

(1) SIMAP similar genes for EFCAB13 Gene using alignment to 5 proteins:

  • E5RI18_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFCAB13 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
VAR_035465 A breast cancer sample p.Gln286His
rs17855599 -- p.Met617Val
rs4968318 -- p.Val312Ile
rs55853213 -- p.Ile279Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EFCAB13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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
  2. The mutational constraint spectrum quantified from variation in 141,456 humans. (PMID: 32461654) Karczewski KJ … MacArthur DG (Nature 2020) 3
  3. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. (PMID: 32487729) Rausell A … Abel L (Proceedings of the National Academy of Sciences of the United States of America 2020) 3
  4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  5. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. (PMID: 28406212) Saleheen D … Kathiresan S (Nature 2017) 3

Products for EFCAB13 Gene

Sources for EFCAB13 Gene