Aliases for EFCAB14 Gene

Aliases for EFCAB14 Gene

  • EF-Hand Calcium Binding Domain 14 2 3 5
  • KIAA0494 2 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 14 3 4
  • EFCAB14 5

External Ids for EFCAB14 Gene

Previous HGNC Symbols for EFCAB14 Gene

  • KIAA0494

Previous GeneCards Identifiers for EFCAB14 Gene

  • GC01M047125

Summaries for EFCAB14 Gene

GeneCards Summary for EFCAB14 Gene

EFCAB14 (EF-Hand Calcium Binding Domain 14) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EFCAB14 Gene

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 EFCAB14 Gene

Genomics for EFCAB14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFCAB14 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 EFCAB14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFCAB14

Genomic Locations for EFCAB14 Gene

Genomic Locations for EFCAB14 Gene
chr1:46,674,659-46,719,146
(GRCh38/hg38)
Size:
44,488 bases
Orientation:
Minus strand
chr1:47,124,366-47,184,824
(GRCh37/hg19)
Size:
60,459 bases
Orientation:
Minus strand

Genomic View for EFCAB14 Gene

Genes around EFCAB14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB14 Gene

Proteins for EFCAB14 Gene

  • Protein details for EFCAB14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75071-EFC14_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 14
    Protein Accession:
    O75071
    Secondary Accessions:
    • D3DQ23
    • Q5SXB8

    Protein attributes for EFCAB14 Gene

    Size:
    495 amino acids
    Molecular mass:
    55031 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA32328.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for EFCAB14 Gene

Post-translational modifications for EFCAB14 Gene

  • Glycosylation at Asn296, Asn301, Asn347, and Ser412
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • EFC14_HUMAN (1198)

No data available for DME Specific Peptides for EFCAB14 Gene

Domains & Families for EFCAB14 Gene

Gene Families for EFCAB14 Gene

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

Protein Domains for EFCAB14 Gene

Suggested Antigen Peptide Sequences for EFCAB14 Gene

GenScript: Design optimal peptide antigens:
  • EF-hand domain-containing protein KIAA0494 (K0494_HUMAN)
genes like me logo Genes that share domains with EFCAB14: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFCAB14 Gene

Function for EFCAB14 Gene

Phenotypes From GWAS Catalog for EFCAB14 Gene

Gene Ontology (GO) - Molecular Function for EFCAB14 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 EFCAB14: view
genes like me logo Genes that share phenotypes with EFCAB14: view

Animal Models for EFCAB14 Gene

MGI Knock Outs for EFCAB14:

Animal Model Products

CRISPR Products

miRNA for EFCAB14 Gene

miRTarBase miRNAs that target EFCAB14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB14

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFCAB14 Gene

Localization for EFCAB14 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 EFCAB14 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 1
plasma membrane 0
extracellular 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB14 Gene

Pathways & Interactions for EFCAB14 Gene

PathCards logo

SuperPathways for EFCAB14 Gene

No Data Available

Interacting Proteins for EFCAB14 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000361001 O75071-EFC14_HUMAN for EFCAB14 Gene via STRING IID

Gene Ontology (GO) - Biological Process for EFCAB14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB14 Gene

Drugs & Compounds for EFCAB14 Gene

No Compound Related Data Available

Transcripts for EFCAB14 Gene

mRNA/cDNA for EFCAB14 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB14

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB14 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2: -

Relevant External Links for EFCAB14 Gene

GeneLoc Exon Structure for
EFCAB14

Expression for EFCAB14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB14 Gene

Protein differential expression in normal tissues from HIPED for EFCAB14 Gene

This gene is overexpressed in Adipocyte (58.1) and Testis (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EFCAB14 Gene



Protein tissue co-expression partners for EFCAB14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFCAB14

SOURCE GeneReport for Unigene cluster for EFCAB14 Gene:

Hs.707688

Evidence on tissue expression from TISSUES for EFCAB14 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with EFCAB14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB14 Gene

Orthologs for EFCAB14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EFCAB14 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EFCAB14 30 31
  • 90.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFCAB14 30 31
  • 89.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Efcab14 30
  • 85.95 (n)
Mouse
(Mus musculus)
Mammalia Efcab14 30 17 31
  • 85.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EFCAB14 31
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB14 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0494 30 31
  • 65.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EFCAB14 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia efcab14 30
  • 61.49 (n)
Str.5946 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22643 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:77197 30
  • 58.21 (n)
Species where no ortholog for EFCAB14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EFCAB14 Gene

ENSEMBL:
Gene Tree for EFCAB14 (if available)
TreeFam:
Gene Tree for EFCAB14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB14: view image

Paralogs for EFCAB14 Gene

Pseudogenes.org Pseudogenes for EFCAB14 Gene

genes like me logo Genes that share paralogs with EFCAB14: view

No data available for Paralogs for EFCAB14 Gene

Variants for EFCAB14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFCAB14 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs6665021 - p.Leu337Pro
VAR_074176 - p.Pro239Ser

Additional dbSNP identifiers (rs#s) for EFCAB14 Gene

Variation tolerance for EFCAB14 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EFCAB14 Gene

Disorders for EFCAB14 Gene

No disorders were found for EFCAB14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB14 Gene

Publications for EFCAB14 Gene

  1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  2. 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
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3
  5. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. (PMID: 25787250) Cromer MK … Lifton RP (Proceedings of the National Academy of Sciences of the United States of America 2015) 4

Products for EFCAB14 Gene

  • Signalway Proteins for EFCAB14

Sources for EFCAB14 Gene