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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

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. GO annotations related to this gene include calcium ion binding.

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 EFCAB14 Gene

Genomics for EFCAB14 Gene

Regulatory Elements for EFCAB14 Gene

Enhancers for EFCAB14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G046675 1 ENCODE dbSUPER 36 +42.6 42589 2.3 SOX13 LEF1 IRF2 ETV1 TEAD4 ZNF175 CEBPG FOSL1 IRF9 ZNF766 EFCAB14 MOB3C MKNK1 EFCAB14-AS1 LOC105378698
GH01G046667 1 ENCODE 35.4 +50.6 50594 2.3 HDGF ATF1 ARNT CREB3L1 SIN3A ZNF2 ZNF48 YY1 ZNF143 ZNF207 EFCAB14 TEX38 NENFP1
GH01G046717 1.4 ENCODE dbSUPER 24.3 +0.3 280 3.3 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 EFCAB14 EFCAB14-AS1 NSUN4 TEX38 CYP4B1 NENFP1 ATPAF1 PIR52630 LOC105378698
GH01G046687 1.1 ENCODE dbSUPER 20.7 +29.6 29648 4.2 PKNOX1 INSM2 FEZF1 ZNF2 RAD21 ZSCAN5C SCRT2 KLF7 OVOL3 TSHZ1 EFCAB14 ATPAF1 LOC105378698 PIR52630
GH01G046519 1.6 FANTOM5 Ensembl ENCODE 11 +197.5 197457 3.6 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT SIN3A ZNF766 CBX5 FOS EFCAB14-AS1 DMBX1 IPP KNCN EFCAB14 TEX38 ATPAF1 NSUN4 MKNK1 CYP4Z1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCAB14 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006011 164 1401 HDGF MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 FOS

Genomic Location for EFCAB14 Gene

Chromosome:
1
Start:
46,675,159 bp from pter
End:
46,719,064 bp from pter
Size:
43,906 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for EFCAB14 Gene

Post-translational modifications for EFCAB14 Gene

  • Glycosylation at isoforms=301 and isoforms=412
  • Modification sites at PhosphoSitePlus

Other Protein References for EFCAB14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFCAB14 Gene

Domains & Families for EFCAB14 Gene

Gene Families for EFCAB14 Gene

Protein Domains for EFCAB14 Gene

Suggested Antigen Peptide Sequences for EFCAB14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for EFCAB14 Gene

Function 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 Model Products

CRISPR Products

miRNA for EFCAB14 Gene

miRTarBase miRNAs that target EFCAB14

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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 4
cytosol 3
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

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

Pathways & Interactions for EFCAB14 Gene

SuperPathways for EFCAB14 Gene

No Data Available

Interacting Proteins for EFCAB14 Gene

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

Unigene Clusters for EFCAB14 Gene

EF-hand calcium binding domain 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
EFCAB14

Expression for EFCAB14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for EFCAB14 Gene



Protein tissue co-expression partners for EFCAB14 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB14 Gene:

EFCAB14

SOURCE GeneReport for Unigene cluster for EFCAB14 Gene:

Hs.707688

Evidence on tissue expression from TISSUES for EFCAB14 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with EFCAB14: view

Primer Products

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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia EFCAB14 34 35
  • 90.08 (n)
cow
(Bos Taurus)
Mammalia EFCAB14 34 35
  • 89.14 (n)
rat
(Rattus norvegicus)
Mammalia Efcab14 34
  • 85.95 (n)
mouse
(Mus musculus)
Mammalia Efcab14 16 35 34
  • 85.58 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB14 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB14 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0494 35 34
  • 65.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB14 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab14 34
  • 61.49 (n)
Str.5946 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22643 34
zebrafish
(Danio rerio)
Actinopterygii zgc:77197 34
  • 58.21 (n)
Species where no ortholog for EFCAB14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Evolution for EFCAB14 Gene

ENSEMBL:
Gene Tree for EFCAB14 (if available)
TreeFam:
Gene Tree for EFCAB14 (if available)

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 from dbSNP and Humsavar for EFCAB14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000006868 -- 46,712,561(+) TTCCT(C/T)TCCTT intron-variant
rs1000033855 -- 46,720,359(+) TGGTG(C/T)GCGCT upstream-variant-2KB
rs1000113893 -- 46,713,240(+) AAGAC(A/G)TTGCA intron-variant
rs1000267119 -- 46,676,706(+) TGCCA(C/G)GCTAA intron-variant, utr-variant-3-prime
rs1000317861 -- 46,720,196(+) AAAAA(A/G)AAAAT upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for EFCAB14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB14

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 Res. 1997) 2 3 4 64
  2. 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 64
  3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. (PMID: 25787250) Cromer M.K. … Lifton R.P. (Proc. Natl. Acad. Sci. U.S.A. 2015) 4 64

Products for EFCAB14 Gene

Sources for EFCAB14 Gene

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