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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. 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB14 Gene

Genomics for EFCAB14 Gene

GeneHancer (GH) Regulatory Elements for EFCAB14 Gene

Promoters and enhancers for EFCAB14 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
GH01I046717 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 574.3 +0.3 279 3.3 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 EFCAB14 PIR52630 LRRC41 EFCAB14-AS1 NSUN4 TEX38 LINC01389 CYP4B1 MOB3C NENFP1
GH01I046667 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 35.5 +50.6 50593 2.3 HDGF ARNT SIN3A ZNF2 ZNF48 YY1 ZNF207 ZNF143 ATF7 SP3 TEX38 ATPAF1 EFCAB14 NENFP1
GH01I046675 Enhancer 0.9 ENCODE dbSUPER 36 +42.6 42589 2.3 SOX13 IRF2 LEF1 ETV1 CEBPG IRF9 FOSL1 ZNF766 ATF7 SOX6 EFCAB14 MKNK1 MOB3C EFCAB14-AS1 LOC105378698
GH01I046299 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +416.3 416286 5.6 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D ZNF610 LRRC41 GC01P046304 GC01P046305 UQCRH GPBP1L1 LURAP1 TOE1 RPL7AP16 EFCAB14-AS1 NASP
GH01I046603 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 +114.7 114694 2.7 HDGF ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 ZNF143 SP3 MKNK1 GC01P046604 EFCAB14 TEX38 ATPAF1 EFCAB14-AS1 KNCN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB14 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EFCAB14 Gene

Genomic Locations for EFCAB14 Gene
chr1:46,675,159-46,719,064
(GRCh38/hg38)
Size:
43,906 bases
Orientation:
Minus strand
chr1:47,124,366-47,184,824
(GRCh37/hg19)

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 posLast=301301 and Ser412
  • 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

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:

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

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 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

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

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

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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia EFCAB14 33 34
  • 90.08 (n)
cow
(Bos Taurus)
Mammalia EFCAB14 33 34
  • 89.14 (n)
rat
(Rattus norvegicus)
Mammalia Efcab14 33
  • 85.95 (n)
mouse
(Mus musculus)
Mammalia Efcab14 33 16 34
  • 85.58 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB14 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB14 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0494 33 34
  • 65.21 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB14 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab14 33
  • 61.49 (n)
Str.5946 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22643 33
zebrafish
(Danio rerio)
Actinopterygii zgc:77197 33
  • 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 Variation AA Info Type
rs1000006868 -- 46,712,561(-) T/C intron_variant
rs1000033855 -- 46,720,359(-) C/T upstream_transcript_variant
rs1000113893 -- 46,713,240(-) A/G intron_variant
rs1000267119 -- 46,676,706(-) G/C 3_prime_UTR_variant
rs1000317861 -- 46,720,196(-) A/G upstream_transcript_variant

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

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 58
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J … Colwill K (Science signaling 2015) 3 58

Products for EFCAB14 Gene

Sources for EFCAB14 Gene

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