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Aliases for EFCAB11 Gene

Aliases for EFCAB11 Gene

  • EF-Hand Calcium Binding Domain 11 2 3 5
  • C14orf143 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 11 3
  • EF-Hand Domain-Containing Protein C14orf143 3
  • Chromosome 14 Open Reading Frame 143 2

External Ids for EFCAB11 Gene

Previous HGNC Symbols for EFCAB11 Gene

  • C14orf143

Previous GeneCards Identifiers for EFCAB11 Gene

  • GC14M090262
  • GC14M090340
  • GC14M090056
  • GC14M090067
  • GC14M090205
  • GC14M090500

Summaries for EFCAB11 Gene

GeneCards Summary for EFCAB11 Gene

EFCAB11 (EF-Hand Calcium Binding Domain 11) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB11 Gene

Genomics for EFCAB11 Gene

Regulatory Elements for EFCAB11 Gene

Enhancers for EFCAB11 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
GH14F089909 1 FANTOM5 Ensembl ENCODE 6.1 +43.1 43110 4.1 PKNOX1 ZNF2 FOS TSHZ1 PPARG RFX3 PBX2 SP7 ZNF146 TEAD3 RPL21P11 TDP1 EFCAB11 FOXN3 KCNK13 RAB42P1 ENSG00000259053
GH14F089770 0.9 Ensembl ENCODE 4.7 +183.2 183238 1.3 ZNF366 ENSG00000252655 EFCAB11 CHORDC2P PIR58103
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EFCAB11 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181156 -624 3600 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for EFCAB11 Gene

Chromosome:
14
Start:
89,794,669 bp from pter
End:
89,954,777 bp from pter
Size:
160,109 bases
Orientation:
Minus strand

Genomic View for EFCAB11 Gene

Genes around EFCAB11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB11 Gene

Proteins for EFCAB11 Gene

  • Protein details for EFCAB11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUY7-EFC11_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 11
    Protein Accession:
    Q9BUY7
    Secondary Accessions:
    • B3KT10
    • B7Z5G9
    • G3V5G1
    • Q86T09
    • Q86TV7
    • Q8NDQ1

    Protein attributes for EFCAB11 Gene

    Size:
    163 amino acids
    Molecular mass:
    19225 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD62325.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB11 Gene

neXtProt entry for EFCAB11 Gene

Post-translational modifications for EFCAB11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB11 Gene

Domains & Families for EFCAB11 Gene

Gene Families for EFCAB11 Gene

Protein Domains for EFCAB11 Gene

Suggested Antigen Peptide Sequences for EFCAB11 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUY7

UniProtKB/Swiss-Prot:

EFC11_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with EFCAB11: view

Function for EFCAB11 Gene

Gene Ontology (GO) - Molecular Function for EFCAB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB11: view
genes like me logo Genes that share phenotypes with EFCAB11: view

Animal Model Products

miRNA for EFCAB11 Gene

miRTarBase miRNAs that target EFCAB11

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFCAB11 Gene

Localization for EFCAB11 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFCAB11 Gene COMPARTMENTS Subcellular localization image for EFCAB11 gene
Compartment Confidence
cytosol 3
nucleus 3
extracellular 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB11 Gene

Pathways & Interactions for EFCAB11 Gene

SuperPathways for EFCAB11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFCAB11 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB11 Gene

Transcripts for EFCAB11 Gene

Unigene Clusters for EFCAB11 Gene

EF-hand calcium binding domain 11:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - - - -
SP2: -
SP3: - - - - - - - -
SP4: - - -
SP5:
SP6: - -
SP7:

Relevant External Links for EFCAB11 Gene

GeneLoc Exon Structure for
EFCAB11
ECgene alternative splicing isoforms for
EFCAB11

Expression for EFCAB11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFCAB11 Gene

This gene is overexpressed in Testis (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of EFCAB11 Gene:

EFCAB11

SOURCE GeneReport for Unigene cluster for EFCAB11 Gene:

Hs.123232
genes like me logo Genes that share expression patterns with EFCAB11: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for EFCAB11 Gene

Orthologs for EFCAB11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB11 34 35
  • 98.98 (n)
cow
(Bos Taurus)
Mammalia EFCAB11 34 35
  • 86.5 (n)
dog
(Canis familiaris)
Mammalia EFCAB11 34 35
  • 85.89 (n)
mouse
(Mus musculus)
Mammalia Efcab11 34 16 35
  • 80.83 (n)
rat
(Rattus norvegicus)
Mammalia Efcab11 34
  • 80.21 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB11 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB11 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB11 34 35
  • 68.32 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB11 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab11 34
  • 62.55 (n)
zebrafish
(Danio rerio)
Actinopterygii efcab11 34 35
  • 57.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1099 35
  • 43 (a)
OneToOne
Species where no ortholog for EFCAB11 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)
  • 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 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 EFCAB11 Gene

ENSEMBL:
Gene Tree for EFCAB11 (if available)
TreeFam:
Gene Tree for EFCAB11 (if available)

Paralogs for EFCAB11 Gene

(2) SIMAP similar genes for EFCAB11 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EFCAB11: view

No data available for Paralogs for EFCAB11 Gene

Variants for EFCAB11 Gene

Sequence variations from dbSNP and Humsavar for EFCAB11 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10129565 -- 89,929,463(+) ctcac(A/T)gcaac intron-variant
rs10130087 -- 89,828,839(+) tgtat(C/T)aaagg intron-variant
rs10130775 -- 89,917,264(+) tccca(G/T)cccct intron-variant
rs10130893 -- 89,846,694(+) TCCCA(A/G)GACCT intron-variant
rs10131159 -- 89,846,829(+) TTGAT(A/C)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB11 Gene

Variant ID Type Subtype PubMed ID
esv2481770 CNV deletion 19546169
esv2661275 CNV deletion 23128226
esv2749003 CNV deletion 23290073
esv3635297 CNV gain 21293372
esv3635302 CNV loss 21293372
esv3635304 CNV loss 21293372
esv7800 CNV gain 19470904
nsv1045864 CNV loss 25217958
nsv507764 OTHER sequence alteration 20534489
nsv517864 CNV loss 19592680
nsv832853 CNV gain 17160897
nsv832854 CNV gain 17160897
nsv976364 CNV duplication 23825009

Variation tolerance for EFCAB11 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB11 Gene

Disorders for EFCAB11 Gene

Relevant External Links for EFCAB11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB11

No disorders were found for EFCAB11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB11 Gene

Publications for EFCAB11 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Replication the association of 2q32.2-q32.3 and 14q32.11 with hepatocellular carcinoma. (PMID: 25665738) Chen W. … Sun L. (Gene 2015) 3 64
  3. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx J.J. … Ophoff R.A. (Mol. Psychiatry 2013) 3 64
  4. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. (PMID: 23400010) Del-Aguila J.L. … Boerwinkle E. (Pharmacogenomics J. 2013) 3 64
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64

Products for EFCAB11 Gene

Sources for EFCAB11 Gene

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