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Aliases for EFCAB2 Gene

Aliases for EFCAB2 Gene

  • EF-Hand Calcium Binding Domain 2 2 3 5
  • Dynein Regulatory Complex Subunit 8 2 3
  • EF-Hand Calcium-Binding Domain-Containing Protein 2 3
  • CFAP200 3
  • DRC8 3

External Ids for EFCAB2 Gene

Previous GeneCards Identifiers for EFCAB2 Gene

  • GC01P241460
  • GC01P243199
  • GC01P245133
  • GC01P215516

Summaries for EFCAB2 Gene

Entrez Gene Summary for EFCAB2 Gene

  • The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

GeneCards Summary for EFCAB2 Gene

EFCAB2 (EF-Hand Calcium Binding Domain 2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CETN1.

Additional gene information for EFCAB2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB2 Gene

Genomics for EFCAB2 Gene

Regulatory Elements for EFCAB2 Gene

Enhancers for EFCAB2 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
GH01H244962 1.4 Ensembl ENCODE dbSUPER 69.4 -5.4 -5416 3 HDAC1 PKNOX1 ARNT TCF12 ZSCAN5C FOS ATF7 SMARCA5 ZNF362 ZNF174 EFCAB2 LOC101928068 HNRNPU DESI2 GC01P244964
GH01H244967 1.4 ENCODE dbSUPER 67.2 +0.6 561 4 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MEF2D LOC101928068 EFCAB2 HNRNPU COX20 ADSS ENSG00000238224 ENSG00000240963 RN7SKP55 DESI2 ENSG00000237759
GH01H245051 1.6 FANTOM5 Ensembl ENCODE 26.7 +83.6 83553 4 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ATF7 CAVIN1 LOC101928068 EFCAB2 RNU6-1089P RNU6-947P RNU6-999P PIR32194
GH01H245045 1.2 Ensembl ENCODE 26 +76.3 76347 1 TBP PKNOX1 FOXA2 ARID4B RAD21 YY1 CREM MIXL1 THAP11 CEBPB LOC101928068 EFCAB2 RNU6-1089P RNU6-947P RNU6-999P PIR32194
GH01H245106 1 ENCODE 18.1 +137.7 137676 1 FOXA2 ATF1 ZNF133 ZNF2 YY1 ZNF416 ZNF548 ATF7 ZNF202 SP3 HNRNPU EFCAB2 RNU1-132P DESI2 PIR32194 ENSG00000223353
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCAB2 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022966 995 3001 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MEF2D

Genomic Location for EFCAB2 Gene

Chromosome:
1
Start:
244,969,705 bp from pter
End:
245,127,164 bp from pter
Size:
157,460 bases
Orientation:
Plus strand

Genomic View for EFCAB2 Gene

Genes around EFCAB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB2 Gene

Proteins for EFCAB2 Gene

  • Protein details for EFCAB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUJ9-EFCB2_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 2
    Protein Accession:
    Q5VUJ9
    Secondary Accessions:
    • B4DZE9
    • Q59G23
    • Q9BS36

    Protein attributes for EFCAB2 Gene

    Size:
    269 amino acids
    Molecular mass:
    29714 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EFCAB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCAB2 Gene

Post-translational modifications for EFCAB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB2 Gene

Domains & Families for EFCAB2 Gene

Protein Domains for EFCAB2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB2: view

No data available for UniProtKB/Swiss-Prot for EFCAB2 Gene

Function for EFCAB2 Gene

Phenotypes From GWAS Catalog for EFCAB2 Gene

Gene Ontology (GO) - Molecular Function for EFCAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB2: view
genes like me logo Genes that share phenotypes with EFCAB2: view

Animal Model Products

CRISPR Products

miRNA for EFCAB2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EFCAB2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFCAB2 Gene

Localization for EFCAB2 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 EFCAB2 gene
Compartment Confidence
cytosol 4
plasma membrane 2
mitochondrion 2
peroxisome 2
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB2 Gene

Pathways & Interactions for EFCAB2 Gene

SuperPathways for EFCAB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFCAB2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB2 Gene

Drugs & Compounds for EFCAB2 Gene

No Compound Related Data Available

Transcripts for EFCAB2 Gene

Unigene Clusters for EFCAB2 Gene

EF-hand calcium binding domain 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EFCAB2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB2 Gene

No ASD Table

Relevant External Links for EFCAB2 Gene

GeneLoc Exon Structure for
EFCAB2
ECgene alternative splicing isoforms for
EFCAB2

Expression for EFCAB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB2 Gene

Protein differential expression in normal tissues from HIPED for EFCAB2 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EFCAB2 Gene



Protein tissue co-expression partners for EFCAB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFCAB2 Gene:

EFCAB2

SOURCE GeneReport for Unigene cluster for EFCAB2 Gene:

Hs.134857

Evidence on tissue expression from TISSUES for EFCAB2 Gene

  • Nervous system(4.4)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with EFCAB2: 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 EFCAB2 Gene

Orthologs for EFCAB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EFCAB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB2 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia EFCAB2 33 34
  • 91.15 (n)
dog
(Canis familiaris)
Mammalia EFCAB2 33 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Efcab2 33
  • 87.25 (n)
mouse
(Mus musculus)
Mammalia Efcab2 33 16 34
  • 86.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCAB2 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB2 33 34
  • 74.49 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab2 33
  • 73.91 (n)
zebrafish
(Danio rerio)
Actinopterygii efcab2 33 34
  • 66.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1428 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006174 33
  • 50.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11041 34
  • 44 (a)
OneToMany
CG9406 34
  • 32 (a)
OneToMany
CG13526 34
  • 23 (a)
OneToMany
Eip63F-1 34
  • 23 (a)
OneToMany
TpnC41C 34
  • 23 (a)
OneToMany
TpnC25D 34
  • 21 (a)
OneToMany
TpnC47D 34
  • 21 (a)
OneToMany
TpnC73F 34
  • 21 (a)
OneToMany
TpnC4 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-5 34
  • 22 (a)
OneToMany
tnc-2 34
  • 21 (a)
OneToMany
E02A10.3 34
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC31 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11218 34
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13955 33
Species where no ortholog for EFCAB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • 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)

Evolution for EFCAB2 Gene

ENSEMBL:
Gene Tree for EFCAB2 (if available)
TreeFam:
Gene Tree for EFCAB2 (if available)

Paralogs for EFCAB2 Gene

Paralogs for EFCAB2 Gene

(12) SIMAP similar genes for EFCAB2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EFCAB2: view

Variants for EFCAB2 Gene

Sequence variations from dbSNP and Humsavar for EFCAB2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000020079 -- 245,006,807(+) CACAG(C/G)CCTGC intron-variant
rs1000041556 -- 244,992,515(+) GGGCA(A/G)ATTAC intron-variant
rs1000055349 -- 245,077,846(+) CACAG(G/T)CAACA intron-variant
rs1000080039 -- 245,011,180(+) AATTT(A/G)TAGAT intron-variant
rs1000090824 -- 244,999,951(+) GTAGC(A/T)GGGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB2 Gene

Variant ID Type Subtype PubMed ID
dgv602n100 CNV gain 25217958
esv22057 CNV loss 19812545
esv24561 CNV loss 19812545
esv2663617 CNV deletion 23128226
esv2669322 CNV deletion 23128226
esv2673217 CNV deletion 23128226
esv2726729 CNV deletion 23290073
esv2726740 CNV deletion 23290073
esv2726751 CNV deletion 23290073
esv2726762 CNV deletion 23290073
esv3305006 CNV mobile element insertion 20981092
esv3309718 CNV mobile element insertion 20981092
esv3324980 CNV insertion 20981092
esv3442501 CNV insertion 20981092
esv3589420 CNV loss 21293372
esv3589422 CNV loss 21293372
esv3589423 CNV loss 21293372
esv3589424 CNV loss 21293372
esv3589426 CNV loss 21293372
esv3589427 CNV loss 21293372
esv3589428 CNV loss 21293372
esv3589429 CNV loss 21293372
esv3589430 CNV loss 21293372
nsv473048 CNV novel sequence insertion 20440878
nsv5188 CNV insertion 18451855
nsv549494 CNV gain 21841781
nsv827664 CNV loss 20364138

Variation tolerance for EFCAB2 Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.70; 86.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB2 Gene

Disorders for EFCAB2 Gene

Relevant External Links for EFCAB2

Genetic Association Database (GAD)
EFCAB2
Human Genome Epidemiology (HuGE) Navigator
EFCAB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB2

No disorders were found for EFCAB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB2 Gene

Publications for EFCAB2 Gene

  1. The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes. (PMID: 23427265) Bower R … Porter ME (Molecular biology of the cell 2013) 2 3 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for EFCAB2 Gene

Sources for EFCAB2 Gene

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