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Aliases for EFCAB2 Gene

Aliases for EFCAB2 Gene

  • EF-Hand Calcium Binding Domain 2 2 3
  • 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

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 CETN2.

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

Genomics for EFCAB2 Gene

Genomic Location for EFCAB2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFCAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB2 Gene

Regulatory Elements 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

Proteomics data for EFCAB2 Gene at MOPED

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 for EFCAB2 Gene

Gene Families for EFCAB2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for EFCAB2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

EFCB2_HUMAN
Domain:
  • Contains 2 EF-hand domains.:
    • Q5VUJ9
genes like me logo Genes that share domains with EFCAB2: view

Function 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EFCAB2 Gene

Localization for EFCAB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFCAB2 Gene COMPARTMENTS Subcellular localization image for EFCAB2 gene
Compartment Confidence
cytosol 3
nucleus 2
peroxisome 2
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for EFCAB2 Gene

Pathways for EFCAB2 Gene

SuperPathways for EFCAB2 Gene

No Data Available

Interacting Proteins for EFCAB2 Gene

Gene Ontology (GO) - Biological Process for EFCAB2 Gene

None

No data available for Pathways by source for EFCAB2 Gene

Transcripts for EFCAB2 Gene

Unigene Clusters for EFCAB2 Gene

EF-hand calcium binding domain 2:
Representative Sequences:

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 for EFCAB2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFCAB2 Gene

SOURCE GeneReport for Unigene cluster for EFCAB2 Gene Hs.134857

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

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 36
  • 99.38 (n)
  • 100 (a)
EFCAB2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFCAB2 36
  • 91.15 (n)
  • 91.98 (a)
EFCAB2 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB2 36
  • 87.88 (n)
  • 87.01 (a)
EFCAB2 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efcab2 36
  • 86.42 (n)
  • 85.8 (a)
Efcab2 16
Efcab2 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCAB2 37
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB2 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efcab2 36
  • 87.25 (n)
  • 88.97 (a)
chicken
(Gallus gallus)
Aves EFCAB2 36
  • 74.49 (n)
  • 68.52 (a)
EFCAB2 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB2 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab2 36
  • 73.91 (n)
  • 74.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1428 36
zebrafish
(Danio rerio)
Actinopterygii efcab2 36
  • 66.05 (n)
  • 67.08 (a)
efcab2 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006174 36
  • 50.91 (n)
  • 44.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11041 37
  • 44 (a)
OneToMany
CG13526 37
  • 23 (a)
OneToMany
CG9406 37
  • 32 (a)
OneToMany
Eip63F-1 37
  • 23 (a)
OneToMany
TpnC25D 37
  • 21 (a)
OneToMany
TpnC4 37
  • 20 (a)
OneToMany
TpnC41C 37
  • 23 (a)
OneToMany
TpnC47D 37
  • 21 (a)
OneToMany
TpnC73F 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-5 37
  • 22 (a)
OneToMany
E02A10.3 37
  • 16 (a)
OneToMany
tnc-2 37
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC31 37
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13955 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11218 37
  • 65 (a)
OneToOne
Species with no ortholog for EFCAB2:
  • 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

Selected 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 MAF
rs2945 -- 245,091,720(-) ATGTT(A/G)TGCTT intron-variant, utr-variant-3-prime
rs2946 -- 245,091,709(-) TCTGG(G/T)GGCCT intron-variant, utr-variant-3-prime
rs471641 -- 245,049,779(-) CTCAG(C/T)CAAGC intron-variant
rs471747 -- 245,059,205(-) AAAGA(A/T)GAAAG intron-variant
rs479597 -- 244,999,383(-) AGGGA(A/G)ACAGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv22057 CNV Loss 19812545
nsv873395 CNV Gain 21882294
nsv5188 CNV Insertion 18451855
esv2726729 CNV Deletion 23290073
esv2726740 CNV Deletion 23290073
nsv827664 CNV Loss 20364138
esv2669322 CNV Deletion 23128226
esv269284 CNV Insertion 20981092
esv273990 CNV Insertion 20981092
esv2663617 CNV Deletion 23128226
esv2673217 CNV Deletion 23128226
esv2726751 CNV Deletion 23290073
esv24561 CNV Loss 19812545
esv2726762 CNV Deletion 23290073

Relevant External Links for EFCAB2 Gene

HapMap Linkage Disequilibrium report
EFCAB2

Disorders for EFCAB2 Gene

Relevant External Links for EFCAB2

Genetic Association Database (GAD)
EFCAB2
Human Genome Epidemiology (HuGE) Navigator
EFCAB2
genes like me logo Genes that share disorders with EFCAB2: view

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

Publications for EFCAB2 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. 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 M.E. (Mol. Biol. Cell 2013) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. 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

Products for EFCAB2 Gene

Sources for EFCAB2 Gene

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