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Aliases for EFCAB2 Gene

Aliases for EFCAB2 Gene

  • EF-Hand Calcium Binding Domain 2 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 2 3 4
  • Dynein Regulatory Complex Subunit 8 2 3
  • DRC8 3 4
  • Dynein Regulatory Complex Protein 8 3
  • CFAP200 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. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CETN1.

UniProtKB/Swiss-Prot for EFCAB2 Gene

  • Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

Additional gene information for EFCAB2 Gene

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

Genomics for EFCAB2 Gene

GeneHancer (GH) Regulatory Elements for EFCAB2 Gene

Promoters and enhancers for EFCAB2 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
GH01J244967 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 717.2 +0.6 561 4.6 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LOC101928068 EFCAB2 KIF26B HNRNPU COX20 ADSS ENSG00000238224 ENSG00000240963 RN7SKP55 DESI2
GH01J244962 Enhancer 1.3 Ensembl ENCODE dbSUPER 69.4 -5.4 -5416 3.6 HDAC1 PKNOX1 ARNT TCF12 ZSCAN5C FOS ATF7 SMARCA5 ZNF174 ZNF362 GC01P244964 EFCAB2 LOC101928068 HNRNPU DESI2
GH01J245051 Enhancer 1.4 FANTOM5 Ensembl ENCODE 26.7 +83.6 83552 4.3 HDGF PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 CBX5 GATA2 E2F8 LOC101928068 EFCAB2 RNU6-1089P HNRNPU RNU6-947P RNU6-999P PIR32194
GH01J245045 Enhancer 1.1 Ensembl ENCODE 26 +76.3 76346 1.9 PKNOX1 FOXA2 ARID4B RAD21 ETS1 YY1 ZNF614 CREM THAP11 MIXL1 LOC101928068 EFCAB2 RNU6-1089P RNU6-947P RNU6-999P PIR32194
GH01J245106 Enhancer 0.9 ENCODE 18.1 +137.7 137676 1.7 ATF1 FOXA2 ZNF133 ZNF2 ETS1 YY1 ZNF416 ZNF548 ATF7 ZNF202 HNRNPU EFCAB2 RNU1-132P DESI2 PIR32194 ENSG00000223353
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB2 gene promoter:
  • POU6F1 (c2)
  • E47
  • c-Jun
  • c-Fos
  • AP-1

Genomic Locations for EFCAB2 Gene

Genomic Locations for EFCAB2 Gene
chr1:244,969,705-245,127,164
(GRCh38/hg38)
Size:
157,460 bases
Orientation:
Plus strand
chr1:245,133,007-245,290,466
(GRCh37/hg19)
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-DRC8_HUMAN
    Recommended name:
    Dynein regulatory complex protein 8
    Protein Accession:
    Q5VUJ9
    Secondary Accessions:
    • B4DZE9
    • Q59G23
    • Q9BS36

    Protein attributes for EFCAB2 Gene

    Size:
    269 amino acids
    Molecular mass:
    29714 Da
    Quaternary structure:
    • Component of the nexin-dynein regulatory complex (N-DRC).

    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

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5VUJ9

UniProtKB/Swiss-Prot:

DRC8_HUMAN :
  • Belongs to the DRC8 family.
Family:
  • Belongs to the DRC8 family.
genes like me logo Genes that share domains with EFCAB2: view

Function for EFCAB2 Gene

Molecular function for EFCAB2 Gene

UniProtKB/Swiss-Prot Function:
Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

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

miRNA for EFCAB2 Gene

Clone Products

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

Localization for EFCAB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFCAB2 Gene

Cytoplasm, cytoskeleton, flagellum axoneme.

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 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:

Clone Products

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, 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(4.5)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with EFCAB2: 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 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 34 33
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EFCAB2 34 33
  • 91.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB2 34 33
  • 87.88 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efcab2 33
  • 87.25 (n)
mouse
(Mus musculus)
Mammalia Efcab2 16 34 33
  • 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 34 33
  • 74.49 (n)
OneToOne
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 34 33
  • 66.05 (n)
OneToOne
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
TpnC41C 34
  • 23 (a)
OneToMany
Eip63F-1 34
  • 23 (a)
OneToMany
CG13526 34
  • 23 (a)
OneToMany
TpnC47D 34
  • 21 (a)
OneToMany
TpnC25D 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
Cin.13955 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB2: view image

Paralogs for EFCAB2 Gene

Paralogs for EFCAB2 Gene

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

  • EFCB2_HUMAN
  • H0Y588_HUMAN
  • H0Y6F0_HUMAN
  • H0YHT5_HUMAN
  • H7BY53_HUMAN
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 Variation AA Info Type
rs1000020079 -- 245,006,807(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000041556 -- 244,992,515(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000055349 -- 245,077,846(+) G/T intron_variant
rs1000080039 -- 245,011,180(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000090824 -- 244,999,951(+) T/A genic_upstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for EFCAB2

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

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 58
  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 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for EFCAB2 Gene

Sources for EFCAB2 Gene

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