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Aliases for EFCAB6 Gene

Aliases for EFCAB6 Gene

  • EF-Hand Calcium Binding Domain 6 2 3 5
  • CAP-Binding Protein Complex-Interacting Protein 1 3 4
  • DJ-1-Binding Protein 3 4
  • DJBP 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 6 3
  • DJ185D5.1 3
  • HSCBCIP1 3
  • KIAA1672 4

External Ids for EFCAB6 Gene

Previous GeneCards Identifiers for EFCAB6 Gene

  • GC22M042255
  • GC22M043924
  • GC22M026879

Summaries for EFCAB6 Gene

Entrez Gene Summary for EFCAB6 Gene

  • This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for EFCAB6 Gene

EFCAB6 (EF-Hand Calcium Binding Domain 6) is a Protein Coding gene. Among its related pathways are Androgen receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for EFCAB6 Gene

  • Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.

Gene Wiki entry for EFCAB6 Gene

Additional gene information for EFCAB6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB6 Gene

Genomics for EFCAB6 Gene

GeneHancer (GH) Regulatory Elements for EFCAB6 Gene

Promoters and enhancers for EFCAB6 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
GH22I043811 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 559.4 -0.1 -60 2 PKNOX1 SIN3A GLI4 ZNF2 ETS1 GLIS2 ELK1 ZNF207 ZNF143 FOS EFCAB6 ENSG00000261251 PNPLA5 SULT4A1
GH22I043867 Enhancer 0.8 ENCODE 19.2 -55.7 -55679 0.2 ELF3 ARID4B SIN3A DNMT3B ZSCAN9 RARA SLC30A9 ZNF766 ZNF143 RCOR1 EFCAB6 PNPLA5 PNPLA3 RPL35AP36 SAMM50 SHISAL1 SULT4A1
GH22I043897 Enhancer 0.5 ENCODE 20.6 -85.7 -85679 0.8 ZFHX2 JUND ZNF398 FOS EGR2 EFCAB6 PNPLA3 SULT4A1 MPPED1 PNPLA5
GH22I043825 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.2 -15.9 -15891 6.1 CTCF KLF1 EBF1 ZIC2 RAD21 ZFHX2 POLR2A SCRT2 SMC3 HNF4A EFCAB6 SULT4A1 GC22P043826 PIR35779 LOC105373057
GH22I043862 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 5.9 -50.2 -50198 0.3 PKNOX1 ATF1 L3MBTL2 ZBTB21 ARNT YY2 BHLHE40 MAX ATF2 ZNF335 SULT4A1 EFCAB6 PNPLA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB6 gene promoter:

Genomic Locations for EFCAB6 Gene

Genomic Locations for EFCAB6 Gene
chr22:43,528,561-43,812,337
(GRCh38/hg38)
Size:
283,777 bases
Orientation:
Minus strand
chr22:43,924,624-44,208,217
(GRCh37/hg19)

Genomic View for EFCAB6 Gene

Genes around EFCAB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB6 Gene

Proteins for EFCAB6 Gene

  • Protein details for EFCAB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5THR3-EFCB6_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 6
    Protein Accession:
    Q5THR3
    Secondary Accessions:
    • A8K8P6
    • A8K8Y3
    • B0QYI4
    • B0QYI6
    • Q5U5T6
    • Q9BY88
    • Q9H5C4
    • Q9NSF5

    Protein attributes for EFCAB6 Gene

    Size:
    1501 amino acids
    Molecular mass:
    172930 Da
    Quaternary structure:
    • Binds PARK7. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.

    Three dimensional structures from OCA and Proteopedia for EFCAB6 Gene

    Alternative splice isoforms for EFCAB6 Gene

neXtProt entry for EFCAB6 Gene

Post-translational modifications for EFCAB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB6 Gene

Domains & Families for EFCAB6 Gene

Gene Families for EFCAB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB6 Gene

Suggested Antigen Peptide Sequences for EFCAB6 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB6: view

No data available for UniProtKB/Swiss-Prot for EFCAB6 Gene

Function for EFCAB6 Gene

Molecular function for EFCAB6 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.

Phenotypes From GWAS Catalog for EFCAB6 Gene

Gene Ontology (GO) - Molecular Function for EFCAB6 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 EFCAB6: view

Phenotypes for EFCAB6 Gene

GenomeRNAi human phenotypes for EFCAB6:
genes like me logo Genes that share phenotypes with EFCAB6: view

Animal Model Products

miRNA for EFCAB6 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFCAB6 Gene

Localization for EFCAB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFCAB6 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 EFCAB6 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EFCAB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with EFCAB6: view

Pathways & Interactions for EFCAB6 Gene

genes like me logo Genes that share pathways with EFCAB6: view

Pathways by source for EFCAB6 Gene

1 BioSystems pathway for EFCAB6 Gene

Gene Ontology (GO) - Biological Process for EFCAB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with EFCAB6: view

No data available for SIGNOR curated interactions for EFCAB6 Gene

Drugs & Compounds for EFCAB6 Gene

No Compound Related Data Available

Transcripts for EFCAB6 Gene

Unigene Clusters for EFCAB6 Gene

EF-hand calcium binding domain 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: -
SP6: -
SP7:
SP8:
SP9:

ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:

Relevant External Links for EFCAB6 Gene

GeneLoc Exon Structure for
EFCAB6
ECgene alternative splicing isoforms for
EFCAB6

Expression for EFCAB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB6 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB6 Gene

This gene is overexpressed in Testis (x20.0).

Protein differential expression in normal tissues from HIPED for EFCAB6 Gene

This gene is overexpressed in Lung (29.1), Heart (17.3), and Liver, secretome (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFCAB6 Gene



Protein tissue co-expression partners for EFCAB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB6 Gene:

EFCAB6

SOURCE GeneReport for Unigene cluster for EFCAB6 Gene:

Hs.658996

mRNA Expression by UniProt/SwissProt for EFCAB6 Gene:

Q5THR3-EFCB6_HUMAN
Tissue specificity: Specifically expressed in the testis.

Evidence on tissue expression from TISSUES for EFCAB6 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with EFCAB6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB6 Gene

Orthologs for EFCAB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB6 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia EFCAB6 33 34
  • 81.96 (n)
cow
(Bos Taurus)
Mammalia EFCAB6 33 34
  • 80.88 (n)
rat
(Rattus norvegicus)
Mammalia Efcab6 33
  • 72.29 (n)
mouse
(Mus musculus)
Mammalia Efcab6 33 16 34
  • 71.6 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB6 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB6 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB6 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB6 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab6 33
  • 51.24 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32637 33
zebrafish
(Danio rerio)
Actinopterygii im:7142172 33
  • 44.37 (n)
EFCAB6 34
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToOne
Species where no ortholog for EFCAB6 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 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 EFCAB6 Gene

ENSEMBL:
Gene Tree for EFCAB6 (if available)
TreeFam:
Gene Tree for EFCAB6 (if available)

Paralogs for EFCAB6 Gene

No data available for Paralogs for EFCAB6 Gene

Variants for EFCAB6 Gene

Sequence variations from dbSNP and Humsavar for EFCAB6 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs193920984 uncertain-significance, Malignant tumor of prostate 43,772,929(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000015738 -- 43,628,562(-) C/T intron_variant
rs1000023370 -- 43,812,779(-) C/T upstream_transcript_variant
rs1000030246 -- 43,728,717(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000041757 -- 43,672,916(-) AAAA/AAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB6 Gene

Variant ID Type Subtype PubMed ID
dgv1324e212 CNV loss 25503493
dgv2620e59 CNV duplication 20981092
dgv845e214 CNV loss 21293372
esv1623154 CNV deletion 17803354
esv2539629 CNV insertion 19546169
esv2658284 CNV deletion 23128226
esv2662014 CNV deletion 23128226
esv2668106 CNV deletion 23128226
esv2672297 CNV deletion 23128226
esv2673184 CNV deletion 23128226
esv2724319 CNV deletion 23290073
esv2724320 CNV deletion 23290073
esv2724321 CNV deletion 23290073
esv2724322 CNV deletion 23290073
esv2724323 CNV deletion 23290073
esv2724324 CNV deletion 23290073
esv3236305 CNV deletion 24192839
esv3568427 CNV loss 25503493
esv3568430 CNV loss 25503493
esv3647870 CNV loss 21293372
esv3647871 CNV loss 21293372
esv3647872 CNV loss 21293372
esv3647873 CNV loss 21293372
esv3647874 CNV loss 21293372
esv3647877 CNV gain 21293372
esv3647878 CNV loss 21293372
nsv1058659 CNV loss 25217958
nsv1060958 CNV gain+loss 25217958
nsv1065594 CNV loss 25217958
nsv1077940 CNV duplication 25765185
nsv1078514 CNV duplication 25765185
nsv1124865 CNV duplication 24896259
nsv1128864 CNV duplication 24896259
nsv1136685 CNV deletion 24896259
nsv1139783 CNV duplication 24896259
nsv1144027 CNV deletion 24896259
nsv1149709 CNV duplication 26484159
nsv191450 CNV deletion 16902084
nsv3646 CNV deletion 18451855
nsv459892 CNV gain 19166990
nsv459893 CNV gain 19166990
nsv471205 CNV gain 18288195
nsv473935 CNV novel sequence insertion 20440878
nsv473998 CNV novel sequence insertion 20440878
nsv476383 CNV novel sequence insertion 20440878
nsv589098 CNV gain 21841781
nsv834217 CNV gain 17160897
nsv834218 CNV loss 17160897
nsv955171 CNV deletion 24416366
nsv962803 CNV duplication 23825009
nsv964638 CNV duplication 23825009

Variation tolerance for EFCAB6 Gene

Residual Variation Intolerance Score: 94.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.77; 86.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB6 Gene

Disorders for EFCAB6 Gene

Additional Disease Information for EFCAB6

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

No disorders were found for EFCAB6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB6 Gene

Publications for EFCAB6 Gene

  1. DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex. (PMID: 12612053) Niki T … Ariga H (Molecular cancer research : MCR 2003) 2 3 4 58
  2. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 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 EFCAB6 Gene

Sources for EFCAB6 Gene

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