Aliases for EFCAB6 Gene
Aliases for EFCAB6 Gene
External Ids for EFCAB6 Gene
- HGNC: 24204
- Entrez Gene: 64800
- Ensembl: ENSG00000186976
- UniProtKB: Q5THR3
Previous GeneCards Identifiers for EFCAB6 Gene
- GC22M042255
- GC22M043924
- GC22M026879
Summaries 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.
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
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 SAMM50 RPL35AP36 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 PIR35779 GC22P043826 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 |
- Top Transcription factor binding sites by QIAGEN in the EFCAB6 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 22q13.31 by Ensembl
- 22q13.2-q13.31 by Entrez Gene
- 22q13.2-q13.31 by HGNC


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
- 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.
Protein Expression for EFCAB6 Gene
Post-translational modifications for EFCAB6 Gene
Other Protein References for EFCAB6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_073622.2
- NP_942153.1
- XP_005261761.1
- XP_005261762.1
- XP_011528618.1
- XP_011528619.1
- XP_011528620.1
- XP_011528621.1
- XP_011528622.1
- XP_011528623.1
- XP_011528624.1
- XP_011528625.1
- XP_011528627.1
- XP_011528628.1
- XP_011528629.1
- XP_011528630.1
- XP_011528631.1
- XP_011528632.1
- XP_016884399.1
- XP_016884400.1
- XP_016884401.1
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Protein Products
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Assay Products
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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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EFCAB6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IBA | -- |
GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for EFCAB6 Gene
- GenomeRNAi human phenotypes for EFCAB6:
Animal Model Products
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miRNA for EFCAB6 Gene
- miRTarBase miRNAs that target EFCAB6
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Inhibitory RNA Products
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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
- Nucleus.
- Nucleoplasm (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
Pathways & Interactions for EFCAB6 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Androgen receptor signaling pathway |
Pathways by source for EFCAB6 Gene
1 BioSystems pathway for EFCAB6 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for EFCAB6 Gene
Transcripts for EFCAB6 Gene
mRNA/cDNA for EFCAB6 Gene
- (21) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (42) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EFCAB6 Gene
CRISPR Products
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-
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for EFCAB6 Gene
mRNA differential expression in normal tissues according to GTEx for EFCAB6 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFCAB6 Gene
NURSA nuclear receptor signaling pathways regulating expression of EFCAB6 Gene:
EFCAB6SOURCE GeneReport for Unigene cluster for EFCAB6 Gene:
Hs.658996mRNA Expression by UniProt/SwissProt for EFCAB6 Gene:
Q5THR3-EFCB6_HUMANEvidence on tissue expression from TISSUES for EFCAB6 Gene
- Nervous system(4.4)
- Lung(4.2)
Primer Products
-
OriGene qPCR primer pairs for EFCAB6
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | EFCAB6 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | EFCAB6 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | EFCAB6 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Efcab6 33 |
|
||
mouse (Mus musculus) |
Mammalia | Efcab6 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | EFCAB6 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | EFCAB6 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | EFCAB6 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | EFCAB6 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | efcab6 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32637 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | im:7142172 33 |
|
||
EFCAB6 34 |
|
OneToOne | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for EFCAB6 Gene
No data available for Paralogs for EFCAB6 Gene
Variants 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 |
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
- 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
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
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Sources for EFCAB6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
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