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
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 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 |
- 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:
Regulatory Element Products
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:
-
- 22q13.31 by Ensembl
- 22q13.2-q13.31 by Entrez Gene
- 22q13.2-q13.31 by HGNC
EFCAB6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
No Post-translational modifications
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
Antibody Products
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Protein Products
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Assay Products
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Quality Products:
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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Cell Line 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 1 |
- 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
-
OriGene CRISPR knockouts for EFCAB6
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
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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: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| 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
This gene is overexpressed in Testis (x20.0).
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
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_HUMAN
Tissue specificity:
Specifically expressed in the testis.
Evidence 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 |
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
- 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
Products for EFCAB6 Gene
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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
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew