Aliases for KBTBD4 Gene
Aliases for KBTBD4 Gene
External Ids for KBTBD4 Gene
- HGNC: 23761
- Entrez Gene: 55709
- Ensembl: ENSG00000123444
- OMIM: 617645
- UniProtKB: Q9NVX7
Previous HGNC Symbols for KBTBD4 Gene
- BKLHD4
Previous GeneCards Identifiers for KBTBD4 Gene
- GC11M047558
- GC11M047550
- GC11M047597
- GC11M047294
- GC11M047707
- GC11M048079
- GC11M048802
- GC11M049907
- GC11M047828
- GC11M047955
- GC11M050803
- GC11M051598
- GC11M052260
- GC11M052920
- GC11M053588
Summaries for KBTBD4 Gene
GeneCards Summary for KBTBD4 Gene
KBTBD4 (Kelch Repeat And BTB Domain Containing 4) is a Protein Coding gene. An important paralog of this gene is SPOPL.
Additional gene information for KBTBD4 Gene
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD4 Gene
Genomics for KBTBD4 Gene
GeneHancer (GH) Regulatory Elements for KBTBD4 Gene
Promoters and enhancers for KBTBD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KBTBD4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KBTBD4 Gene
Genomic Locations for KBTBD4 Gene
- chr11:47,572,197-47,579,015
- (GRCh38/hg38)
- Size:
- 6,819 bases
- Orientation:
- Minus strand
- chr11:47,593,749-47,600,567
- (GRCh37/hg19)
Genomic View for KBTBD4 Gene
Genes around KBTBD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by Ensembl
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
KBTBD4 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 KBTBD4 Gene
Proteins for KBTBD4 Gene
-
Protein details for KBTBD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NVX7-KBTB4_HUMAN
- Recommended name:
- Kelch repeat and BTB domain-containing protein 4
- Protein Accession:
- Q9NVX7
- D3DQS1
- D3DQS2
- Q6IA85
- Q9BUC3
- Q9NV76
Protein attributes for KBTBD4 Gene
- Size:
- 518 amino acids
- Molecular mass:
- 58144 Da
- Quaternary structure:
- No Data Available
Protein Expression for KBTBD4 Gene
Post-translational modifications for KBTBD4 Gene
Other Protein References for KBTBD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KBTBD4
- Invitrogen Antibodies for KBTBD4
- GeneTex KBTBD4 antibody for KBTBD4
Protein Products
-
OriGene Purified Proteins for KBTBD4
- Search Origene for MassSpec and Protein Over-expression Lysates for KBTBD4
- Origene Custom Protein Services for KBTBD4
- Search GeneTex for Proteins for KBTBD4
Assay Products
No data available for DME Specific Peptides for KBTBD4 Gene
Domains & Families for KBTBD4 Gene
Gene Families for KBTBD4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KBTBD4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for KBTBD4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KBTBD4 Gene
Function for KBTBD4 Gene
Phenotypes From GWAS Catalog for KBTBD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031625 | ubiquitin protein ligase binding | IBA | -- |
Phenotypes for KBTBD4 Gene
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for KBTBD4 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for KBTBD4
- genomics-online: gRNA clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
- Applied Biological Materials CRISPR for KBTBD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KBTBD4
- GenScript: Design CRISPR guide RNA sequences for KBTBD4
miRNA for KBTBD4 Gene
- miRTarBase miRNAs that target KBTBD4
miRNA Products
- Search ViGene Biosciences for KBTBD4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for KBTBD4
- Browse OriGene Inhibitory RNA Products For KBTBD4
- genomics-online: shRNA clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KBTBD4 gene
Clone Products
- Sino Biological Human cDNA Clone for KBTBD4
- VectorBuilder custom plasmid, inducible vectors for KBTBD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KBTBD4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KBTBD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KBTBD4
-
ViGene Biosciences adenoviral particle packaged cDNA for KBTBD4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KBTBD4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KBTBD4 gene
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD4 Gene
Localization for KBTBD4 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
- Cytosol (2)
- Nucleus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0019005 | SCF ubiquitin ligase complex | IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for KBTBD4 Gene
Pathways & Interactions for KBTBD4 Gene
No Data Available
Interacting Proteins for KBTBD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030162 | regulation of proteolysis | IBA | -- |
| GO:0042787 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | IBA | -- |
| GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for KBTBD4 Gene
Transcripts for KBTBD4 Gene
mRNA/cDNA for KBTBD4 Gene
- (13) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (149) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KBTBD4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KBTBD4
- genomics-online: gRNA clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
- Applied Biological Materials CRISPR for KBTBD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KBTBD4
- GenScript: Design CRISPR guide RNA sequences for KBTBD4
miRNA Products
- Search ViGene Biosciences for KBTBD4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for KBTBD4
- Browse OriGene Inhibitory RNA Products For KBTBD4
- genomics-online: shRNA clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KBTBD4 gene
Clone Products
- Sino Biological Human cDNA Clone for KBTBD4
- VectorBuilder custom plasmid, inducible vectors for KBTBD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KBTBD4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KBTBD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KBTBD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
-
Spinal Cord (Nervous System)
This gene is overexpressed in Plasma (50.5) and Fetal ovary (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KBTBD4 Gene
NURSA nuclear receptor signaling pathways regulating expression of KBTBD4 Gene:
KBTBD4SOURCE GeneReport for Unigene cluster for KBTBD4 Gene:
Hs.718483Evidence on tissue expression from TISSUES for KBTBD4 Gene
- Nervous system(4.8)
- Lymph node(4.2)
Primer Products
-
OriGene qPCR primer pairs for KBTBD4
-
OriGene qPCR primer pairs and template standards for KBTBD4
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KBTBD4 Gene
Orthologs for KBTBD4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KBTBD4 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | KBTBD4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KBTBD4 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kbtbd4 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | KBTBD4 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KBTBD4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KBTBD4 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KBTBD4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kbtbd4 33 |
|
||
| MGC76129 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | kbtbd4 33 34 |
|
||
| zgc56204 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7058 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | bath-42 34 |
|
OneToMany | |
| bath-40 34 |
|
OneToMany | |||
| bath-41 34 |
|
OneToMany |
- Species where no ortholog for KBTBD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for KBTBD4 Gene
(12) SIMAP similar genes for KBTBD4 Gene using alignment to 10 proteins:
Variants for KBTBD4 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs368907187 | likely-benign, uncertain-significance, not specified, Leigh syndrome, Mitochondrial complex I deficiency | 47,579,280(-) | C/T | upstream_transcript_variant | |
| rs375483884 | uncertain-significance, Mitochondrial complex I deficiency, Leigh syndrome | 47,579,062(-) | C/T | upstream_transcript_variant | |
| rs377579231 | uncertain-significance, Leigh syndrome, Mitochondrial complex I deficiency | 47,580,990(-) | T/C | upstream_transcript_variant | |
| rs750965789 | uncertain-significance, Leigh syndrome, Mitochondrial complex I deficiency | 47,579,051(-) | T/C/G | upstream_transcript_variant | |
| rs770306617 | uncertain-significance, Mitochondrial complex I deficiency, Leigh syndrome | 47,579,292(-) | T/C | upstream_transcript_variant |
Residual Variation Intolerance Score:
17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.78;
33.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KBTBD4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KBTBD4
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD4 Gene
Disorders for KBTBD4 Gene
Additional Disease Information for KBTBD4
No disorders were found for KBTBD4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KBTBD4 Gene
Publications for KBTBD4 Gene
- 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
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Reversible oxidation of phosphatase and tensin homolog (PTEN) alters its interactions with signaling and regulatory proteins. (PMID: 26561776) Verrastro I … Pitt AR (Free radical biology & medicine 2016) 3 58
Products for KBTBD4 Gene
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- OriGene Purified Proteins for KBTBD4
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for KBTBD4
- VectorBuilder custom plasmid, inducible vectors for KBTBD4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KBTBD4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available KBTBD4 related products ranked by validation data
- antibodies-online: Search results for available KBTBD4 related products ranked by validation data
- antibodies-online: Search results for available KBTBD4 related products ranked by validation data
- GeneTex KBTBD4 antibody for KBTBD4
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- ViGene Biosciences adenoviral particle packaged cDNA for KBTBD4 gene
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- Horizon Cell Lines for KBTBD4
- genomics-online: cdna clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
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- genomics-online: primer clones - Search results for 113 available KBTBD4 gene related products
- Overview of 113 available KBTBD4 gene related products
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- Overview of 113 available KBTBD4 gene related products
Sources for KBTBD4 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
- (158) Applied Biosystems
