KBTBD12 Gene
protein-coding GIFtS: 39
GCID: GC03P127635
|
|
kelch repeat and BTB (POZ) domain containing 12(Previous name: kelch domain containing 6 ) (Previous symbol: KLHDC6)
| |
Aliases for KBTBD12 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Kelch Repeat And BTB (POZ) Domain Containing 121 2 | | KLHDC61 2 3 | | Kelch Domain Containing 61 2 | | Kelch Domain-Containing Protein 62 3 | | FLJ462991 | | Kelch Repeat And BTB Domain-Containing Protein 122 |
Export aliases for KBTBD12 gene to outside databasesPrevious GC identifers: GC03P129124 GC03P125022 |
Summaries for KBTBD12 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for KBTBD12 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for KBTBD12 Other transcription factors
Search SABiosciences Chromatin IP Primers for KBTBD12
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD12 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21.3KBTBD12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P127635: view genomic region
(about GC identifiers)
Start:
|
127,634,075 bp from pter |
End:
|
127,706,514 bp from pter |
Size:
|
72,440 bases |
Orientation:
|
plus strand |
|
Proteins for KBTBD12 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: KBTBC_HUMAN, Q3ZCT8 (See
protein sequence)Recommended Name: Kelch repeat and BTB domain-containing protein 12 Size: 623 amino acids; 71096 Da
Secondary accessions: B5MCC6 Q6ZRK1Alternative splicing: 2 isoforms: Q3ZCT8-1 Q3ZCT8-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for KBTBD12: NX_Q3ZCT8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q3ZCT8 KBTBD12 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_997218.2 ENSEMBL proteins: ENSP00000385957 ENSP00000385830 ENSP00000345478 ENSP00000385879 Human Recombinant Protein Products:
KBTBD12 Antibody Products: Assay Products for KBTBD12: |
Protein
Domains / Families for KBTBD12 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KBTBD12 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q3ZCT8ProtoNet protein and cluster: Q3ZCT8 UniProtKB/Swiss-Prot: KBTBC_HUMAN, Q3ZCT8Similarity: Contains 1 BACK (BTB/Kelch associated) domainSimilarity: Contains 1 BTB (POZ) domainSimilarity: Contains 4 Kelch repeats |
Function for KBTBD12 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KBTBD12 (NM_207335) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KBTBD12 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KBTBD12  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD12 |
1 GenomeRNAi human phenotype for KBTBD12:
|
Pathways & Interactions for KBTBD12 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KBTBD12
|
Drugs & Compounds for KBTBD12 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for KBTBD12 Search CenterWatch for drugs/clinical trials and news about KBTBD12 / KBTBC 
|
Transcripts for KBTBD12 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for KBTBD12 gene: NM_207335.2 Unigene Cluster for KBTBD12: Kelch repeat and BTB (POZ) domain containing 12 Hs.132087 [show with all ESTs]Unigene Representative Sequence: NM_2073357 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000405109 ENST00000476626 ENST00000407609(uc003ejy.4 uc010hsq.3) ENST00000497045(uc003ejz.2) ENST00000343941 ENST00000492025 ENST00000405256(uc010hsr.3 uc003eka.4)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KBTBD12 (NM_207335) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KBTBD12 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KBTBD12  |
Additional cDNA sequence: AK128176.1 AK307108.1 BC041365.1 BX537865.1 2 DOTS entries: DT.101968153 DT.101976349 12 AceView cDNA sequences: BX114863 AK128176 AI202009 NM_207335 AI038623 BC041365 BX503889 AI042203 BX537865 BI460968 AJ346017 BF967145 GeneLoc Exon Structure
|
Expression for KBTBD12 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KBTBD12 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACCCTCCCCA
About this image See KBTBD12 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KBTBD12
SOURCE GeneReport for Unigene cluster: Hs.132087 SABiosciences Custom PCR Arrays for KBTBD12
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KBTBD12 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KBTBD12 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KBTBD12 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KBTBD12 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD12 |
Orthologs for KBTBD12 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for KBTBD12 gene from 3/15 species (see all 15) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
KBTBD121 |
kelch repeat and BTB (POZ) domain containing 12 |
75.28(n) 75.44(a) |
  |
427587 XM_425160.2 XP_425160.2 |
lizard (Anolis carolinensis) |
Reptilia |
KBTBD126 |
-- |
74(a) |
1 ↔ 1 |
2(165802572-165846375) |
zebrafish (Danio rerio) |
Actinopterygii |
kbtbd121 |
kelch repeat and BTB (POZ) domain containing 12 |
60.03(n) 57.57(a) |
  |
559380 NM_001033917.1 NP_001029089.1 |
ENSEMBL Gene Tree for KBTBD12 (if available) TreeFam Gene Tree for KBTBD12 (if available)  |
Paralogs for KBTBD12 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for KBTBD12 gene
- KLHL402 KBTBD72 KLHL72 KBTBD22 KBTBD82 KBTBD62 KLHL412
2 SIMAP similar genes for KBTBD12 using alignment to 2 protein entries: KBTBC_HUMAN (see all proteins):DKFZp779E2271 KBTBD3
KBTBD12 for paralogs About GeneDecksing
|
Genomic Variants for KBTBD12 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for KBTBD12 (127634075 - 127706514 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for KBTBD12: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KBTBD12 |
|
Disorders
/ Diseases for KBTBD12 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KBTBD12 for disorders About MalaCards
KBTBD12 for disorders About GeneDecksing
Human Genome Epidemiology (HuGE) Navigator: KBTBD12 (1 document) Export disorders for KBTBD12 gene to outside databases
|
Publications for KBTBD12 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KBTBD12 gene integrated from 9 sources: (articles sorted by number of sources associating them with KBTBD12) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)
|
External Searches for KBTBD12 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KBTBD12 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KBTBD12 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KBTBD12 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for KBTBD12 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KBTBD12 gene: Search GeneIP for patents involving KBTBD12
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for KBTBD12 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for KBTBD12 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KBTBD12 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KBTBD12 | | OriGene Protein Over-expression Lysate for KBTBD12 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for KBTBD12 | | Browse 3'-UTR reporter clones for miRNA target validation | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD12 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for KBTBD12 | | OriGene Custom Protein Services for KBTBD12 | | OriGene Custom Immunoassay Development | | |
| |  |
 |
| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KBTBD12 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KBTBD12 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD12 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KBTBD12 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KBTBD12 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KBTBD12 |
| |
 |  |  |  | |
| | | Search Tocris compounds for KBTBD12 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | KBTBD12 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD12 |
|  |  |  | | | ThermoFisher Antibodies for KBTBD12 |
| | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KBTBD12 |
|
|
|
|