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KBTBD12 Gene

protein-coding   GIFtS: 40
GCID: GC03P127635

Kelch Repeat And BTB (POZ) Domain Containing 12

(Previous name: kelch domain containing 6)
(Previous symbol: KLHDC6)
  Search for KBTBD12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kelch Repeat And BTB (POZ) Domain Containing 121 2
KLHDC61 2 3
Kelch Domain Containing 61 2
Kelch Domain-Containing Protein 62 3
Kelch Repeat And BTB Domain-Containing Protein 122

External Ids:    HGNC: 257311   Entrez Gene: 1663482   Ensembl: ENSG000001877157   UniProtKB: Q3ZCT83   

Export aliases for KBTBD12 gene to outside databases

Previous GC identifers: GC03P129124 GC03P125022


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KBTBD12 Gene:
KBTBD12 (kelch repeat and BTB (POZ) domain containing 12) is a protein-coding gene. An important paralog of this gene is KLHL21.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KBTBD12
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKBTBD12 promoter sequence
   Search Chromatin IP Primers for KBTBD12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 3q21.3

KBTBD12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KBTBD12 gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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 Q6ZRK1
Alternative splicing: 2 isoforms:  Q3ZCT8-1   Q3ZCT8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KBTBD12: NX_Q3ZCT8

Explore proteomics data for KBTBD12 at MOPED


See KBTBD12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997218.2  
ENSEMBL proteins: 
 ENSP00000385957   ENSP00000385830   ENSP00000345478   ENSP00000385879  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
BTBD: BTB/POZ domain containing

Selected InterPro protein domains (see all 7):
 IPR017096 Kelch-like_gigaxonin-typ
 IPR000210 BTB/POZ-like
 IPR006652 Kelch_1
 IPR011333 BTB/POZ_fold
 IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry Q3ZCT8

ProtoNet protein and cluster: Q3ZCT8

UniProtKB/Swiss-Prot: KBTBC_HUMAN, Q3ZCT8
Similarity: Contains 1 BACK (BTB/Kelch associated) domain
Similarity: Contains 1 BTB (POZ) domain
Similarity: Contains 4 Kelch repeats


KBTBD12 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
KBTBD12 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for KBTBD12:
 Synthetic lethal with c-Myc af 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
golgi apparatus1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KBTBD12
Interactions:

    Search GeneGlobe Interaction Network for KBTBD12

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KBTBD12 (KBTBC)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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_207335
7 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)

miRNA
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hsa-miR-142-5p hsa-miR-2115 hsa-miR-340 hsa-miR-218
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat KBTBD12

Additional mRNA sequence: 

AK128176.1 AK307108.1 BC041365.1 BX537865.1 

2 DOTS entries:

DT.101968153  DT.101976349 

12 AceView cDNA sequences:

AK128176 BX114863 NM_207335 AI202009 AI038623 AI042203 BX503889 BX537865 
BC041365 BI460968 AJ346017 BF967145 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KBTBD12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCCTCCCCA
KBTBD12 Expression
About this image

KBTBD12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KBTBD12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.132087
    Custom PCR Arrays for KBTBD12
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD12

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for KBTBD12 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kbtbd121 , 5 kelch repeat and BTB (POZ) domain containing 121, 5 87.22(n)1
92.11(a)1
  6 (39.51 cM)5
745891  NM_001278671.11  NP_001265600.11 
 885473405 
chicken
(Gallus gallus)
Aves KBTBD121 kelch repeat and BTB (POZ) domain containing 12 75.28(n)
75.44(a)
  427587  XM_425160.3  XP_425160.2 
lizard
(Anolis carolinensis)
Reptilia KBTBD126
kelch repeat and BTB (POZ) domain containing 12
74(a)
1 ↔ 1
2(165802572-165854965)
tropical clawed frog
(Xenopus tropicalis)
Amphibia kbtbd121 kelch repeat and BTB (POZ) domain containing 12 68.36(n)
68.41(a)
  100489900  XM_002933082.2  XP_002933128.1 
zebrafish
(Danio rerio)
Actinopterygii kbtbd121 kelch repeat and BTB (POZ) domain containing 12 60(n)
57.38(a)
  559380  NM_001033917.2  NP_001029089.1 


ENSEMBL Gene Tree for KBTBD12 (if available)
TreeFam Gene Tree for KBTBD12 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KBTBD12 gene
KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD22  KLHL242  ENC12  KLHL382  
KLHL292  KBTBD32  KLHL232  KLHL402  KBTBD72  KLHL302  KBTBD62  KLHL252  
KLHL352  
2 SIMAP similar genes for KBTBD12 using alignment to 2 protein entries:     KBTBC_HUMAN (see all proteins):
DKFZp779E2271    KBTBD3

KBTBD12 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KBTBD12 (see all 1126)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1139413881,2
C,F--127639940(+) TTCACA/CTTTAC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
rs1500196441,2
--127639956(+) CAGTTC/TTACCA 1 -- us2k10--------
rs1161265221,2
C,F--127639981(+) TGTACA/CTGCAT 1 -- us2k11Minor allele frequency- C:0.01NA 120
rs1465452911,2
--127640260(+) ATTCCC/TATTTT 1 -- us2k10--------
rs760897041,2
C--127640462(+) ATAAAC/TCCCTA 1 -- us2k10--------
rs1163682631,2
C,F--127640754(+) AGTCAC/TCCCAA 1 -- us2k11Minor allele frequency- T:0.01NA 120
rs1412448421,2
--127640824(+) TCACTA/GCTTGC 1 -- us2k10--------
rs1451536681,2
--127640924(+) TTTAAA/GACAAA 1 -- us2k10--------
rs803051311,2
F--127640930(+) ACAAAC/TGCTAA 1 -- us2k11Minor allele frequency- T:0.01WA 118
rs67790241,2
C,F,H--127640965(+) CCCATT/GTCCAT 1 -- us2k122Minor allele frequency- G:0.19NA NS EA WA 2486

HapMap Linkage Disequilibrium report for KBTBD12 (127634075 - 127706514 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for KBTBD12: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KBTBD12
DNA2.0 Custom Variant and Variant Library Synthesis for KBTBD12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KBTBD12 for disorders           About GeneDecksing

Genetic Association Database (GAD): KBTBD12
Human Genome Epidemiology (HuGE) Navigator: KBTBD12 (1 document)

Export disorders for KBTBD12 gene to outside databases

(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)
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PubMed articles for KBTBD12 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KBTBD12)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
  4. 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. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 166348 HGNC: 25731 AceView: FLJ46299 Ensembl:ENSG00000187715 euGenes: HUgn166348
ECgene: KBTBD12 H-InvDB: KBTBD12

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KBTBD12 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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