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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KBTBD12 Gene

protein-coding   GIFtS: 41
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)
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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KBTBD12
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKBTBD12 promoter sequence
   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: 3q21.3

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 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 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q3ZCT8

  • KBTBD12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KBTBD12 Protein Expression
    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)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing

    5/7 InterPro protein domains (see all 7):
     IPR017096 Kelch-like_gigaxonin
     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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    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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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KBTBD12

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KBTBD12 (KBTBC)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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_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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      QIAGEN 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 AI202009 NM_207335 AI038623 BX537865 AI042203 BC041365 
    BX503889 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™, 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 <intensity>2/3
    CGAP TAG: ACCCTCCCCA
    KBTBD12 Expression
    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
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KBTBD12 gene from 4/11 species (see all 11)    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(n)1
    91.03(a)1
      6 (39.51 cM)5
    745891  NM_001142724.11  NP_001136196.11 
     885477225 
    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
    Uncharacterized protein
    74(a)
    1 ↔ 1
    2(165802572-165854965)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KBTBD12 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD22  KLHL242  ENC12  KLHL382  
    KLHL292  KBTBD32  KLHL232  KLHL402  KLHL72  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) 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

    10/1126 SNPs in KBTBD12 are shown (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: --
    SABiosciences Cancer Mutation 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.)
    About This Section

    KBTBD12 for disorders           About MalaCards

    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)
    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

    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. (2010)
    2. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    3. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (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. (2002)
    8. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 166348 HGNC: 25731 AceView: FLJ46299 Ensembl:ENSG00000187715 euGenes: HUgn166348
    ECgene: KBTBD12 H-InvDB: KBTBD12

    (According to HUGE)
    About This Section
      --

    (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
    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.)
    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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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