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KLHDC7B Gene

protein-coding   GIFtS: 42
GCID: GC22P050986

Kelch Domain Containing 7B

  See related disease
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 Domain Containing 7B1 2
Kelch Domain-Containing Protein 7B2

External Ids:    HGNC: 251451   Entrez Gene: 1137302   Ensembl: ENSG000001304877   UniProtKB: Q96G423   

Export aliases for KLHDC7B gene to outside databases

Previous GC identifers: GC22P049277 GC22P049333 GC22P033877


(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 KLHDC7B Gene:
KLHDC7B (kelch domain containing 7B) is a protein-coding gene. Diseases associated with KLHDC7B include breast cancer. An important paralog of this gene is KLHL42.


(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_000022.11  NC_018933.2  NT_011526.8  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHDC7B gene promoter:
         Sp1   Brachyury   MIF-1   RORalpha2   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHDC7B promoter sequence
   Search Chromatin IP Primers for KLHDC7B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHDC7B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

KLHDC7B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHDC7B gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P050986:  view genomic region     (about GC identifiers)

Start:
50,986,462 bp from pter      End:
50,989,452 bp from pter
Size:
2,991 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: KLD7B_HUMAN, Q96G42 (See protein sequence)
Recommended Name: Kelch domain-containing protein 7B  
Size: 594 amino acids; 63314 Da
Caution: It is uncertain whether Met-1 or Met-100 is the initiator
Sequence caution: Sequence=AAH09980.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for KLHDC7B: NX_Q96G42

Explore proteomics data for KLHDC7B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KLHDC7B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612442.2  
    ENSEMBL proteins: 
     ENSP00000379034  

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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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    2 InterPro protein domains:
     IPR006652 Kelch_1
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q96G42

    ProtoNet protein and cluster: Q96G42

    UniProtKB/Swiss-Prot: KLD7B_HUMAN, Q96G42
    Similarity: Contains 5 Kelch repeats


    KLHDC7B 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 ----
         
    KLHDC7B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLHDC7B:
     Increased HPV18 LCR reporter a 

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    SwitchGear 3'UTR luciferase reporter plasmidKLHDC7B 3' UTR sequence
    Inhib. RNA
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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
    mitochondrion1
    peroxisome1

    (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 KLHDC7B
    Interactions:

        Search GeneGlobe Interaction Network for KLHDC7B

    (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 KLHDC7B (KLD7B)



    (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 KLHDC7B gene: 
    NM_138433.3  

    Unigene Cluster for KLHDC7B:

    Kelch domain containing 7B
    Hs.137007  [show with all ESTs]
    Unigene Representative Sequence: NM_138433
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000395676(uc003bmi.3)
    miRNA
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    hsa-miR-516b hsa-miR-1324 hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidKLHDC7B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat KLHDC7B
      QuantiFast Probe-based Assays in human, mouse, rat KLHDC7B

    Additional mRNA sequence: BC009980.2 

    2 DOTS entries:

    DT.100021571  DT.40249922 

    Selected AceView cDNA sequences (see all 28):

    AI631846 BX089801 NM_138433 BI910665 AI272025 BC009980 CN479146 BU944606 
    BU858268 BU537910 BQ072748 BI060599 AA854620 BU858006 BU537962 BU944627 
    BU538676 BI759479 BU538452 AW794185 BU557985 AW170304 BQ278699 BQ279016 

    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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    KLHDC7B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KLHDC7B Expression
    About this image

    KLHDC7B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHDC7B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.137007
        Custom PCR Arrays for KLHDC7B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHDC7B

    (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 KLHDC7B gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhdc7b1 , 5 kelch domain containing 7B1, 5 75.59(n)1
    72.37(a)1
      15 (44.87 cM)5
    5466481  NM_001160178.11  NP_001153650.11 
     893868275 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia klhdc7b1 kelch domain containing 7B 51.97(n)
    46.83(a)
      100496709  XM_002939529.2  XP_002939575.2 


    ENSEMBL Gene Tree for KLHDC7B (if available)
    TreeFam Gene Tree for KLHDC7B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHDC7B gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  
    KLHL322  KLHL92  KLHL142  KLHL152  KLHL362  KLHL332  KLHDC7A2  
    2 SIMAP similar genes for KLHDC7B using alignment to 1 protein entry:     KLD7B_HUMAN:
    KBTBD11    KLHDC7A

    KLHDC7B 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 KLHDC7B (see all 120)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919366441,2
    --50984591(+) CAGGCA/GCTGGC 1 -- us2k10--------
    rs72883731,2
    C--50984599(+) GGCCGG/TTGCCT 1 -- us2k13Minor allele frequency- T:0.20CSA WA NA 239
    rs412823511,2
    C,F--50984708(+) CCCCTC/GTGGGG 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1822607121,2
    --50984738(+) AATGAC/TTGGGA 1 -- us2k10--------
    rs1876256141,2
    --50984791(+) CACAGC/TGCTGG 1 -- us2k10--------
    rs1151139031,2
    C,F--50984792(+) ACAGCG/CCTGGC 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1179613891,2
    C,F--50985023(+) CTGGCC/AGCCAT 1 -- us2k11Minor allele frequency- A:0.17NA 120
    rs783225921,2
    F--50985195(+) CCCCCT/CTCCTG 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1115282021,2
    C,F--50985204(+) TGATCC/TACTTC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs57708811,2
    C,F,H--50985269(+) TCCTCT/CCGCCA 1 -- us2k114Minor allele frequency- C:0.31NS EA WA NA 2042

    HapMap Linkage Disequilibrium report for KLHDC7B (50986462 - 50989452 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KLHDC7B (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv914559CNV Loss21882294
    nsv915495CNV Loss21882294
    dgv5065n71CNV Loss21882294
    dgv5062n71CNV Loss21882294
    nsv914554CNV Loss21882294
    nsv834238CNV Loss17160897
    nsv914525CNV Loss21882294
    nsv914543CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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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    1 disease for KLHDC7B:    
    About MalaCards
    breast cancer


    KLHDC7B for disorders           About GeneDecksing


    Export disorders for KLHDC7B 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 KLHDC7B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KLHDC7B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Hs.137007 is a novel epigenetic marker hypermethylated and up-regulated in breast cancer. (PubMed id 20372783)1 Kim T.W....Kim S.J. (Int. J. Oncol. 2010)
    3. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PubMed id 20139978)1 Kamatani Y....Kamatani N. (Nat. Genet. 2010)
    4. 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)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 113730 HGNC: 25145 AceView: MGC16635 Ensembl:ENSG00000130487 euGenes: HUgn113730
    ECgene: KLHDC7B H-InvDB: KLHDC7B

    (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 KLHDC7B 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 KLHDC7B gene:
    Search GeneIP for patents involving KLHDC7B

    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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