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

KLHDC7B Gene

protein-coding   GIFtS: 39
GCID: GC22P050986

kelch domain containing 7B

 Explore 1 disease affiliated with
KLHDC7B via our new
 Human Malady Compendium 
Biological research products
for KLHDC7B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Kelch Domain Containing 7B1 2
MGC166351
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_000022.10  NC_018933.1  NT_011526.7  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KLHDC7B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96G42

  • KLHDC7B Protein expression data from MOPED and PaxDb:    About this image 
    KLHDC7B Protein Expression
    REFSEQ proteins: NP_612442.2  
    ENSEMBL proteins: 
     ENSP00000379034  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KLHDC7B for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KLHDC7B 

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    (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 KLHDC7B

    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHDC7B
    Search CenterWatch for drugs/clinical trials and news about KLHDC7B / KLD7B 

    (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,
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    About This Section

    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)

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    hsa-miR-516b hsa-miR-1324 hsa-miR-4308
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    Inhib. RNA
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    Additional cDNA sequence: BC009980.2 

    2 DOTS entries:

    DT.100021571  DT.40249922 

    24/28 AceView cDNA sequences (see all 28):

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

    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

    KLHDC7B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    KLHDC7B Expression
    About this image
    See KLHDC7B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHDC7B

    SOURCE GeneReport for Unigene cluster: Hs.137007
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KLHDC7B gene from 1/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18126
    --
    13(a)
    1 → many
    X(20382574-20386859)


    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)
    About This Section
    Paralogs for KLHDC7B gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KBTBD132  KBTBD112  KLHL312  
    KLHL92  KLHL322  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, 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

    10/90 NCBI SNPs in KLHDC7B are shown (see all 90    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
    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
    F--50984792(+) ACAGCG/CCTGGC 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1179613891,2
    F--50985023(+) CTGGCC/AGCCAT 1 -- us2k11Minor allele frequency- A:0.17NA 120
    rs783225921,2
    --50985195(+) CCCCCT/CTCCTG 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1115282021,2
    C--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KLHDC7B
         2 CNVs: 4139 5192

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    (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

    KLHDC7B for disorders           About GeneDecksing

    1 disease for KLHDC7B:    About MalaCards
    breast cancer


    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)
    About This Section

    PubMed articles for KLHDC7B gene integrated from 9 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. (2004)
    2. Hs.137007 is a novel epigenetic marker hypermethylate d and up-regulated in breast cancer. (PubMed id 20372783)1 Kim T.W....Kim S.J. (2010)
    3. 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)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

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

    (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 KLHDC7B 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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