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    KLHDC8B kelch domain containing 8B [ Homo sapiens (human) ]

    Gene ID: 200942, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KLHDC8Bprovided by HGNC
    Official Full Name
    kelch domain containing 8Bprovided by HGNC
    Primary source
    HGNC:HGNC:28557
    See related
    Ensembl:ENSG00000185909 MIM:613169; AllianceGenome:HGNC:28557
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHL
    Summary
    This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in adrenal (RPKM 31.3), ovary (RPKM 23.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHDC8B in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49171598..49176486)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49194510..49204554)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49209031..49213919)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene laminin subunit beta 2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49200790-49201290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14357 Neighboring gene coiled-coil domain containing 71 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14358 Neighboring gene ciliary microtubule inner protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49230135-49230318 Neighboring gene interactor of HORMAD1 1 Neighboring gene MPRA-validated peak4647 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19858 Neighboring gene GCSH pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. Salipante SJ, et al. Proc Natl Acad Sci U S A, 2009 Sep 1. PMID 19706467, Free PMC Article
    2. Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma pathogenesis. Krem MM, et al. Commun Integr Biol, 2013 May 1. PMID 23713010, Free PMC Article
    3. The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability. Krem MM, et al. J Biol Chem, 2012 Nov 9. PMID 22988245, Free PMC Article
    4. Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma. Krem MM, et al. Cell Cycle, 2010 Feb 15. PMID 20107318, Free PMC Article
    5. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Adams MD, et al. Nat Genet, 1993 Aug. PMID 8401585

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability
      Title: The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability.
    2. Deficiency of KLHDC8B leads to binucleated cells, implicating its involvement in Reed-Sternberg cell formation
      Title: Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma.
    3. Depletion of KLHDC8B through RNA interference leads to an increase in binucleated cells, implicating its reduced expression in the formation of classical Hodgkin lymphoma's signature Reed-Sternberg cell.
      Title: Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Classic Hodgkin lymphoma
    MedGen: C0019829 OMIM: 236000 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11302, MGC35097

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitotic cytokinetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellularization cleavage furrow IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cellularization cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in intercellular bridge IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch domain-containing protein 8B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027702.1 RefSeqGene

      Range
      5014..9902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173546.3 → NP_775817.1  kelch domain-containing protein 8B

      See identical proteins and their annotated locations for NP_775817.1

      Status: REVIEWED

      Source sequence(s)
      BC013110, BC039083, T08504
      Consensus CDS
      CCDS2791.1
      UniProtKB/Swiss-Prot
      Q8IXV7
      Related
      ENSP00000327468.2, ENST00000332780.4
      Conserved Domains (5) summary
      smart00612
      Location:176 → 222
      Kelch; Kelch domain
      PRK14131
      Location:1 → 304
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69 → 113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68 → 114
      Kelch_1; Kelch motif
      pfam13964
      Location:271 → 319
      Kelch_6; Kelch motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49171598..49176486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713015.4 → XP_006713078.1  kelch domain-containing protein 8B isoform X1

      Conserved Domains (5) summary
      smart00612
      Location:139 → 184
      Kelch; Kelch domain
      PRK14131
      Location:1 → 321
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68 → 114
      Kelch_1; Kelch motif
      pfam13964
      Location:288 → 336
      Kelch_6; Kelch motif

    2. XM_006713016.4 → XP_006713079.1  kelch domain-containing protein 8B isoform X2

      Conserved Domains (5) summary
      smart00612
      Location:186 → 232
      Kelch; Kelch domain
      PRK14131
      Location:1 → 314
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69 → 113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68 → 114
      Kelch_1; Kelch motif
      pfam13964
      Location:281 → 329
      Kelch_6; Kelch motif

    3. XM_005264938.4 → XP_005264995.1  kelch domain-containing protein 8B isoform X3

      Conserved Domains (5) summary
      smart00612
      Location:129 → 174
      Kelch; Kelch domain
      PRK14131
      Location:1 → 311
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68 → 114
      Kelch_1; Kelch motif
      pfam13964
      Location:278 → 326
      Kelch_6; Kelch motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49194510..49204554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345635.1 → XP_054201610.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7

    2. XM_054345634.1 → XP_054201609.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7

    3. XM_054345633.1 → XP_054201608.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7

    4. XM_054345630.1 → XP_054201605.1  kelch domain-containing protein 8B isoform X1

    5. XM_054345631.1 → XP_054201606.1  kelch domain-containing protein 8B isoform X2

    6. XM_054345632.1 → XP_054201607.1  kelch domain-containing protein 8B isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXV7.1 GenPept UniProtKB/Swiss-Prot:Q8IXV7

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