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

    Gene ID: 200942, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KLHDC8B in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49171598..49176486)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49194510..49204554)
    105.20220307 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 chromosome 3 open reading frame 84 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    kelch domain-containing protein 8B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_173546.3NP_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:176222
      Kelch; Kelch domain
      PRK14131
      Location:1304
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:271319
      Kelch_6; Kelch motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_006713015.4XP_006713078.1  kelch domain-containing protein 8B isoform X1

      Conserved Domains (5) summary
      smart00612
      Location:139184
      Kelch; Kelch domain
      PRK14131
      Location:1321
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:2165
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:288336
      Kelch_6; Kelch motif
    2. XM_006713016.4XP_006713079.1  kelch domain-containing protein 8B isoform X2

      Conserved Domains (5) summary
      smart00612
      Location:186232
      Kelch; Kelch domain
      PRK14131
      Location:1314
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:69113
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:281329
      Kelch_6; Kelch motif
    3. XM_005264938.4XP_005264995.1  kelch domain-containing protein 8B isoform X3

      Conserved Domains (5) summary
      smart00612
      Location:129174
      Kelch; Kelch domain
      PRK14131
      Location:1311
      PRK14131; N-acetylneuraminic acid mutarotase; Provisional
      sd00038
      Location:2165
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:68114
      Kelch_1; Kelch motif
      pfam13964
      Location:278326
      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_054345635.1XP_054201610.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7
    2. XM_054345634.1XP_054201609.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7
    3. XM_054345633.1XP_054201608.1  kelch domain-containing protein 8B isoform X4

      UniProtKB/Swiss-Prot
      Q8IXV7
    4. XM_054345630.1XP_054201605.1  kelch domain-containing protein 8B isoform X1

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

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