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

Gene ID: 200942, updated on 5-Mar-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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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_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_006713015.4 → 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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