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

Gene ID: 200942, updated on 23-Nov-2021

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
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

See KLHDC8B in Genome Data Viewer
Location:
3p21.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49171120..49176487)
105.20201022 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 coiled-coil domain containing 71 Neighboring gene chromosome 3 open reading frame 84 Neighboring gene interactor of HORMAD1 1

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
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11302, MGC35097

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in mitotic cytokinetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
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
 
located_in intercellular bridge IDA
Inferred from Direct Assay
more info
PubMed 
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)

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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_173546.3NP_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
    UniProtKB/TrEMBL
    A0A024R2X4, Q96DZ8
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49171120..49176487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264940.4XP_005264997.1  kelch domain-containing protein 8B isoform X4

    Conserved Domains (4) summary
    smart00612
    Location:4995
    Kelch; Kelch domain
    sd00038
    Location:3981
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:84135
    Kelch_1; Kelch motif
    pfam13964
    Location:144192
    Kelch_6; Kelch motif
  2. XM_006713015.3XP_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
  3. XM_006713016.3XP_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
  4. XM_005264938.3XP_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
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