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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

NG_027702.1 RefSeqGene

Range

5014..9902

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

49171598..49176486

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

49194510..49204554

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q8IXV7
XM_054345634.1 → XP_054201609.1 kelch domain-containing protein 8B isoform X4

UniProtKB/Swiss-Prot

Q8IXV7
XM_054345633.1 → XP_054201608.1 kelch domain-containing protein 8B isoform X4

UniProtKB/Swiss-Prot

Q8IXV7
XM_054345630.1 → XP_054201605.1 kelch domain-containing protein 8B isoform X1
XM_054345631.1 → XP_054201606.1 kelch domain-containing protein 8B isoform X2
XM_054345632.1 → XP_054201607.1 kelch domain-containing protein 8B isoform X3