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Aliases for KLHDC8B Gene

Aliases for KLHDC8B Gene

  • Kelch Domain Containing 8B 2 3 5
  • Kelch Domain-Containing Protein 8B 3
  • CHL 3

External Ids for KLHDC8B Gene

Previous GeneCards Identifiers for KLHDC8B Gene

  • GC03P049185

Summaries for KLHDC8B Gene

Entrez Gene Summary for KLHDC8B Gene

  • 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]

GeneCards Summary for KLHDC8B Gene

KLHDC8B (Kelch Domain Containing 8B) is a Protein Coding gene. Diseases associated with KLHDC8B include Lymphoma, Hodgkin, Classic and Hodgkin's Lymphoma, Nodular Sclerosis. An important paralog of this gene is KLHDC8A.

UniProtKB/Swiss-Prot for KLHDC8B Gene

  • Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010).

Additional gene information for KLHDC8B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC8B Gene

Genomics for KLHDC8B Gene

GeneHancer (GH) Regulatory Elements for KLHDC8B Gene

Promoters and enhancers for KLHDC8B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I049170 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.8 1796 5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF213 E2F8 KLHDC8B WDR6 AMT CCDC36 LAMB2 C3orf62 USP4 QARS C3orf84
GH03I049409 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.5 +242.7 242687 8.9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 RHOA TCTA AMT CCDC71 WDR6 SEMA3F-AS1 QRICH1 FAM212A RBM5 DAG1
GH03I050154 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +992.7 992689 18.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 FOS SEMA3F RBM6 RBM5 MON1A GNAI2 HYAL3 CYB561D2 CCDC36 MAPKAPK3 KLHDC8B
GH03I049217 Enhancer 1.2 Ensembl ENCODE 11.4 +47.6 47562 2.1 FOXA2 MLX ZNF133 ARID4B DMAP1 ZNF48 GTF3C2 SLC30A9 ATF7 FOS WDR6 AMT RBM5 CCDC36 C3orf84 P4HTM C3orf62 USP4 KLHDC8B CCDC71
GH03I049248 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.7 +77.8 77810 1.5 ATF1 SMAD1 JUN MAX CEBPG EGR1 ATF7 CREM HLF CEBPB AMT WDR6 USP4 C3orf62 LAMB2 KLHDC8B CCDC71 DALRD3 RHOA ARIH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHDC8B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHDC8B gene promoter:

Genomic Locations for KLHDC8B Gene

Genomic Locations for KLHDC8B Gene
chr3:49,171,120-49,176,486
(GRCh38/hg38)
Size:
5,367 bases
Orientation:
Plus strand
chr3:49,209,018-49,213,919
(GRCh37/hg19)

Genomic View for KLHDC8B Gene

Genes around KLHDC8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC8B Gene

Proteins for KLHDC8B Gene

  • Protein details for KLHDC8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXV7-KLD8B_HUMAN
    Recommended name:
    Kelch domain-containing protein 8B
    Protein Accession:
    Q8IXV7

    Protein attributes for KLHDC8B Gene

    Size:
    354 amino acids
    Molecular mass:
    37676 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHDC8B Gene

Post-translational modifications for KLHDC8B Gene

No Post-translational modifications

Other Protein References for KLHDC8B Gene

No data available for DME Specific Peptides for KLHDC8B Gene

Domains & Families for KLHDC8B Gene

Gene Families for KLHDC8B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KLHDC8B Gene

Suggested Antigen Peptide Sequences for KLHDC8B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHDC8B: view

No data available for UniProtKB/Swiss-Prot for KLHDC8B Gene

Function for KLHDC8B Gene

Molecular function for KLHDC8B Gene

UniProtKB/Swiss-Prot Function:
Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010).

Phenotypes From GWAS Catalog for KLHDC8B Gene

Gene Ontology (GO) - Molecular Function for KLHDC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHDC8B: view
genes like me logo Genes that share phenotypes with KLHDC8B: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC8B Gene

Localization for KLHDC8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC8B Gene

Cytoplasm. Midbody. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis. {ECO:0000269 PubMed:19706467, ECO:0000269 PubMed:20107318}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHDC8B gene
Compartment Confidence
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLHDC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0030496 midbody IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHDC8B: view

Pathways & Interactions for KLHDC8B Gene

SuperPathways for KLHDC8B Gene

No Data Available

Interacting Proteins for KLHDC8B Gene

Gene Ontology (GO) - Biological Process for KLHDC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with KLHDC8B: view

No data available for Pathways by source and SIGNOR curated interactions for KLHDC8B Gene

Drugs & Compounds for KLHDC8B Gene

No Compound Related Data Available

Transcripts for KLHDC8B Gene

Unigene Clusters for KLHDC8B Gene

Kelch domain containing 8B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC8B Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: -
SP3: - - -
SP4: - -
SP5: -

Relevant External Links for KLHDC8B Gene

GeneLoc Exon Structure for
KLHDC8B
ECgene alternative splicing isoforms for
KLHDC8B

Expression for KLHDC8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHDC8B Gene

mRNA differential expression in normal tissues according to GTEx for KLHDC8B Gene

This gene is overexpressed in Adrenal Gland (x4.7).

Protein differential expression in normal tissues from HIPED for KLHDC8B Gene

This gene is overexpressed in Adrenal (42.5) and Testis (26.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHDC8B Gene



Protein tissue co-expression partners for KLHDC8B Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHDC8B Gene:

KLHDC8B

SOURCE GeneReport for Unigene cluster for KLHDC8B Gene:

Hs.13781

Evidence on tissue expression from TISSUES for KLHDC8B Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KLHDC8B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC8B Gene

Orthologs for KLHDC8B Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHDC8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHDC8B 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia KLHDC8B 33 34
  • 91.34 (n)
cow
(Bos Taurus)
Mammalia KLHDC8B 33 34
  • 90.4 (n)
rat
(Rattus norvegicus)
Mammalia Klhdc8b 33
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Klhdc8b 33 16 34
  • 89.92 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC8B 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC8B 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC8B 33 34
  • 70.55 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC8B 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8b 33
  • 67.31 (n)
zebrafish
(Danio rerio)
Actinopterygii klhdc8b 34
  • 63 (a)
OneToOne
LOC799189 33
  • 62.93 (n)
worm
(Caenorhabditis elegans)
Secernentea C53A5.11 34
  • 14 (a)
ManyToMany
C53A5.9 34
  • 13 (a)
ManyToMany
C53A5.6 34
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9566 34
  • 19 (a)
ManyToMany
Species where no ortholog for KLHDC8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLHDC8B Gene

ENSEMBL:
Gene Tree for KLHDC8B (if available)
TreeFam:
Gene Tree for KLHDC8B (if available)

Paralogs for KLHDC8B Gene

Paralogs for KLHDC8B Gene

(1) SIMAP similar genes for KLHDC8B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KLHDC8B: view

Variants for KLHDC8B Gene

Sequence variations from dbSNP and Humsavar for KLHDC8B Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs387906223 pathogenic, Hodgkin lymphoma 49,171,662(+) C/T 5_prime_UTR_variant
rs1000172589 -- 49,176,504(+) T/G downstream_transcript_variant
rs1000315059 -- 49,171,639(+) G/A 5_prime_UTR_variant
rs1000620034 -- 49,174,220(+) A/G intron_variant
rs1000667106 -- 49,171,874(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC8B Gene

Variant ID Type Subtype PubMed ID
nsv834686 CNV loss 17160897
nsv1008750 CNV gain 25217958

Variation tolerance for KLHDC8B Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHDC8B Gene

Human Gene Mutation Database (HGMD)
KLHDC8B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC8B Gene

Disorders for KLHDC8B Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLHDC8B Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lymphoma, hodgkin, classic
  • chl
hodgkin's lymphoma, nodular sclerosis
  • classical hodgkin lymphoma, nodular sclerosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLD8B_HUMAN
  • Lymphoma, Hodgkin, classic (CHL) [MIM:236000]: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. {ECO:0000269 PubMed:19706467}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A variant in the 5-UTR of KLHDC8B, responsible for decreasing its expression, is associated with classic Hodgkin lymphoma and segregates with the disease in some families (PubMed:19706467). {ECO:0000269 PubMed:19706467}.
  • Note=A chromosomal aberration disrupting KLHDC8B has been found in a family with the nodular sclerosis type of Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31).

Additional Disease Information for KLHDC8B

genes like me logo Genes that share disorders with KLHDC8B: view

No data available for Genatlas for KLHDC8B Gene

Publications for KLHDC8B Gene

  1. The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability. (PMID: 22988245) Krem MM … Horwitz MS (The Journal of biological chemistry 2012) 3 4 58
  2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58
  3. Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma. (PMID: 20107318) Krem MM … Horwitz MS (Cell cycle (Georgetown, Tex.) 2010) 3 4 58
  4. Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. (PMID: 19706467) Salipante SJ … Horwitz MS (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58

Products for KLHDC8B Gene

Sources for KLHDC8B Gene

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