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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 Hodgkin Lymphoma and Cd81-Related Common Variable Immune Deficiency. An important paralog of this gene is KLHDC8A.

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

Genomics for KLHDC8B Gene

Regulatory Elements for KLHDC8B Gene

Enhancers for KLHDC8B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G049409 1.6 Ensembl ENCODE dbSUPER 10.5 +242.7 242687 8.9 HDGF PKNOX1 FOXA2 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 SLC30A9 AMT CCDC71 WDR6 SEMA3F-AS1 QRICH1 FAM212A DAG1 RNA5SP130 TMEM115 USP4
GH03G049248 1.4 FANTOM5 Ensembl ENCODE 10.7 +77.8 77810 1.5 ATF1 JUN MAX CEBPG ZNF366 EGR1 CREM HLF CEBPB ATF2 AMT WDR6 USP4 C3orf62 LAMB2 KLHDC8B CCDC71 DALRD3 RHOA ARIH2
GH03G049217 1.3 Ensembl ENCODE 11.4 +47.6 47562 2.1 FOXA2 MLX ZNF133 ARID4B DMAP1 ZNF48 GTF3C2 SLC30A9 FOS SP5 AMT WDR6 QRICH1 CCDC71 NME6 MRPS18AP1 ZNF589 SEMA3F-AS1 RHOA-IT1 CCDC36
GH03G049320 1.2 FANTOM5 10.4 +150.0 150035 0.6 HDGF MLX ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF143 WDR6 C3orf62 NICN1 AMT LAMB2 CCDC71 KLHDC8B QARS USP4 IP6K1
GH03G049406 1.2 Ensembl dbSUPER 10.1 +236.0 235982 2.2 HDGF ARNT ZNF121 ZNF207 FOS NCOA1 JUNB TBX21 ZNF592 MEF2D AMT USP4 C3orf62 CCDC71 KLHDC8B MST1 TCTA RHOA-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHDC8B on UCSC Golden Path with GeneCards custom track

Promoters for KLHDC8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152190 780 1401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF143 SP3

Genomic Location for KLHDC8B Gene

Chromosome:
3
Start:
49,171,120 bp from pter
End:
49,176,486 bp from pter
Size:
5,367 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC8B Gene

No data available for DME Specific Peptides for KLHDC8B Gene

Domains & Families for KLHDC8B Gene

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 Gene Families and UniProtKB/Swiss-Prot for KLHDC8B Gene

Function 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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , 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. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis.

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

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: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:0016567 protein ubiquitination 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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia KLHDC8B 34 35
  • 91.34 (n)
cow
(Bos Taurus)
Mammalia KLHDC8B 34 35
  • 90.4 (n)
rat
(Rattus norvegicus)
Mammalia Klhdc8b 34
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Klhdc8b 34 16 35
  • 89.92 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC8B 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC8B 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC8B 34 35
  • 70.55 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC8B 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8b 34
  • 67.31 (n)
zebrafish
(Danio rerio)
Actinopterygii klhdc8b 35
  • 63 (a)
OneToOne
LOC799189 34
  • 62.93 (n)
worm
(Caenorhabditis elegans)
Secernentea C53A5.11 35
  • 14 (a)
ManyToMany
C53A5.9 35
  • 13 (a)
ManyToMany
C53A5.6 35
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9566 35
  • 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 Sequence Context AA Info Type
rs387906223 Pathogenic 49,171,662(+) GTACC(C/T)TGGCA utr-variant-5-prime
rs1000172589 -- 49,176,504(+) TGGTG(G/T)GAACT downstream-variant-500B
rs1000315059 -- 49,171,639(+) ACGGA(A/G)GCGGA utr-variant-5-prime
rs1000620034 -- 49,174,220(+) TCTGA(A/G)CTACT intron-variant
rs1000667106 -- 49,171,874(+) TCCTG(C/T)GAGGG intron-variant

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

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

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hodgkin lymphoma
  • hodgkin's lymphoma
cd81-related common variable immune deficiency
  • immunodeficiency, common variable, 6
- 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).

Relevant External Links for KLHDC8B

Genetic Association Database (GAD)
KLHDC8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks C.E. … Murray A. (Nat. Genet. 2010) 3 46 64
  2. Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. (PMID: 19706467) Salipante S.J. … Horwitz M.S. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64
  5. The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability. (PMID: 22988245) Krem M.M. … Horwitz M.S. (J. Biol. Chem. 2012) 3 64

Products for KLHDC8B Gene

Sources for KLHDC8B Gene

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