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Aliases for KLHDC8B Gene

Aliases for KLHDC8B Gene

  • Kelch Domain Containing 8B 2 3 5
  • 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 GAN.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around KLHDC8B on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KLHDC8B Gene at MOPED

Post-translational modifications for KLHDC8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHDC8B Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q8IXV7

UniProtKB/Swiss-Prot:

KLD8B_HUMAN :
  • Contains 8 Kelch repeats.
Similarity:
  • Contains 8 Kelch repeats.
genes like me logo Genes that share domains with KLHDC8B: view

No data available for Gene Families for KLHDC8B Gene

Function for KLHDC8B Gene

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

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for KLHDC8B Gene COMPARTMENTS Subcellular localization image for KLHDC8B gene
Compartment Confidence
cytosol 3
mitochondrion 2
extracellular 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for KLHDC8B Gene

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

None

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:

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 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, MOPED, and MaxQB for KLHDC8B Gene



SOURCE GeneReport for Unigene cluster for KLHDC8B Gene Hs.13781

genes like me logo Genes that share expression patterns with KLHDC8B: view

Protein tissue co-expression partners for KLHDC8B Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KLHDC8B 35
  • 90.4 (n)
  • 96.89 (a)
KLHDC8B 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC8B 35
  • 91.34 (n)
  • 96.61 (a)
KLHDC8B 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc8b 35
  • 89.92 (n)
  • 97.74 (a)
Klhdc8b 16
Klhdc8b 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHDC8B 35
  • 99.62 (n)
  • 99.72 (a)
KLHDC8B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc8b 35
  • 90.11 (n)
  • 97.46 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHDC8B 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC8B 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC8B 35
  • 70.55 (n)
  • 69.32 (a)
KLHDC8B 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC8B 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8b 35
  • 67.31 (n)
  • 66.54 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC799189 35
  • 62.93 (n)
  • 63.51 (a)
klhdc8b 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C53A5.11 36
  • 14 (a)
ManyToMany
C53A5.6 36
  • 12 (a)
ManyToMany
C53A5.9 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9566 36
  • 19 (a)
ManyToMany
Species with no ortholog for KLHDC8B:
  • 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
rs9586 -- 49,176,204(-) GGTCT(A/G)CAGGG utr-variant-3-prime
rs11552 -- 49,176,363(-) GGCAC(A/T)GAGAG utr-variant-3-prime
rs9813813 -- 49,169,660(+) AAAAA(A/T)AAATA upstream-variant-2KB
rs9814987 -- 49,170,416(+) CCTTG(C/T)TCTTG upstream-variant-2KB
rs7617480 -- 49,173,299(+) CCTAG(A/C)TTTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294
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

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 48 67
  2. 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
  3. Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma. (PMID: 20107318) Krem M.M. … Horwitz M.S. (Cell Cycle 2010) 3
  4. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PMID: 20467438) Arbuckle M.I. … Grant S.G. (EMBO Rep. 2010) 3
  5. 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

Products for KLHDC8B Gene

Sources for KLHDC8B Gene

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