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Aliases for KLHDC8A Gene

Aliases for KLHDC8A Gene

  • Kelch Domain Containing 8A 2 3 5
  • Substitute For Delta-EGFR Expression 1 3 4
  • S-Delta-E1 3 4
  • Kelch Domain-Containing Protein 8A 3

External Ids for KLHDC8A Gene

Previous GeneCards Identifiers for KLHDC8A Gene

  • GC01M202038
  • GC01M203571
  • GC01M176471

Summaries for KLHDC8A Gene

Entrez Gene Summary for KLHDC8A Gene

  • This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for KLHDC8A Gene

KLHDC8A (Kelch Domain Containing 8A) is a Protein Coding gene. An important paralog of this gene is KLHDC8B.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC8A Gene

Genomics for KLHDC8A Gene

Regulatory Elements for KLHDC8A Gene

Enhancers for KLHDC8A 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
GH01G205343 1.5 Ensembl ENCODE dbSUPER 17.4 +13.2 13163 1.3 HDGF FOXA2 FEZF1 ZNF2 TCF12 ZNF121 GLIS2 ZNF207 SP3 SP5 KLHDC8A NUAK2 LEMD1-AS1 CDK18 SNRPGP10
GH01G205349 1.4 Ensembl ENCODE dbSUPER 18.1 +6.3 6295 1.6 PKNOX1 NFIB ZSCAN4 SIN3A FEZF1 RAD21 ZBTB40 YY1 ZNF121 ZNF366 KLHDC8A SNRPGP10 NUAK2
GH01G205351 1.3 ENCODE dbSUPER 19.3 +4.5 4452 1.3 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 KLHDC8A GC01P205351
GH01G205355 1.2 ENCODE dbSUPER 18.4 +0.2 196 2.1 HDGF ATF1 RB1 RAD21 ZNF766 GATA2 EGR1 ZNF143 RELB IKZF2 KLHDC8A GC01P205351
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHDC8A on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHDC8A Gene

205,336,065 bp from pter
205,357,090 bp from pter
21,026 bases
Minus strand

Genomic View for KLHDC8A Gene

Genes around KLHDC8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC8A Gene

Proteins for KLHDC8A Gene

  • Protein details for KLHDC8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch domain-containing protein 8A
    Protein Accession:
    Secondary Accessions:
    • B3KU70
    • Q9NVG5

    Protein attributes for KLHDC8A Gene

    350 amino acids
    Molecular mass:
    38859 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHDC8A Gene

Post-translational modifications for KLHDC8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLHDC8A Gene

Domains & Families for KLHDC8A Gene

Protein Domains for KLHDC8A Gene

Suggested Antigen Peptide Sequences for KLHDC8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHDC8A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KLHDC8A Gene

Function for KLHDC8A Gene

Gene Ontology (GO) - Molecular Function for KLHDC8A 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 KLHDC8A: view
genes like me logo Genes that share phenotypes with KLHDC8A: view

Animal Model Products

CRISPR Products

miRNA for KLHDC8A Gene

miRTarBase miRNAs that target KLHDC8A

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC8A Gene

Localization for KLHDC8A Gene

Subcellular locations from

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 KLHDC8A gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KLHDC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHDC8A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHDC8A Gene

Pathways & Interactions for KLHDC8A Gene

SuperPathways for KLHDC8A Gene

No Data Available

Interacting Proteins for KLHDC8A Gene

Gene Ontology (GO) - Biological Process for KLHDC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHDC8A: view

No data available for Pathways by source and SIGNOR curated interactions for KLHDC8A Gene

Drugs & Compounds for KLHDC8A Gene

No Compound Related Data Available

Transcripts for KLHDC8A Gene

Unigene Clusters for KLHDC8A Gene

Kelch domain containing 8A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC8A Gene

No ASD Table

Relevant External Links for KLHDC8A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHDC8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHDC8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHDC8A Gene

This gene is overexpressed in Ovary (x29.5).

Protein differential expression in normal tissues from HIPED for KLHDC8A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHDC8A Gene

Protein tissue co-expression partners for KLHDC8A Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHDC8A Gene:


SOURCE GeneReport for Unigene cluster for KLHDC8A Gene:


Evidence on tissue expression from TISSUES for KLHDC8A Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KLHDC8A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC8A Gene

Orthologs for KLHDC8A Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHDC8A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHDC8A 34 35
  • 99.52 (n)
(Ornithorhynchus anatinus)
Mammalia KLHDC8A 35
  • 92 (a)
(Canis familiaris)
Mammalia KLHDC8A 34 35
  • 91.9 (n)
(Bos Taurus)
Mammalia KLHDC8A 34 35
  • 90.76 (n)
(Rattus norvegicus)
Mammalia Klhdc8a 34
  • 89.71 (n)
(Mus musculus)
Mammalia Klhdc8a 34 16 35
  • 89.14 (n)
(Monodelphis domestica)
Mammalia KLHDC8A 35
  • 89 (a)
(Gallus gallus)
Aves KLHDC8A 34 35
  • 79.33 (n)
(Anolis carolinensis)
Reptilia KLHDC8A 35
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8a 34
  • 68.1 (n)
Str.108 34
(Danio rerio)
Actinopterygii LOC794258 34
  • 60.73 (n)
  • 55 (a)
(Caenorhabditis elegans)
Secernentea C53A5.11 35
  • 16 (a)
C53A5.9 35
  • 13 (a)
C53A5.6 35
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
Species where no ortholog for KLHDC8A 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 KLHDC8A Gene

Gene Tree for KLHDC8A (if available)
Gene Tree for KLHDC8A (if available)

Paralogs for KLHDC8A Gene

Paralogs for KLHDC8A Gene

genes like me logo Genes that share paralogs with KLHDC8A: view

Variants for KLHDC8A Gene

Sequence variations from dbSNP and Humsavar for KLHDC8A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000218840 -- 205,354,620(+) GGTGG(A/G)AGCAC intron-variant
rs1000257355 -- 205,338,576(+) CGATC(A/G/T)TTCCA reference, synonymous-codon, stop-gained
rs1000350199 -- 205,338,256(+) GTGTC(C/T)CTTAT intron-variant
rs1000411588 -- 205,344,301(+) AGGAA(A/G)GAGAA intron-variant, utr-variant-5-prime
rs1000450132 -- 205,336,888(+) GAGGT(A/C)CAGGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KLHDC8A Gene

Variant ID Type Subtype PubMed ID
nsv832381 CNV gain 17160897
nsv946606 CNV duplication 23825009

Variation tolerance for KLHDC8A Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC8A Gene

Disorders for KLHDC8A Gene

Relevant External Links for KLHDC8A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for KLHDC8A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC8A Gene

Publications for KLHDC8A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. 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
  3. Mutant EGFR is required for maintenance of glioma growth in vivo, and its ablation leads to escape from receptor dependence. (PMID: 20133782) Mukasa A. … Furnari F. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 64
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64

Products for KLHDC8A Gene

Sources for KLHDC8A Gene

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