Free for academic non-profit institutions. Other users need a Commercial license

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

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 GAN.

No data available for 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

Genomic Location for KLHDC8A Gene

Chromosome:
1
Start:
205,336,065 bp from pter
End:
205,357,090 bp from pter
Size:
21,026 bases
Orientation:
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:
    Q8IYD2-KLD8A_HUMAN
    Recommended name:
    Kelch domain-containing protein 8A
    Protein Accession:
    Q8IYD2
    Secondary Accessions:
    • B3KU70
    • Q9NVG5

    Protein attributes for KLHDC8A Gene

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

neXtProt entry for KLHDC8A Gene

Proteomics data for KLHDC8A Gene at MOPED

Post-translational modifications for KLHDC8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Q8IYD2

UniProtKB/Swiss-Prot:

KLD8A_HUMAN :
  • Contains 7 Kelch repeats.
Similarity:
  • Contains 7 Kelch repeats.
genes like me logo Genes that share domains with KLHDC8A: view

No data available for Gene Families 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

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

COMPARTMENTS
Jensen Localization Image for KLHDC8A Gene COMPARTMENTS Subcellular localization image for KLHDC8A gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

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:

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

No ASD Table

Relevant External Links for KLHDC8A Gene

GeneLoc Exon Structure for
KLHDC8A
ECgene alternative splicing isoforms for
KLHDC8A

Expression for KLHDC8A Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for KLHDC8A Gene Hs.10414

genes like me logo Genes that share expression patterns with KLHDC8A: view

Protein tissue co-expression partners for KLHDC8A Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KLHDC8A 35
  • 90.76 (n)
  • 95.71 (a)
KLHDC8A 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC8A 35
  • 91.9 (n)
  • 94.86 (a)
KLHDC8A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc8a 35
  • 89.14 (n)
  • 95.71 (a)
Klhdc8a 16
Klhdc8a 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHDC8A 35
  • 99.52 (n)
  • 100 (a)
KLHDC8A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc8a 35
  • 89.71 (n)
  • 95.71 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHDC8A 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC8A 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC8A 35
  • 79.33 (n)
  • 84.57 (a)
KLHDC8A 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC8A 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8a 35
  • 68.1 (n)
  • 74.21 (a)
Str.108 35
zebrafish
(Danio rerio)
Actinopterygii LOC794258 35
  • 60.73 (n)
  • 56.03 (a)
KLHDC8A 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C53A5.11 36
  • 16 (a)
ManyToMany
C53A5.6 36
  • 12 (a)
ManyToMany
C53A5.9 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
Species with no ortholog for KLHDC8A:
  • 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

ENSEMBL:
Gene Tree for KLHDC8A (if available)
TreeFam:
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
rs913722 -- 205,349,855(-) TGGAG(A/G)TCATA intron-variant
rs913723 -- 205,349,726(-) TTTCA(A/G)GTTTC intron-variant
rs1105385 -- 205,339,207(+) ATGTC(A/G)AACAC reference, synonymous-codon
rs1105386 -- 205,339,219(+) TCCAT(A/C/G/T)GTCCG reference, synonymous-codon
rs1105387 -- 205,339,240(+) GGCTG(C/T)CGGTA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv832381 CNV Gain 17160897
nsv873113 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
KLHDC8A

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:
KLHDC8A

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. 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 67
  2. 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
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KLHDC8A Gene

Sources for KLHDC8A Gene

Back to Top

Content