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] See more...

Aliases for KLHDC8A Gene

Aliases for KLHDC8A Gene

  • Kelch Domain Containing 8A 2 3 5
  • Substitute For Delta-EGFR Expression 1 3 4
  • Kelch Domain-Containing Protein 8A 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. Diseases associated with KLHDC8A include Zellweger Syndrome. An important paralog of this gene is KLHDC8B.

Additional gene information for KLHDC8A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHDC8A Gene

Genomics for KLHDC8A Gene

GeneHancer (GH) Regulatory Elements for KLHDC8A Gene

Promoters and enhancers for KLHDC8A 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
GH01J205354 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 518.3 +0.7 652 3.1 CTCF RFX1 RBM25 ZBTB17 POLR2A ZFHX2 IKZF1 PAX5 EGR1 ZNF664 KLHDC8A lnc-NUAK2-2 lnc-TMCC2-2
GH01J205358 Enhancer 0.3 dbSUPER 512.6 -1.9 -1860 0.5 SMARCA4 KLHDC8A MIR135B CDK18 LEMD1-AS1
GH01J205335 Enhancer 1.1 Ensembl ENCODE 24.5 +21.2 21190 1 ZNF217 CTCF TCF12 MYC ZNF10 ZIC2 TARDBP REST CHD1 CTBP1 KLHDC8A ENSG00000225063 TMCC2 CDK18 HSALNG0009937 SNRPGP10
GH01J205343 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 17.4 +13.1 13089 0.8 CTCF ZNF10 ZIC2 ZNF423 ZBTB26 TOE1 CTBP1 MXI1 ZNF341 EZH2 KLHDC8A NUAK2 LEMD1-AS1 CDK18 SNRPGP10 HSALNG0009937 lnc-NUAK2-2
GH01J205349 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.1 +6.3 6294 1.6 EP300 ZIC2 POLR2A MXI1 SMARCA4 SRF PKNOX1 MYC ZSCAN4 TSHZ1 SNRPGP10 lnc-TMCC2-2 KLHDC8A lnc-NUAK2-2 HSALNG0009937
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHDC8A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHDC8A

Top Transcription factor binding sites by QIAGEN in the KLHDC8A gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • HOXA9
  • HOXA9B
  • LyF-1
  • Meis-1
  • Meis-1b
  • Nkx2-2
  • Nkx6-1

Genomic Locations for KLHDC8A Gene

Genomic Locations for KLHDC8A Gene
chr1:205,336,065-205,357,090
(GRCh38/hg38)
Size:
21,026 bases
Orientation:
Minus strand
chr1:205,305,220-205,326,218
(GRCh37/hg19)
Size:
20,999 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

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

Gene Families for KLHDC8A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC8A Gene

Blocks:
  • Kelch repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC8A Gene

GenScript: Design optimal peptide antigens:
  • Kelch domain-containing protein 8A (KLD8A_HUMAN)
genes like me logo Genes that share domains with KLHDC8A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHDC8A Gene

Function for KLHDC8A Gene

Phenotypes From GWAS Catalog for KLHDC8A Gene

Gene Ontology (GO) - Molecular Function for KLHDC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
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

Clone 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

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 KLHDC8A gene
Compartment Confidence
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endoplasmic reticulum 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KLHDC8A Gene

Pathways & Interactions for KLHDC8A Gene

PathCards logo

SuperPathways for KLHDC8A Gene

No Data Available

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

mRNA/cDNA for KLHDC8A Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for KLHDC8A Gene

GeneLoc Exon Structure for
KLHDC8A

Expression for KLHDC8A Gene

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



Protein tissue co-expression partners for KLHDC8A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHDC8A

SOURCE GeneReport for Unigene cluster for KLHDC8A Gene:

Hs.10414

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

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
chimpanzee
(Pan troglodytes)
Mammalia KLHDC8A 31 30
  • 99.52 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC8A 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHDC8A 31 30
  • 91.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHDC8A 31 30
  • 90.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhdc8a 30
  • 89.71 (n)
mouse
(Mus musculus)
Mammalia Klhdc8a 17 31 30
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC8A 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC8A 31 30
  • 79.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHDC8A 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc8a 30
  • 68.1 (n)
Str.108 30
zebrafish
(Danio rerio)
Actinopterygii LOC794258 30
  • 60.73 (n)
KLHDC8A 31
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C53A5.11 31
  • 16 (a)
ManyToMany
C53A5.9 31
  • 13 (a)
ManyToMany
C53A5.6 31
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for KLHDC8A (if available)
TreeFam:
Gene Tree for KLHDC8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHDC8A: view image

Paralogs for KLHDC8A Gene

(9) SIMAP similar genes for KLHDC8A Gene using alignment to 8 proteins:

  • KLD8A_HUMAN
  • F5H5F1_HUMAN
  • U3KPW1_HUMAN
  • U3KPX9_HUMAN
  • U3KQC2_HUMAN
  • U3KQH1_HUMAN
  • U3KQI4_HUMAN
  • U3KQK4_HUMAN
genes like me logo Genes that share paralogs with KLHDC8A: view

Variants for KLHDC8A Gene

Additional dbSNP identifiers (rs#s) for KLHDC8A Gene

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)

Additional Variant Information for KLHDC8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHDC8A Gene

Disorders for KLHDC8A Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHDC8A Gene - From: DISEASES

Disorder Aliases PubMed IDs
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHDC8A

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

No data available for 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 DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M … Lindquist S (Cell 2014) 3 54
  5. 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 (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 54

Products for KLHDC8A Gene

Sources for KLHDC8A Gene