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Aliases for KLHDC7A Gene

Aliases for KLHDC7A Gene

  • Kelch Domain Containing 7A 2 3 5

External Ids for KLHDC7A Gene

Previous GeneCards Identifiers for KLHDC7A Gene

  • GC01P018554
  • GC01P018680
  • GC01P018807
  • GC01P017055

Summaries for KLHDC7A Gene

GeneCards Summary for KLHDC7A Gene

KLHDC7A (Kelch Domain Containing 7A) is a Protein Coding gene. An important paralog of this gene is KBTBD11.

Additional gene information for KLHDC7A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC7A Gene

Genomics for KLHDC7A Gene

GeneHancer (GH) Regulatory Elements for KLHDC7A Gene

Promoters and enhancers for KLHDC7A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I018479 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 589 -0.3 -302 2.7 ATF1 ARID4B SIN3A RAD21 ZSCAN9 YY1 ZNF143 FOS ATF7 MIXL1 KLHDC7A ENSG00000225387
GH01I018463 Enhancer 0.8 ENCODE 11.9 -16.5 -16495 2 FOXA2 ARID4B SIN3A RARA YY1 HSF1 RCOR1 THAP11 RXRA SP5 KLHDC7A ENSG00000225387
GH01I018416 Enhancer 0.7 ENCODE 5.5 -62.2 -62167 3.9 CTCF GTF2E2 BACH1 CEBPG ZBTB40 ZNF766 FOS ZNF639 ZBTB11 CEBPB KLHDC7A ENSG00000272084 ENSG00000225387
GH01I018414 Enhancer 0.6 ENCODE 0.2 -66.8 -66828 0.2 SP3 KLF17 ZEB2 ZNF335 GLIS2 JUND ZNF366 GLIS1 ZNF600 FOS ENSG00000272084 ENSG00000225387 KLHDC7A
GH01I018410 Enhancer 0.5 ENCODE 0.2 -70.4 -70385 0.8 USF1 POLR2A ZFP36 ZMYM3 ZKSCAN1 ENSG00000272084 ENSG00000225387 KLHDC7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHDC7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHDC7A gene promoter:

Genomic Locations for KLHDC7A Gene

Genomic Locations for KLHDC7A Gene
5,197 bases
Plus strand

Genomic View for KLHDC7A Gene

Genes around KLHDC7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC7A Gene

Proteins for KLHDC7A Gene

  • Protein details for KLHDC7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch domain-containing protein 7A
    Protein Accession:
    Secondary Accessions:
    • Q8N8W6

    Protein attributes for KLHDC7A Gene

    777 amino acids
    Molecular mass:
    84479 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04695.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH73690.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHDC7A Gene

Post-translational modifications for KLHDC7A Gene

  • Glycosylation at isoforms=257
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHDC7A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHDC7A Gene

Domains & Families for KLHDC7A Gene

Gene Families for KLHDC7A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHDC7A Gene

Suggested Antigen Peptide Sequences for KLHDC7A Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHDC7A: view

No data available for UniProtKB/Swiss-Prot for KLHDC7A Gene

Function for KLHDC7A Gene

Phenotypes From GWAS Catalog for KLHDC7A Gene

Gene Ontology (GO) - Molecular Function for KLHDC7A 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 KLHDC7A: view

Phenotypes for KLHDC7A Gene

GenomeRNAi human phenotypes for KLHDC7A:
genes like me logo Genes that share phenotypes with KLHDC7A: view

Animal Model Products

CRISPR Products

miRNA for KLHDC7A Gene

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 KLHDC7A Gene

Localization for KLHDC7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHDC7A Gene

Membrane; Single-pass membrane protein.

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 KLHDC7A gene
Compartment Confidence
extracellular 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHDC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHDC7A: view

Pathways & Interactions for KLHDC7A Gene

SuperPathways for KLHDC7A Gene

No Data Available

Interacting Proteins for KLHDC7A Gene

Gene Ontology (GO) - Biological Process for KLHDC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHDC7A: view

No data available for Pathways by source and SIGNOR curated interactions for KLHDC7A Gene

Drugs & Compounds for KLHDC7A Gene

No Compound Related Data Available

Transcripts for KLHDC7A Gene

mRNA/cDNA for KLHDC7A Gene

(1) REFSEQ mRNAs :
(18) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC7A Gene

No ASD Table

Relevant External Links for KLHDC7A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHDC7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHDC7A Gene

mRNA differential expression in normal tissues according to GTEx for KLHDC7A Gene

This gene is overexpressed in Kidney - Cortex (x23.2) and Liver (x5.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHDC7A Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHDC7A Gene:


SOURCE GeneReport for Unigene cluster for KLHDC7A Gene:


Evidence on tissue expression from TISSUES for KLHDC7A Gene

  • Kidney(4.2)
  • Liver(4)
genes like me logo Genes that share expression patterns with KLHDC7A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHDC7A Gene

Orthologs for KLHDC7A Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHDC7A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHDC7A 33 34
  • 98.24 (n)
(Canis familiaris)
Mammalia KLHDC7A 33 34
  • 79.62 (n)
(Bos Taurus)
Mammalia KLHDC7A 33 34
  • 78.69 (n)
(Rattus norvegicus)
Mammalia Klhdc7a 33
  • 77.42 (n)
(Mus musculus)
Mammalia Klhdc7a 33 16 34
  • 76.51 (n)
(Monodelphis domestica)
Mammalia KLHDC7A 34
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia KLHDC7A 34
  • 50 (a)
(Gallus gallus)
Aves KLHDC7A 33 34
  • 57.6 (n)
(Anolis carolinensis)
Reptilia KLHDC7A 34
  • 45 (a)
(Danio rerio)
Actinopterygii LOC799728 33
  • 50.51 (n)
Species where no ortholog for KLHDC7A 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHDC7A Gene

Gene Tree for KLHDC7A (if available)
Gene Tree for KLHDC7A (if available)

Paralogs for KLHDC7A Gene

Paralogs for KLHDC7A Gene

(1) SIMAP similar genes for KLHDC7A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KLHDC7A: view

Variants for KLHDC7A Gene

Sequence variations from dbSNP and Humsavar for KLHDC7A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000019759 -- 18,480,349(+) C/T upstream_transcript_variant
rs1000104976 -- 18,480,050(+) C/G upstream_transcript_variant
rs1000984564 -- 18,485,444(+) G/C 3_prime_UTR_variant
rs1001055590 -- 18,484,763(+) A/G 3_prime_UTR_variant
rs1002437734 -- 18,480,476(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC7A Gene

Variant ID Type Subtype PubMed ID
nsv545717 CNV loss 21841781
nsv834336 CNV loss 17160897

Variation tolerance for KLHDC7A Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.27; 96.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHDC7A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC7A Gene

Disorders for KLHDC7A Gene

Additional Disease Information for KLHDC7A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KLHDC7A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHDC7A Gene

Publications for KLHDC7A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  4. Genome-wide meta-analysis for severe diabetic retinopathy. (PMID: 21441570) Grassi MA … Nicolae DL (Human molecular genetics 2011) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for KLHDC7A Gene

Sources for KLHDC7A Gene

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