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Aliases for KLHDC4 Gene

Aliases for KLHDC4 Gene

  • Kelch Domain Containing 4 2 3 5

External Ids for KLHDC4 Gene

Previous GeneCards Identifiers for KLHDC4 Gene

  • GC00U916984
  • GC16M086298
  • GC16M087741
  • GC16M073482

Summaries for KLHDC4 Gene

GeneCards Summary for KLHDC4 Gene

KLHDC4 (Kelch Domain Containing 4) is a Protein Coding gene. Diseases associated with KLHDC4 include huntington disease-like 2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHDC4 Gene

Genomics for KLHDC4 Gene

Regulatory Elements for KLHDC4 Gene

Promoters for KLHDC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHDC4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHDC4 Gene

Chromosome:
16
Start:
87,696,485 bp from pter
End:
87,765,997 bp from pter
Size:
69,513 bases
Orientation:
Minus strand

Genomic View for KLHDC4 Gene

Genes around KLHDC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHDC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHDC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHDC4 Gene

Proteins for KLHDC4 Gene

  • Protein details for KLHDC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBB5-KLDC4_HUMAN
    Recommended name:
    Kelch domain-containing protein 4
    Protein Accession:
    Q8TBB5
    Secondary Accessions:
    • D3DUN3
    • D3DUN4
    • D3DUN5
    • Q96F29
    • Q9BVN3

    Protein attributes for KLHDC4 Gene

    Size:
    520 amino acids
    Molecular mass:
    57892 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KLHDC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHDC4 Gene

Proteomics data for KLHDC4 Gene at MOPED

Post-translational modifications for KLHDC4 Gene

  • Ubiquitination at Lys 252
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for KLHDC4 Gene

Domains & Families for KLHDC4 Gene

Protein Domains for KLHDC4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBB5

UniProtKB/Swiss-Prot:

KLDC4_HUMAN :
  • Contains 6 Kelch repeats.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHDC4: view

No data available for Gene Families for KLHDC4 Gene

Function for KLHDC4 Gene

Phenotypes for KLHDC4 Gene

GenomeRNAi human phenotypes for KLHDC4:
genes like me logo Genes that share phenotypes with KLHDC4: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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 KLHDC4 Gene

Localization for KLHDC4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHDC4 Gene COMPARTMENTS Subcellular localization image for KLHDC4 gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KLHDC4 Gene

Pathways & Interactions for KLHDC4 Gene

SuperPathways for KLHDC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHDC4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHDC4 Gene

Drugs & Compounds for KLHDC4 Gene

No Compound Related Data Available

Transcripts for KLHDC4 Gene

Unigene Clusters for KLHDC4 Gene

Kelch domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHDC4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - -
SP5: - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - -
SP14: - - - - - -
SP15: - - - - - - - -
SP16: - -
SP17: - - - - - - -
SP18: - - - - -
SP19: - - - - - - - - - - - - - -
SP20: - - - - - - -
SP21:
SP22: - - - -
SP23:
SP24:

ExUns: 11c · 11d · 11e ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18
SP1: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11: - -
SP12: - - - -
SP13:
SP14:
SP15: -
SP16: - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - -

Relevant External Links for KLHDC4 Gene

GeneLoc Exon Structure for
KLHDC4
ECgene alternative splicing isoforms for
KLHDC4

Expression for KLHDC4 Gene

mRNA expression in normal human tissues for KLHDC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHDC4 Gene

This gene is overexpressed in Frontal cortex (41.1) and Lung (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHDC4 Gene



SOURCE GeneReport for Unigene cluster for KLHDC4 Gene Hs.123450

genes like me logo Genes that share expression patterns with KLHDC4: view

Protein tissue co-expression partners for KLHDC4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLHDC4 Gene

Orthologs for KLHDC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KLHDC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHDC4 35
  • 98.85 (n)
  • 98.27 (a)
KLHDC4 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLHDC4 36
  • 72 (a)
OneToOne
KLHDC4 35
  • 82.54 (n)
  • 83.02 (a)
dog
(Canis familiaris)
Mammalia KLHDC4 35
  • 81.9 (n)
  • 81.46 (a)
KLHDC4 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhdc4 36
  • 71 (a)
OneToOne
Klhdc4 16
Klhdc4 35
  • 80.35 (n)
  • 80.28 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHDC4 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC4 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC4 36
  • 67 (a)
OneToOne
KLHDC4 35
  • 74.01 (n)
  • 76.19 (a)
lizard
(Anolis carolinensis)
Reptilia KLHDC4 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53395 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc4 35
  • 68.53 (n)
  • 73.05 (a)
LOC394683 35
zebrafish
(Danio rerio)
Actinopterygii klhdc4 35
  • 68.33 (n)
  • 71.86 (a)
wufb95f04 35
klhdc4 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005007 35
  • 52.51 (n)
  • 42.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4069 35
  • 50.91 (n)
  • 42.01 (a)
CG4069 36
  • 39 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL3 36
  • 24 (a)
OneToOne
KEL3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50310 35
  • 50.51 (n)
  • 41.07 (a)
rice
(Oryza sativa)
Liliopsida Os04g0483600 35
  • 48.89 (n)
  • 41.25 (a)
Species with no ortholog for KLHDC4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHDC4 Gene

ENSEMBL:
Gene Tree for KLHDC4 (if available)
TreeFam:
Gene Tree for KLHDC4 (if available)

Paralogs for KLHDC4 Gene

(1) SIMAP similar genes for KLHDC4 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for KLHDC4 Gene

genes like me logo Genes that share paralogs with KLHDC4: view

No data available for Paralogs for KLHDC4 Gene

Variants for KLHDC4 Gene

Sequence variations from dbSNP and Humsavar for KLHDC4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs2303772 - 87,761,974(+) CGGAA(C/G)TTCCA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3751727 - 87,748,716(+) CCAGA(C/G)ATCCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs2303771 - 87,755,258(+) TTCTG(A/G)TATTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34779002 - 87,748,790(-) TCAAG(A/G/T)TGGCG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1808550 -- 87,759,475(+) ggtac(A/G)gtggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHDC4 Gene

Variant ID Type Subtype PubMed ID
nsv907153 CNV Loss 21882294
dgv2953n71 CNV Loss 21882294
dgv2954n71 CNV Loss 21882294
dgv2955n71 CNV Loss 21882294
nsv907177 CNV Loss 21882294
nsv907182 CNV Loss 21882294
dgv2956n71 CNV Loss 21882294
dgv2957n71 CNV Loss 21882294
dgv504n67 CNV Gain 20364138
nsv457616 CNV Gain 19166990
nsv833322 CNV Loss 17160897
esv28345 CNV Gain+Loss 19812545
esv993111 CNV Deletion 20482838
esv1590350 CNV Deletion 17803354
esv1006084 CNV Deletion 20482838
esv1228666 CNV Deletion 17803354
esv2714934 CNV Deletion 23290073
esv3822 CNV Deletion 18987735
esv2714935 CNV Deletion 23290073
esv2657033 CNV Deletion 23128226
esv1374631 CNV Deletion 17803354
esv2674128 CNV Deletion 23128226
nsv907194 CNV Loss 21882294

Variation tolerance for KLHDC4 Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.45; 82.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHDC4 Gene

HapMap Linkage Disequilibrium report
KLHDC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHDC4 Gene

Disorders for KLHDC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHDC4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
huntington disease-like 2
  • hdl2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KLHDC4

Genetic Association Database (GAD)
KLHDC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHDC4
genes like me logo Genes that share disorders with KLHDC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHDC4 Gene

Publications for KLHDC4 Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3

Products for KLHDC4 Gene

Sources for KLHDC4 Gene

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