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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.

Additional gene information for KLHDC4 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 KLHDC4 Gene

Genomics for KLHDC4 Gene

Regulatory Elements for KLHDC4 Gene

Enhancers for KLHDC4 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
GH16H087722 1.6 FANTOM5 ENCODE dbSUPER 26.6 +41.6 41633 3 PKNOX1 SIN3A FEZF1 GATA2 ZNF548 RUNX3 TSHZ1 ZNF488 REST ZNF592 KLHDC4 ENSG00000260671 LOC100129215 ENSG00000260121 ZC3H18 C16orf95 ENSG00000260466 JPH3 FBXO31 ZCCHC14
GH16H087864 1.8 FANTOM5 ENCODE dbSUPER 21.7 -103.4 -103372 8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZC3H18 BANP KLHDC4 ZCCHC14 CTU2 TRAPPC2L CA5A MAP1LC3B FBXO31 SLC7A5
GH16H087700 1.3 Ensembl ENCODE dbSUPER 29.3 +63.5 63523 3 CTCF KLF1 TBL1XR1 EBF1 RAD21 RELA ZFHX2 POLR2A EED SMC3 KLHDC4 LOC100129215 LOC105371397
GH16H088442 1.5 Ensembl ENCODE dbSUPER 17.3 -677.1 -677146 2 HDGF ARID4B SIN3A ZNF2 ZBTB7B GLIS2 ZNF143 ZNF207 RUNX3 DEK ZC3H18 KLHDC4 GALNS ENSG00000259877 LOC100289580 ZNF469 TRAPPC2L CTU2 BANP ENSG00000260121
GH16H088329 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -566.9 -566860 6 HDGF PKNOX1 ARNT SIN3A YBX1 ZBTB7B ZNF766 ZNF207 FOS MCM3 ACSF3 ZC3H18 ENSG00000259877 BANP ENSG00000268218 ENSG00000260121 GALNS PIEZO1 ZCCHC14 ZNF778
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHDC4 on UCSC Golden Path with GeneCards custom track

Promoters for KLHDC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089367 97 1401 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SP3

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

Post-translational modifications for KLHDC4 Gene

  • Ubiquitination at isoforms=2, 3252
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHDC4 Gene

Domains & Families for KLHDC4 Gene

Gene Families for KLHDC4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

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

Function for KLHDC4 Gene

Phenotypes From GWAS Catalog for KLHDC4 Gene

Gene Ontology (GO) - Molecular Function for KLHDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with KLHDC4: view

Phenotypes for KLHDC4 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHDC4 Gene

Localization for KLHDC4 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 KLHDC4 gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KLHDC4 Gene



Protein tissue co-expression partners for KLHDC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHDC4 Gene:

KLHDC4

SOURCE GeneReport for Unigene cluster for KLHDC4 Gene:

Hs.123450

Evidence on tissue expression from TISSUES for KLHDC4 Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with KLHDC4: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia KLHDC4 33 34
  • 82.54 (n)
dog
(Canis familiaris)
Mammalia KLHDC4 33 34
  • 81.9 (n)
mouse
(Mus musculus)
Mammalia Klhdc4 33 16 34
  • 80.35 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC4 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC4 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC4 33 34
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC4 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc4 33
  • 68.53 (n)
LOC394683 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53395 33
zebrafish
(Danio rerio)
Actinopterygii klhdc4 33 34
  • 68.33 (n)
wufb95f04 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005007 33
  • 52.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4069 33 34
  • 50.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL3 34 36
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50310 33
  • 50.51 (n)
rice
(Oryza sativa)
Liliopsida Os04g0483600 33
  • 48.89 (n)
Species where no ortholog for KLHDC4 was found in the sources mined by GeneCards:
  • 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
rs1000046087 -- 87,721,009(+) GGCAC(C/T)TTCCC intron-variant
rs1000046866 -- 87,743,394(+) CCGGC(A/C)TGGAC intron-variant
rs1000071636 -- 87,716,101(+) CTGAC(A/G/T)TAGAC intron-variant
rs1000090459 -- 87,705,377(+) ACGGT(C/T)CCACA intron-variant
rs1000095938 -- 87,727,096(+) TGGCC(C/G)CTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3062n100 CNV loss 25217958
dgv504n67 CNV gain 20364138
esv1006084 CNV deletion 20482838
esv1228666 CNV deletion 17803354
esv1374631 CNV deletion 17803354
esv1590350 CNV deletion 17803354
esv2657033 CNV deletion 23128226
esv2674128 CNV deletion 23128226
esv2714934 CNV deletion 23290073
esv2714935 CNV deletion 23290073
esv2761934 CNV loss 21179565
esv28345 CNV gain+loss 19812545
esv3639524 CNV loss 21293372
esv3639525 CNV loss 21293372
esv3639526 CNV gain 21293372
esv3639527 CNV loss 21293372
esv3822 CNV loss 18987735
esv3892934 CNV loss 25118596
esv993111 CNV deletion 20482838
nsv1061977 CNV loss 25217958
nsv1062946 CNV gain 25217958
nsv1126439 CNV deletion 24896259
nsv1160441 CNV deletion 26073780
nsv457616 CNV gain 19166990
nsv471945 CNV novel sequence insertion 20440878
nsv573535 CNV loss 21841781
nsv573536 CNV gain 21841781
nsv573537 CNV loss 21841781
nsv573538 CNV loss 21841781
nsv833322 CNV loss 17160897
nsv952065 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
KLHDC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and 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 JV … Mann M (Cell 2006) 3 4 60
  2. 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 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Upregulation of KLHDC4 Predicts a Poor Prognosis in Human Nasopharyngeal Carcinoma. (PMID: 27030985) Lian YF … Feng L (PloS one 2016) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for KLHDC4 Gene

Sources for KLHDC4 Gene

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