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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

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
GH16F087700 1 Ensembl ENCODE 29.3 +63.5 63523 3.2 CTCF KLF1 USF1 EBF1 ZIC2 RAD21 RELA ZNF121 ZFHX2 POLR2A KLHDC4 LOC100129215 LOC105371397
GH16F087722 0.9 FANTOM5 ENCODE 26.6 +41.6 41633 3.4 HDAC1 PKNOX1 CBX3 INSM2 KLF17 SIN3A FEZF1 GATA2 ZNF366 SCRT2 KLHDC4 ENSG00000260671 LOC100129215 ENSG00000260121 C16orf95 ENSG00000260466 JPH3 FBXO31 ZCCHC14 LOC105371397
GH16F087864 1.1 FANTOM5 ENCODE 13.1 -103.4 -103372 8.8 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 KLHDC4 TRAPPC2L LOC100289580 CA5A BANP ZCCHC14 MAP1LC3B FBXO31 SLC7A5 PIR45032
GH16F087728 0.2 ENCODE 12.3 +37.7 37728 0.2 CEBPB KDM1A NR2F6 KLHDC4 LOC100129215 ENSG00000260671 LOC105371397
GH16F087815 1.3 Ensembl ENCODE 11.5 -49.8 -49804 0.4 ELF3 ARID4B THRB ZNF48 ZSCAN9 RAD21 RARA ZNF143 KLF11 MXD4 KLHDC4 ENSG00000260177 MIR6775
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001507380 97 1801 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 KLF13

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 Lys 252
  • Modification sites at PhosphoSitePlus

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

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

Inhibitory RNA Products

Flow Cytometry 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
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

Transcripts for KLHDC4 Gene

Unigene Clusters for KLHDC4 Gene

Kelch domain containing 4:
Representative Sequences:

Inhibitory RNA Products

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

Primer 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 34 35
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia KLHDC4 34 35
  • 82.54 (n)
dog
(Canis familiaris)
Mammalia KLHDC4 34 35
  • 81.9 (n)
mouse
(Mus musculus)
Mammalia Klhdc4 34 16 35
  • 80.35 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHDC4 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC4 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHDC4 34 35
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia KLHDC4 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhdc4 34
  • 68.53 (n)
LOC394683 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53395 34
zebrafish
(Danio rerio)
Actinopterygii klhdc4 34 35
  • 68.33 (n)
wufb95f04 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005007 34
  • 52.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4069 34 35
  • 50.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL3 35 37
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50310 34
  • 50.51 (n)
rice
(Oryza sativa)
Liliopsida Os04g0483600 34
  • 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
rs1014628 -- 87,720,932(+) GAACC(G/T)GGTCA intron-variant
rs1019797 -- 87,755,080(+) GCGAT(C/G)TACAG intron-variant
rs1035943 -- 87,721,581(-) TGGCC(A/C)CTGAG intron-variant
rs10564296 -- 87,744,582(+) TCTCA(A/G)AAAAA intron-variant
rs10625440 -- 87,744,989(+) ACGCG(-/CAG/GCA)GTGCA 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

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: 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 64
  2. 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 64
  3. Upregulation of KLHDC4 Predicts a Poor Prognosis in Human Nasopharyngeal Carcinoma. (PMID: 27030985) Lian Y.F. … Feng L. (PLoS ONE 2016) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for KLHDC4 Gene

Sources for KLHDC4 Gene

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