Aliases for KLHDC4 Gene

Aliases for KLHDC4 Gene

  • Kelch Domain Containing 4 2 3 5
  • Kelch Domain-Containing Protein 4 3 4
  • DKFZp434G0522 2
  • KLHDC4 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 and Noonan Syndrome 10. An important paralog of this gene is KLHDC10.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHDC4 Gene

Genomics for KLHDC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLHDC4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHDC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHDC4

Top Transcription factor binding sites by QIAGEN in the KLHDC4 gene promoter:
  • AML1a
  • FOXL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Hlf
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for KLHDC4 Gene

Latest Assembly
chr16:87,693,537-87,765,992
(GRCh38/hg38)
Size:
72,456 bases
Orientation:
Minus strand

Previous Assembly
chr16:87,741,418-87,799,592
(GRCh37/hg19 by Entrez Gene)
Size:
58,175 bases
Orientation:
Minus strand

chr16:87,730,091-87,799,598
(GRCh37/hg19 by Ensembl)
Size:
69,508 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 Lys252
  • 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:
  • Kelch
ProtoNet:

Suggested Antigen Peptide Sequences for KLHDC4 Gene

GenScript: Design optimal peptide antigens:
  • Kelch domain-containing protein 4 (KLDC4_HUMAN)
genes like me logo Genes that share domains with KLHDC4: view

No data available for Graphical View of Domain Structure and 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 IEA,IPI 21044950
genes like me logo Genes that share ontologies with KLHDC4: view
genes like me logo Genes that share phenotypes with KLHDC4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC4

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 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 0

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

PathCards logo

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

mRNA/cDNA for KLHDC4 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHDC4

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

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, MaxQB, and MOPED for KLHDC4 Gene



Protein tissue co-expression partners for KLHDC4 Gene

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

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 30 31
  • 98.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLHDC4 30 31
  • 82.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KLHDC4 30 31
  • 81.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Klhdc4 30 17 31
  • 80.35 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KLHDC4 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KLHDC4 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KLHDC4 30 31
  • 74.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KLHDC4 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia klhdc4 30
  • 68.53 (n)
LOC394683 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53395 30
Zebrafish
(Danio rerio)
Actinopterygii klhdc4 30 31
  • 68.33 (n)
OneToOne
wufb95f04 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005007 30
  • 52.51 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4069 30 31
  • 50.91 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL3 31 33
  • 24 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G50310 30
  • 50.51 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0483600 30
  • 48.89 (n)
Species where no ortholog for KLHDC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KLHDC4: view image

Paralogs for KLHDC4 Gene

Paralogs for KLHDC4 Gene

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

  • KLDC4_HUMAN
  • H3BP99_HUMAN
  • H3BQ90_HUMAN
  • H3BQH3_HUMAN
  • H3BQL0_HUMAN
  • H3BTB1_HUMAN
  • H3BUX8_HUMAN
  • H3BV82_HUMAN

Pseudogenes.org Pseudogenes for KLHDC4 Gene

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

Variants for KLHDC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHDC4 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs201540001 Benign: not provided 87,696,571(-) C/G
NM_020655.4(JPH3):c.2167-9C>G
INTRON
rs377052304 Likely Benign: not provided 87,696,624(-) C/T
NM_020655.4(JPH3):c.2211C>T (p.Ile737=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs2303771 - p.Thr102Ile
rs2303772 - p.Leu56Val
rs34779002 - p.Gly130Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLHDC4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KLHDC4 Gene

Human Gene Mutation Database (HGMD)
KLHDC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHDC4

SNP Genotyping and Copy Number Assays for research

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

Disorders for KLHDC4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLHDC4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
huntington disease-like 2
  • hdl2
noonan syndrome 10
  • ns10
noonan syndrome 9
  • ns9
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHDC4

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. The E3 ubiquitin ligase UBR5 interacts with the H/ACA ribonucleoprotein complex and regulates ribosomal RNA biogenesis in embryonic stem cells. (PMID: 31365120) Saez I … Vilchez D (FEBS letters 2020) 3
  4. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3

Products for KLHDC4 Gene

Sources for KLHDC4 Gene