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Aliases for KLHL4 Gene

Aliases for KLHL4 Gene

  • Kelch Like Family Member 4 2 3 5
  • Kelch-Like Family Member 4 3
  • Kelch (Drosophila)-Like 4 2
  • Kelch-Like 4 (Drosophila) 2
  • KIAA1687 4
  • KHL4 3

External Ids for KLHL4 Gene

Previous GeneCards Identifiers for KLHL4 Gene

  • GC0XP082152
  • GC0XP083849
  • GC0XP084808
  • GC0XP085544
  • GC0XP086578
  • GC0XP086772
  • GC0XP080353

Summaries for KLHL4 Gene

Entrez Gene Summary for KLHL4 Gene

  • This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLHL4 Gene

KLHL4 (Kelch Like Family Member 4) is a Protein Coding gene. Diseases associated with KLHL4 include X-Linked Cleft Palate And Ankyloglossia and Mullerian Aplasia. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL5.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL4 Gene

Genomics for KLHL4 Gene

Regulatory Elements for KLHL4 Gene

Enhancers for KLHL4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KLHL4 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL4 Gene

87,517,541 bp from pter
87,670,050 bp from pter
152,510 bases
Plus strand

Genomic View for KLHL4 Gene

Genes around KLHL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL4 Gene

Proteins for KLHL4 Gene

  • Protein details for KLHL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kelch-like protein 4
    Protein Accession:
    Secondary Accessions:
    • B2RTW2
    • Q9Y3J5

    Protein attributes for KLHL4 Gene

    718 amino acids
    Molecular mass:
    80245 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB14199.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21778.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL4 Gene


neXtProt entry for KLHL4 Gene

Proteomics data for KLHL4 Gene at MOPED

Post-translational modifications for KLHL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL4 Gene

Domains & Families for KLHL4 Gene

Gene Families for KLHL4 Gene

Protein Domains for KLHL4 Gene

Suggested Antigen Peptide Sequences for KLHL4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL4: view

Function for KLHL4 Gene

Gene Ontology (GO) - Molecular Function for KLHL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL4: view
genes like me logo Genes that share phenotypes with KLHL4: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL4 Gene

Localization for KLHL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL4 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for KLHL4 Gene COMPARTMENTS Subcellular localization image for KLHL4 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for KLHL4 Gene

Pathways & Interactions for KLHL4 Gene

SuperPathways for KLHL4 Gene

No Data Available

Interacting Proteins for KLHL4 Gene

Gene Ontology (GO) - Biological Process for KLHL4 Gene


No data available for Pathways by source and SIGNOR curated interactions for KLHL4 Gene

Drugs & Compounds for KLHL4 Gene

No Compound Related Data Available

Transcripts for KLHL4 Gene

mRNA/cDNA for KLHL4 Gene

Unigene Clusters for KLHL4 Gene

Kelch-like family member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL4 Gene

No ASD Table

Relevant External Links for KLHL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KLHL4 Gene

mRNA expression in normal human tissues for KLHL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL4 Gene

This gene is overexpressed in Adrenal Gland (x13.5) and Brain - Spinal cord (cervical c-1) (x5.9).

Protein differential expression in normal tissues from HIPED for KLHL4 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (46.5), Heart (8.5), and Testis (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL4 Gene

SOURCE GeneReport for Unigene cluster for KLHL4 Gene Hs.49075

mRNA Expression by UniProt/SwissProt for KLHL4 Gene

Tissue specificity: Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.
genes like me logo Genes that share expression patterns with KLHL4: view

Protein tissue co-expression partners for KLHL4 Gene

Primer Products

Orthologs for KLHL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia KLHL4 35
  • 90.49 (n)
  • 89.47 (a)
KLHL4 36
  • 91 (a)
(Mus musculus)
Mammalia Klhl4 35
  • 86 (n)
  • 88.61 (a)
Klhl4 16
Klhl4 36
  • 86 (a)
(Pan troglodytes)
Mammalia KLHL4 35
  • 95.6 (n)
  • 95.08 (a)
KLHL4 36
  • 95 (a)
(Rattus norvegicus)
Mammalia Klhl4 35
  • 87.34 (n)
  • 89.53 (a)
(Monodelphis domestica)
Mammalia KLHL4 36
  • 82 (a)
(Gallus gallus)
Aves KLHL4 35
  • 77.44 (n)
  • 83.29 (a)
KLHL4 36
  • 81 (a)
(Anolis carolinensis)
Reptilia KLHL4 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl4 35
  • 75.36 (n)
  • 81.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15097 37
  • 39 (a)
CG17754 37
  • 57 (a)
CG1812 37
  • 27 (a)
CG3571 37
  • 38 (a)
CG17754 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea T27E9.4a 37
  • 31 (a)
T27E9.4b 37
  • 32 (a)
W02G9.2 37
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
Species with no ortholog for KLHL4:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for KLHL4 Gene

Gene Tree for KLHL4 (if available)
Gene Tree for KLHL4 (if available)

Paralogs for KLHL4 Gene

genes like me logo Genes that share paralogs with KLHL4: view

Variants for KLHL4 Gene

Sequence variations from dbSNP and Humsavar for KLHL4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs747681465 -- 87,603,466(+) ATACT(A/C)TTAGG intron-variant
rs747689936 -- 87,615,514(+) CCACA(C/T)AACAG intron-variant
rs747698947 -- 87,601,989(+) ATATG(G/T)TTTCA intron-variant
rs747699148 -- 87,542,919(+) TCTCA(C/T)CTGGA intron-variant
rs747711791 -- 87,555,803(+) TAATT(A/G)TGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL4 Gene

Variant ID Type Subtype PubMed ID
nsv526412 CNV Gain 19592680
nsv520176 CNV Gain 19592680
nsv520266 CNV Gain 19592680
nsv521499 CNV Gain 19592680
nsv6989 CNV Insertion 18451855

Variation tolerance for KLHL4 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.29% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KLHL4 Gene

Disorders for KLHL4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KLHL4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
x-linked cleft palate and ankyloglossia
mullerian aplasia
  • aplasia of the müllerian ducts
- elite association - COSMIC cancer census association via MalaCards
Search KLHL4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLHL4

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KLHL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL4 Gene

Publications for KLHL4 Gene

  1. Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region. (PMID: 11401425) Braybrook C. … Stanier P. (Genomics 2001) 2 3 4 67
  2. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3
  3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  5. Genomic imbalances associated with mullerian aplasia. (PMID: 18039948) Cheroki C. … Rosenberg C. (J. Med. Genet. 2008) 3

Products for KLHL4 Gene

Sources for KLHL4 Gene