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Aliases for KLHL4 Gene

Aliases for KLHL4 Gene

  • Kelch-Like Family Member 4 2 3
  • Kelch (Drosophila)-Like 4 2
  • Kelch-Like 4 (Drosophila) 2
  • Kelch-Like Protein 4 3
  • 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 mullerian aplasia and x-linked cleft palate and ankyloglossia. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL10.

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

Genomic Location for KLHL4 Gene

87,517,712 bp from pter
87,670,050 bp from pter
152,339 bases
Plus strand

Genomic View for KLHL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

Antibody Products

No data available for DME Specific Peptides for KLHL4 Gene

Domains for KLHL4 Gene

Gene Families 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:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHL4: view

Animal Model Products

miRNA for KLHL4 Gene

miRTarBase miRNAs that target KLHL4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
nucleus 4
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KLHL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with KLHL4: view

Pathways for KLHL4 Gene

SuperPathways for KLHL4 Gene

No Data Available

Interacting Proteins for KLHL4 Gene

Gene Ontology (GO) - Biological Process for KLHL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with KLHL4: view

No data available for Pathways by source for KLHL4 Gene

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 (13.5) and Brain - Spinal cord (cervical c-1) (5.9).

Protein differential expression in normal tissues 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 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 expressions with KLHL4: view

Expression partners for KLHL4 Gene

* - Elite partner

Primer Products

In Situ Assay 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 MAF
rs143635 -- 87,621,865(-) TGTCT(A/G)GTTGG intron-variant
rs222063 -- 87,621,515(-) AGAGT(A/G)AAGCT intron-variant
rs222064 -- 87,622,734(-) AGAAG(G/T)TGTGC intron-variant
rs222065 -- 87,622,753(-) AATTA(C/T)TAACA intron-variant
rs222066 -- 87,623,208(-) AAGTG(A/G)ATTCA 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

Relevant External Links for KLHL4 Gene

HapMap Linkage Disequilibrium report
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL4 Gene

Disorders for KLHL4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for KLHL4 Gene in MalaCards »

(2) Diseases for KLHL4 Gene

(1) University of Copenhagen DISEASES for KLHL4 Gene

Relevant External Links for KLHL4

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with KLHL4: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships 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
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for KLHL4 Gene

Sources for KLHL4 Gene

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