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Aliases for KLHL4 Gene

Aliases for KLHL4 Gene

  • Kelch Like Family Member 4 2 3 5
  • 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 Orofacial Cleft. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is KLHL1.

Additional gene information for KLHL4 Gene

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

Genomics for KLHL4 Gene

GeneHancer (GH) Regulatory Elements for KLHL4 Gene

Promoters and enhancers for KLHL4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI087515 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.1 131 4 MEIS2 JUN CHD4 SIN3A POLR2A FOSL2 ATF7 EZH2 EGR2 REST KLHL4 PIR41748
GH0XI087408 Enhancer 0.9 Ensembl ENCODE 9.2 -107.9 -107904 2.3 MEIS2 ESRRA PKNOX1 NFIB JUN FOSL1 GATA3 FOSL2 FOS ATF7 KLHL4 ENSG00000230478 GC0XP087301
GH0XI087525 Enhancer 0.7 ENCODE 5.5 +8.5 8527 1.5 JUN DACH1 MAFG CEBPB DPF2 EP300 SP1 FOSL1 JUND ZNF316 KLHL4 PIR41748
GH0XI087678 Enhancer 0.4 ENCODE 6.4 +163.4 163364 3.9 SP1 POU5F1 KLHL4 RPSAP15 PIR31318
GH0XI087627 Enhancer 0.2 ENCODE 0.1 +109.7 109675 0.2 PIR31318 PIR41748 KLHL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL4 gene promoter:

Genomic Locations for KLHL4 Gene

Genomic Locations for KLHL4 Gene
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

Post-translational modifications for KLHL4 Gene

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for KLHL4 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for KLHL4 Gene

Phenotypes From GWAS Catalog 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

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 KLHL4 Gene

Localization for KLHL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL4 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

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 KLHL4 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005815 microtubule organizing center IDA --
GO:0005856 cytoskeleton IEA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHL4: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHL4: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KLHL4 Gene

Protein tissue co-expression partners for KLHL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL4 Gene:


SOURCE GeneReport for Unigene cluster for KLHL4 Gene:


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.

Evidence on tissue expression from TISSUES for KLHL4 Gene

  • Nervous system(4.8)
  • Lymph node(4)
genes like me logo Genes that share expression patterns with KLHL4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL4 Gene

Orthologs for KLHL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KLHL4 33 34
  • 95.6 (n)
(Canis familiaris)
Mammalia KLHL4 33 34
  • 90.49 (n)
(Rattus norvegicus)
Mammalia Klhl4 33
  • 87.34 (n)
(Mus musculus)
Mammalia Klhl4 33 16 34
  • 86 (n)
(Monodelphis domestica)
Mammalia KLHL4 34
  • 82 (a)
(Gallus gallus)
Aves KLHL4 33 34
  • 77.44 (n)
(Anolis carolinensis)
Reptilia KLHL4 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl4 33
  • 75.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17754 35 34
  • 57 (a)
CG15097 35
  • 39 (a)
CG3571 35
  • 38 (a)
CG1812 35
  • 27 (a)
(Caenorhabditis elegans)
Secernentea T27E9.4b 35
  • 32 (a)
T27E9.4a 35
  • 31 (a)
W02G9.2 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
Species where no ortholog for KLHL4 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000000039 -- 87,622,860(+) G/A intron_variant
rs1000056566 -- 87,565,919(+) A/C intron_variant
rs1000073224 -- 87,524,751(+) G/A intron_variant
rs1000079775 -- 87,631,109(+) C/A intron_variant
rs1000097467 -- 87,632,945(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv3559064 CNV deletion 23714750
nsv520176 CNV gain 19592680
nsv520266 CNV gain 19592680
nsv521499 CNV gain 19592680
nsv526412 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)

Additional Variant Information for KLHL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for KLHL4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mullerian aplasia
  • mayer-rokitansky-kuster-hauser syndrome
orofacial cleft
- elite association - COSMIC cancer census association via MalaCards
Search KLHL4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLHL4

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 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa BS … Friedman JS (Human genomics 2013) 3 58

Products for KLHL4 Gene

Sources for KLHL4 Gene

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