This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal... See more...

Aliases for KLHL6 Gene

Aliases for KLHL6 Gene

  • Kelch Like Family Member 6 2 3 5
  • Kelch-Like Protein 6 3 4
  • Kelch-Like 6 (Drosophila) 2
  • Kelch-Like Protein KLHL6 2

External Ids for KLHL6 Gene

Previous GeneCards Identifiers for KLHL6 Gene

  • GC03M179980
  • GC03M184061
  • GC03M184607
  • GC03M184526
  • GC03M184688
  • GC03M183205
  • GC03M180611

Summaries for KLHL6 Gene

Entrez Gene Summary for KLHL6 Gene

  • This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

GeneCards Summary for KLHL6 Gene

KLHL6 (Kelch Like Family Member 6) is a Protein Coding gene. Diseases associated with KLHL6 include Lymphocytic Leukemia. An important paralog of this gene is KLHL24.

UniProtKB/Swiss-Prot Summary for KLHL6 Gene

  • Involved in B-lymphocyte antigen receptor signaling and germinal center formation.

Additional gene information for KLHL6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHL6 Gene

Genomics for KLHL6 Gene

GeneHancer (GH) Regulatory Elements for KLHL6 Gene

Promoters and enhancers for KLHL6 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 KLHL6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL6

Top Transcription factor binding sites by QIAGEN in the KLHL6 gene promoter:
  • AML1a
  • ATF6
  • c-Ets-1
  • C/EBPalpha
  • C/EBPbeta
  • Evi-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MyoD

Genomic Locations for KLHL6 Gene

Genomic Locations for KLHL6 Gene
chr3:183,487,531-183,555,712
(GRCh38/hg38)
Size:
68,182 bases
Orientation:
Minus strand
chr3:183,205,319-183,273,499
(GRCh37/hg19)
Size:
68,181 bases
Orientation:
Minus strand

Genomic View for KLHL6 Gene

Genes around KLHL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL6 Gene

Proteins for KLHL6 Gene

  • Protein details for KLHL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ60-KLHL6_HUMAN
    Recommended name:
    Kelch-like protein 6
    Protein Accession:
    Q8WZ60
    Secondary Accessions:
    • B2RB31
    • D3DNS8
    • Q8N5I1
    • Q8N892

    Protein attributes for KLHL6 Gene

    Size:
    621 amino acids
    Molecular mass:
    70359 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32348.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL35594.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG37078.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHL6 Gene

Post-translational modifications for KLHL6 Gene

  • Ubiquitination at Lys48
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL6 Gene

No data available for DME Specific Peptides for KLHL6 Gene

Domains & Families for KLHL6 Gene

Gene Families for KLHL6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KLHL6 Gene

Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHL6 Gene

GenScript: Design optimal peptide antigens:
  • Kelch-like protein 6 (KLHL6_HUMAN)
genes like me logo Genes that share domains with KLHL6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHL6 Gene

Function for KLHL6 Gene

Molecular function for KLHL6 Gene

UniProtKB/Swiss-Prot Function:
Involved in B-lymphocyte antigen receptor signaling and germinal center formation.

Phenotypes From GWAS Catalog for KLHL6 Gene

Gene Ontology (GO) - Molecular Function for KLHL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25036637
genes like me logo Genes that share ontologies with KLHL6: view
genes like me logo Genes that share phenotypes with KLHL6: view

Animal Models for KLHL6 Gene

MGI Knock Outs for KLHL6:

Animal Model Products

CRISPR Products

miRNA for KLHL6 Gene

miRTarBase miRNAs that target KLHL6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLHL6 Gene

Localization for KLHL6 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 KLHL6 gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Microtubules (2)
  • Mitotic spindle (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KLHL6 Gene

Pathways & Interactions for KLHL6 Gene

PathCards logo

SuperPathways for KLHL6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002467 germinal center formation IEA --
GO:0009617 response to bacterium IEA --
GO:0050853 B cell receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with KLHL6: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL6 Gene

Drugs & Compounds for KLHL6 Gene

No Compound Related Data Available

Transcripts for KLHL6 Gene

mRNA/cDNA for KLHL6 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL6

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: - - -
SP2: - - - -
SP3: - -
SP4:
SP5: - - - -
SP6:

Relevant External Links for KLHL6 Gene

GeneLoc Exon Structure for
KLHL6

Expression for KLHL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL6 Gene

This gene is overexpressed in Whole Blood (x8.7), Spleen (x6.1), and Small Intestine - Terminal Ileum (x5.2).

Protein differential expression in normal tissues from HIPED for KLHL6 Gene

This gene is overexpressed in Prostate (49.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLHL6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHL6

SOURCE GeneReport for Unigene cluster for KLHL6 Gene:

Hs.659147

mRNA Expression by UniProt/SwissProt for KLHL6 Gene:

Q8WZ60-KLHL6_HUMAN
Tissue specificity: Found in germinal center B-cells.

Evidence on tissue expression from TISSUES for KLHL6 Gene

  • Blood(4.2)
  • Spleen(4.2)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with KLHL6: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL6 Gene

Orthologs for KLHL6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL6 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL6 31 30
  • 91.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL6 31 30
  • 91.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl6 17 31 30
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Klhl6 30
  • 87.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL6 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL6 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL6 31 30
  • 77.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL6 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl6 30
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl6 31 30
  • 67.05 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for KLHL6 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KLHL6 Gene

ENSEMBL:
Gene Tree for KLHL6 (if available)
TreeFam:
Gene Tree for KLHL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL6: view image

Paralogs for KLHL6 Gene

Variants for KLHL6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL6 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs548549593 Uncertain Significance: Monoclonal B-Cell Lymphocytosis 183,555,386(-) G/C MISSENSE_VARIANT
rs748341250 Uncertain Significance: Monoclonal B-Cell Lymphocytosis 183,555,407(-) A/G MISSENSE_VARIANT
rs35354575 - p.Ile518Val

Additional dbSNP identifiers (rs#s) for KLHL6 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLHL6 Gene

Variant ID Type Subtype PubMed ID
esv1009906 CNV insertion 20482838
esv1042642 CNV insertion 17803354
esv2672458 CNV deletion 23128226
esv3302650 CNV tandem duplication 20981092
esv3332131 CNV duplication 20981092
esv3569147 CNV loss 25503493
esv3569148 CNV loss 25503493
esv3598924 CNV gain 21293372
esv3598925 CNV loss 21293372
esv3598926 CNV loss 21293372
nsv1006872 CNV loss 25217958
nsv1133329 CNV tandem duplication 24896259
nsv4144 CNV deletion 18451855
nsv475203 CNV novel sequence insertion 20440878
nsv477028 CNV novel sequence insertion 20440878

Variation tolerance for KLHL6 Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL6 Gene

Human Gene Mutation Database (HGMD)
KLHL6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL6 Gene

Disorders for KLHL6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lymphocytic leukemia
  • lymphoblastic leukemia
- elite association - COSMIC cancer census association via MalaCards
Search KLHL6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLHL6

genes like me logo Genes that share disorders with KLHL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL6 Gene

Publications for KLHL6 Gene

  1. Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells. (PMID: 12617994) Gupta-Rossi N … Dahan A (Molecular immunology 2003) 2 3 4 23 54
  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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 54
  5. PTPN14 regulates Roquin2 stability by tyrosine dephosphorylation. (PMID: 30209976) Choi J … Busino L (Cell cycle (Georgetown, Tex.) 2018) 3 54

Products for KLHL6 Gene

Sources for KLHL6 Gene