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Aliases for KLHL6 Gene

Aliases for KLHL6 Gene

  • Kelch Like Family Member 6 2 3 5
  • 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. An important paralog of this gene is KLHL24.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for KLHL6 Gene

Genomics for KLHL6 Gene

GeneHancer (GH) Regulatory Elements for KLHL6 Gene

Promoters and enhancers for KLHL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I183552 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 574 +0.9 931 5.5 HDGF ATF1 PKNOX1 SMAD1 YY1 TCF12 ZNF766 ZNF207 ZNF143 ATF7 KLHL6 B3GNT5 KLHL24 KLHL6-AS1
GH03I183513 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 29.2 +42.1 42114 0.9 ZNF687 MAX ELF1 ZNF592 GABPA GABPB1 IKZF1 NR2C1 MLLT1 ZBTB33 KLHL6 B3GNT5 KLHL24 YEATS2 YEATS2-AS1 KLHL6-AS1 ENSG00000271682
GH03I183527 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 30.5 +27.8 27811 1.6 HDGF SMAD1 RB1 BMI1 YBX1 BATF IRF4 ATF7 ETV6 BCLAF1 KLHL6 B3GNT5 KLHL24 ENSG00000251730 ENSG00000199363 ENSG00000253092 SNORA63D LINC00888 YEATS2 KLHL6-AS1
GH03I183532 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +22.3 22292 2.7 HDGF PKNOX1 ATF1 SMAD1 ARNT IRF4 NCOA2 POLR2B ZNF766 FOS KLHL6 ENSG00000199363 ENSG00000251730 ENSG00000253092 SNORA63D LINC00888 EIF4G1 YEATS2 B3GNT5 HTR3D
GH03I183252 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 +300.8 300786 5.6 HDGF ATF1 ARNT TCF12 ZNF121 GLIS2 ZNF263 SP3 REST ZNF592 B3GNT5 KLHL6 ATP11B KLHL24 GC03M183259 RNA5SP151 MCF2L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL6 gene promoter:

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)

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

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

Suggested Antigen Peptide Sequences for KLHL6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0003700 DNA binding transcription factor activity IBA --
GO:0005515 protein binding IPI 25416956
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

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
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for KLHL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with KLHL6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KLHL6 Gene

Pathways & Interactions for KLHL6 Gene

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:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0045893 positive regulation of transcription, DNA-templated IBA --
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

Unigene Clusters for KLHL6 Gene

Kelch-like family member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
KLHL6

Expression for KLHL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for KLHL6 Gene



NURSA nuclear receptor signaling pathways regulating expression of KLHL6 Gene:

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

  • Spleen(4.2)
  • Blood(4.1)
  • Lymph node(2.3)
genes like me logo Genes that share expression patterns with KLHL6: view

Primer Products

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 33 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia KLHL6 33 34
  • 91.71 (n)
dog
(Canis familiaris)
Mammalia KLHL6 33 34
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Klhl6 33 16 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Klhl6 33
  • 87.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL6 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL6 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL6 33 34
  • 77.38 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL6 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl6 33
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl6 33 34
  • 67.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for KLHL6 Gene

(20) SIMAP similar genes for KLHL6 Gene using alignment to 1 proteins:

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

Variants for KLHL6 Gene

Sequence variations from dbSNP and Humsavar for KLHL6 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs548549593 uncertain-significance, Monoclonal B-Cell Lymphocytosis 183,555,386(-) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs748341250 uncertain-significance, Monoclonal B-Cell Lymphocytosis 183,555,407(-) A/C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000046735 -- 183,528,450(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000196555 -- 183,506,076(-) G/A intron_variant
rs1000205313 -- 183,544,007(-) T/C genic_upstream_transcript_variant, intron_variant

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

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

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

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

Disorders for KLHL6 Gene

Additional Disease Information for KLHL6

No disorders were found for KLHL6 Gene.

No data available for MalaCards , 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 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for KLHL6 Gene

Sources for KLHL6 Gene

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