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Aliases for KLHL2 Gene

Aliases for KLHL2 Gene

  • Kelch Like Family Member 2 2 3 5
  • Actin-Binding Protein Mayven 3 4
  • Kelch (Drosophila)-Like 2 (Mayven) 2
  • Kelch-Like 2, Mayven (Drosophila) 2
  • Kelch-Like Family Member 2 3
  • Kelch-Like 2, Mayven 3
  • ABP-KELCH 3
  • Mayven 2
  • MAYVEN 3
  • Kelch 3
  • MAV 3

External Ids for KLHL2 Gene

Previous GeneCards Identifiers for KLHL2 Gene

  • GC04P166992
  • GC04P166557
  • GC04P166706
  • GC04P166486
  • GC04P166348
  • GC04P166128
  • GC04P161880

Summaries for KLHL2 Gene

GeneCards Summary for KLHL2 Gene

KLHL2 (Kelch Like Family Member 2) is a Protein Coding gene. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL5.

UniProtKB/Swiss-Prot for KLHL2 Gene

  • Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL2 Gene

Genomics for KLHL2 Gene

Regulatory Elements for KLHL2 Gene

Enhancers for KLHL2 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 KLHL2 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL2 Gene

Chromosome:
4
Start:
165,207,618 bp from pter
End:
165,323,156 bp from pter
Size:
115,539 bases
Orientation:
Plus strand

Genomic View for KLHL2 Gene

Genes around KLHL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL2 Gene

Proteins for KLHL2 Gene

  • Protein details for KLHL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95198-KLHL2_HUMAN
    Recommended name:
    Kelch-like protein 2
    Protein Accession:
    O95198
    Secondary Accessions:
    • A6NCM7
    • B2RD18
    • B4DFH7
    • F5H6M3
    • Q8N484
    • Q8TBH5

    Protein attributes for KLHL2 Gene

    Size:
    593 amino acids
    Molecular mass:
    65975 Da
    Quaternary structure:
    • Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. Interacts with NPTXR and CUL3 (By similarity). Binds actin. Interacts with KLHL12. Interacts (via N-terminus) with FYN (via SH3 domain).

    Three dimensional structures from OCA and Proteopedia for KLHL2 Gene

    Alternative splice isoforms for KLHL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL2 Gene

Proteomics data for KLHL2 Gene at MOPED

Post-translational modifications for KLHL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLHL2 Gene

Domains & Families for KLHL2 Gene

Gene Families for KLHL2 Gene

Graphical View of Domain Structure for InterPro Entry

O95198

UniProtKB/Swiss-Prot:

KLHL2_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL2: view

Function for KLHL2 Gene

Molecular function for KLHL2 Gene

GENATLAS Biochemistry:
Kelch (Drosophila)-like 2,actin-binding protein,termed Mayven,predominantly expressed in brain,that may be translocated along axonal processes and might be involved in the dynamic organization of the actin cytoskeleton in brain cells
UniProtKB/Swiss-Prot Function:
Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors.

Gene Ontology (GO) - Molecular Function for KLHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 10397770
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL2: view
genes like me logo Genes that share phenotypes with KLHL2: view

Animal Model Products

miRNA for KLHL2 Gene

miRTarBase miRNAs that target KLHL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL2 Gene

Localization for KLHL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL2 Gene

Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection. Cell projection, lamellipodium. Cytoplasm, cytosol. Note=A proportion colocalizes with the actin cytoskeleton. When over-expressed, colocalizes with NPTXR in perinuclear aggresomes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL2 Gene COMPARTMENTS Subcellular localization image for KLHL2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KLHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IEA --
GO:0016021 integral component of membrane IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex ISS --
genes like me logo Genes that share ontologies with KLHL2: view

Pathways & Interactions for KLHL2 Gene

SuperPathways for KLHL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KLHL2 Gene

Drugs & Compounds for KLHL2 Gene

No Compound Related Data Available

Transcripts for KLHL2 Gene

Unigene Clusters for KLHL2 Gene

Kelch-like family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for KLHL2 Gene

GeneLoc Exon Structure for
KLHL2
ECgene alternative splicing isoforms for
KLHL2

Expression for KLHL2 Gene

mRNA expression in normal human tissues for KLHL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL2 Gene

This gene is overexpressed in Plasma (39.9) and Breast (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL2 Gene



SOURCE GeneReport for Unigene cluster for KLHL2 Gene Hs.388668

mRNA Expression by UniProt/SwissProt for KLHL2 Gene

O95198-KLHL2_HUMAN
Tissue specificity: Ubiquitous. Detected throughout the brain.
genes like me logo Genes that share expression patterns with KLHL2: view

Protein tissue co-expression partners for KLHL2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for KLHL2 Gene

Orthologs for KLHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KLHL2 35
  • 90.58 (n)
  • 95.67 (a)
KLHL2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL2 35
  • 92.55 (n)
  • 98.98 (a)
KLHL2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl2 35
  • 88.76 (n)
  • 98.82 (a)
Klhl2 16
Klhl2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHL2 35
  • 99.1 (n)
  • 99.15 (a)
KLHL2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl2 35
  • 88.65 (n)
  • 99.46 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHL2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL2 35
  • 83.73 (n)
  • 92.52 (a)
KLHL2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL2 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl2 35
  • 77.08 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl2 35
  • 72.51 (n)
  • 81.46 (a)
klhl2 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15097 37
  • 42 (a)
CG1812 37
  • 25 (a)
CG3571 37
  • 41 (a)
kel 37
  • 61 (a)
kel 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kel-1 37
  • 41 (a)
T27E9.4a 37
  • 36 (a)
T27E9.4b 37
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for KLHL2:
  • 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)
  • 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)

Evolution for KLHL2 Gene

ENSEMBL:
Gene Tree for KLHL2 (if available)
TreeFam:
Gene Tree for KLHL2 (if available)

Paralogs for KLHL2 Gene

Pseudogenes.org Pseudogenes for KLHL2 Gene

genes like me logo Genes that share paralogs with KLHL2: view

Variants for KLHL2 Gene

Sequence variations from dbSNP and Humsavar for KLHL2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs907737 -- 165,253,789(-) TAAAA(A/G)AAATA intron-variant
rs907739 -- 165,229,087(-) TGACC(C/T)CCAAC intron-variant
rs1138852 -- 165,250,013(-) cctag(C/T)agctg intron-variant
rs1138853 -- 165,250,030(-) tctcc(C/T)gcctc intron-variant
rs1138854 -- 165,250,068(-) cggct(C/T)actgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL2 Gene

Variant ID Type Subtype PubMed ID
nsv881168 CNV Gain 21882294
esv26333 CNV Loss 19812545
esv21788 CNV Loss 19812545

Variation tolerance for KLHL2 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.37% 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 KLHL2 Gene

Disorders for KLHL2 Gene

Relevant External Links for KLHL2

Genetic Association Database (GAD)
KLHL2
Human Genome Epidemiology (HuGE) Navigator
KLHL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL2

No disorders were found for KLHL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL2 Gene

Publications for KLHL2 Gene

  1. Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. (PMID: 10397770) Soltysik-Espanola M.B. … Avraham S. (Mol. Biol. Cell 1999) 2 3 4 23 67
  2. Role of Mayven, a kelch-related protein in oligodendrocyte process formation. (PMID: 16035103) Williams S.K. … Barnett S.C. (J. Neurosci. Res. 2005) 2 3
  3. Mayven induces c-Jun expression and cyclin D1 activation in breast cancer cells. (PMID: 15735724) Bu X. … Avraham S. (Oncogene 2005) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation. (PMID: 24641320) Schumacher F.R. … Kurz T. (Biochem. J. 2014) 3

Products for KLHL2 Gene

Sources for KLHL2 Gene

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