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Aliases for KLHL2 Gene

Aliases for KLHL2 Gene

  • Kelch-Like Family Member 2 2 3
  • Actin-Binding Protein Mayven 3 4
  • MAYVEN 3 6
  • Kelch (Drosophila)-Like 2 (Mayven) 2
  • Kelch-Like 2, Mayven (Drosophila) 2
  • Kelch-Like 2, Mayven 3
  • Kelch-Like Protein 2 3
  • ABP-KELCH 3
  • Mayven 2
  • Kelch 3
  • MAV 3

External Ids for KLHL2 Gene

Summaries for KLHL2 Gene

GeneCards Summary for KLHL2 Gene

KLHL2 (Kelch-Like Family Member 2) is a Protein Coding gene. Diseases associated with KLHL2 include monkeypox. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL10.

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

Genomic Location for KLHL2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL2 Gene

Regulatory Elements 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 for KLHL2 Gene

Gene Families for KLHL2 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

UniProtKB/Swiss-Prot:

KLHL2_HUMAN
Domain:
  • Contains 1 BTB (POZ) domain.:
    • O95198
Similarity:
  • Contains 6 Kelch repeats.:
    • O95198
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:0005515 protein binding IPI 21784977
genes like me logo Genes that share ontologies with KLHL2: view

Phenotypes for KLHL2 Gene

GenomeRNAi human phenotypes for KLHL2:
genes like me logo Genes that share phenotypes with KLHL2: view

miRNA for KLHL2 Gene

miRTarBase miRNAs that target KLHL2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KLHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IEA --
GO:0015629 actin cytoskeleton IDA 10397770
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with KLHL2: view

Pathways for KLHL2 Gene

SuperPathways for KLHL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination ISS --
genes like me logo Genes that share ontologies with KLHL2: view

No data available for Pathways by source for KLHL2 Gene

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

Integrated Proteomics: protein expression 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 expressions with KLHL2: view

Orthologs for KLHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL2 36
  • 99.1 (n)
  • 99.15 (a)
KLHL2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL2 36
  • 90.58 (n)
  • 95.67 (a)
KLHL2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL2 36
  • 92.55 (n)
  • 98.98 (a)
KLHL2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl2 36
  • 88.76 (n)
  • 98.82 (a)
Klhl2 16
Klhl2 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL2 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL2 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl2 36
  • 88.65 (n)
  • 99.46 (a)
chicken
(Gallus gallus)
Aves KLHL2 36
  • 83.73 (n)
  • 92.52 (a)
KLHL2 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL2 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl2 36
  • 77.08 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl2 36
  • 72.51 (n)
  • 81.46 (a)
klhl2 37
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kel 37
  • 51 (a)
OneToMany
CG15097 38
  • 42 (a)
CG3571 38
  • 41 (a)
kel 38
  • 61 (a)
CG1812 38
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea T27E9.4b 38
  • 36 (a)
kel-1 38
  • 41 (a)
T27E9.4a 38
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
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

Relevant External Links for KLHL2 Gene

HapMap Linkage Disequilibrium report
KLHL2

Disorders for KLHL2 Gene

(1) MalaCards Diseases for KLHL2 Gene

Search for KLHL2 Gene in MalaCards »

(3) University of Copenhagen DISEASES for KLHL2 Gene

Relevant External Links for KLHL2

Genetic Association Database (GAD)
KLHL2
Human Genome Epidemiology (HuGE) Navigator
KLHL2
genes like me logo Genes that share disorders with KLHL2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Mayven induces c-Jun expression and cyclin D1 activation in breast cancer cells. (PMID: 15735724) Bu X. … Avraham S. (Oncogene 2005) 3 23
  3. hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure. (PMID: 15383316) Mai A. … Yonehara S. (Exp. Cell Res. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. 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

Products for KLHL2 Gene

  • Addgene plasmids for KLHL2

Sources for KLHL2 Gene

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