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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHL2 Gene

protein-coding   GIFtS: 54
GCID: GC04P166128

kelch-like family member 2

(Previous names: kelch (Drosophila)-like 2 (Mayven), kelch-like 2, Mayven...)
 Explore 10 diseases affiliated with
KLHL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KLHL2    

Aliases
for KLHL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch-Like Family Member 21 2     Kelch-Like 2, Mayven (Drosophila)1
MAV1 2     ABP-KELCH2
Actin-Binding Protein Mayven2 3     Kelch1
MAYVEN2 5     Kelch-Like 2, Mayven2
Kelch (Drosophila)-Like 2 (Mayven)1     Kelch-Like Protein 22

External Ids:    HGNC: 63531   Entrez Gene: 112752   Ensembl: ENSG000001094667   OMIM: 6057745   UniProtKB: O951983   

Export aliases for KLHL2 gene to outside databases

Previous GC identifers: GC04P166992 GC04P166557 GC04P166706 GC04P166486 GC04P166348 GC04P161880


Summaries
for KLHL2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: KLHL2_HUMAN, O95198
Function: May play a role in organizing the actin cytoskeleton of the brain cells




Genomic Views
for KLHL2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL2 gene promoter:
         Nkx3-1   Nkx3-1 v4   AP-1   ATF-2   Nkx3-1 v1   Nkx3-1 v2   STAT3   Nkx3-1 v3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q21.2   Ensembl cytogenetic band:  4q32.3   HGNC cytogenetic band: 4q21.2

KLHL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P166128:  view genomic region     (about GC identifiers)

Start:
 166,128,770 bp from pter      End:
 166,244,308 bp from pter
Size:
 115,539 bases      Orientation:
 plus strand

Proteins
for KLHL2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KLHL2_HUMAN, O95198 (See protein sequence)
Recommended Name: Kelch-like protein 2  
Size: 593 amino acids; 65975 Da
Subunit: Binds actin. Interacts with KLHL12
Subcellular location: Cytoplasm, cytoskeleton
1 PDB 3D structure from and Proteopedia for KLHL2:
2XN4 (3D)    
Secondary accessions: A6NCM7 B4DFH7 Q8N484 Q8TBH5
Alternative splicing: 2 isoforms:  O95198-1   O95198-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHL2: NX_O95198

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95198

    • KLHL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001154993.1  NP_001154994.1  NP_009177.3  

    ENSEMBL proteins: 
     ENSP00000226725   ENSP00000422113   ENSP00000421324   ENSP00000424198   ENSP00000421844  
     ENSP00000408974   ENSP00000424108   ENSP00000437526  

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    Novus Biologicals KLHL2 Lysates
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    Uscn Proteins for KLHL2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton TAS10397770
    GO:0015629actin cytoskeleton TAS10397770


    KLHL2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KLHL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KLHL2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR015916 Gal_Oxidase_b-propeller

    Graphical View of Domain Structure for InterPro Entry O95198

    ProtoNet protein and cluster: O95198

    2 Blocks protein families:
    IPB011498 Kelch
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLHL2_HUMAN, O95198
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Function
    for KLHL2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KLHL2_HUMAN, O95198
    Function: May play a role in organizing the actin cytoskeleton of the brain cells

         Genatlas biochemistry entry for KLHL2:
    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

    miRNA
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    hsa-miR-193a-3p hsa-miR-892b hsa-miR-181c hsa-miR-3664-5p hsa-miR-1271 hsa-miR-1278 hsa-miR-340 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmid: KLHL2 3' UTR sequence
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005215transporter activity TAS10397770
    GO:0005515protein binding IPI--


    KLHL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KLHL2:
     Increased cilium length after  


    Pathways & Interactions
    for KLHL2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KLHL2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for KLHL2 (O951982, 3 ENSP000002267254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLHL12Q53G592, 3, ENSP000003562304MINT-66974 I2D: score=6 STRING: ENSP00000356230
    CUL3Q136183I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS10397770


    KLHL2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KLHL2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHL2
    Search CenterWatch for drugs/clinical trials and news about KLHL2 

    Transcripts
    for KLHL2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KLHL2 gene (3 alternative transcripts): 
    NM_001161521.1  NM_001161522.1  NM_007246.3  

    Unigene Cluster for KLHL2:

    Kelch-like 2, Mayven (Drosophila)
    Hs.388668  [show with all ESTs]
    Unigene Representative Sequence: BC022503
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226725(uc003irb.3) ENST00000511305 ENST00000509704 ENST00000514860
    ENST00000506824 ENST00000421009 ENST00000506541 ENST00000506761 ENST00000509028
    ENST00000538127(uc011cjm.2 uc003irc.3 uc010ira.3)

    miRNA
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    hsa-miR-193a-3p hsa-miR-892b hsa-miR-181c hsa-miR-3664-5p hsa-miR-1271 hsa-miR-1278 hsa-miR-340 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmid: KLHL2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB209727.1 AF059569.1 AK025289.1 AK294103.1 AK294336.1 AK308940.1 AK315372.1 BC022503.1 
    BC036468.2 BX647776.1 

    9 DOTS entries:

    DT.308481  DT.92425498  DT.121225319  DT.92425499  DT.121225310  DT.121225325  DT.433589  DT.92425500 
    DT.92425501 

    24/68 AceView cDNA sequences (see all 68):

    AK025289 AW104903 BG117651 BC036468 BM972676 BQ017177 BM680706 BM675125 
    CA393754 D81411 BM996343 BM718818 AI583009 CB241258 BU608540 BQ421470 
    CA447675 BG704737 BM784279 BI766522 NM_007246 BG290373 AA872448 BX118199 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL2    About this scheme

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


    ECgene alternative splicing isoforms for KLHL2

    Expression
    for KLHL2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTTTCTTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KLHL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLHL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL2

    SOURCE GeneReport for Unigene cluster: Hs.388668

    UniProtKB/Swiss-Prot: KLHL2_HUMAN, O95198
    Tissue specificity: Predominantly expressed in brain

        SABiosciences Expression via Pathway-Focused PCR Array including KLHL2: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for KLHL2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KLHL2 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KLHL21 kelch-like 2, Mayven (Drosophila) 83.73(n)
    92.52(a)    		   422422  XM_420390.3  XP_420390.2 
    lizard
    (Anolis carolinensis)    		 Reptilia KLHL26
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343317.1(37154-69219)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-287c11.11 si:ch211-287c11.1 72.58(n)
    81.74(a)    		   567966  XM_691277.5  XP_696369.5 
    fruit fly
    (Drosophila melanogaster)    		 Insecta kel3 oogenesis actin binding 61(a)
    (best of 4)    		   36D3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea kel-13 ring canal protein like 41(a)
    (best of 3)    		   II(11688872-11695905)   --


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

    Paralogs
    for KLHL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL2 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KEAP12  KLHL282  KLHL42  
    IPP2  KLHL32  KLHL82  KLHL102  KLHL12  
    18/81 SIMAP similar genes for KLHL2 using alignment to 8 protein entries:     KLHL2_HUMAN (see all proteins) (see all similar genes):
    KLHL3    AURA2    SHANK2    EIF3L    TMEM14B    ZBTB7C
    NF2    GLT8D2    NEK4    ZBTB4    ZNF564    MED15
    FAM175A    FAM3A    SEPT2    BACH1    TSEN2    BACH2

    KLHL2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KLHL2
    PGOHUM00000259954 PGOHUM00000259955


    Genomic Variants
    for KLHL2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KLHL2
         1 CNV: 64013
         1 Indel: 68835
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    Disorders / Diseases
    for KLHL2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KLHL2 for disorders           About GeneDecksing

    OMIM gene information: 605774    OMIM disorders: --

    10 diseases for KLHL2:    About MalaCards
    contagious pustular dermatitis    monkeypox    cowpox    smallpox
    skin disease    dermatitis    vaccinia    pharyngitis
    breast cancer    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for KLHL2:
    Cowpox     Monkeypox     Smallpox
    Human Genome Epidemiology (HuGE) Navigator: KLHL2 (1 document)

    Export disorders for KLHL2 gene to outside databases

    Publications
    for KLHL2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLHL2 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with KLHL2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. (PubMed id 10397770)1, 2, 3, 9 Soltysik-Espanola M.B.... Avraham S. (1999)
    2. Role of Mayven, a kelch-related protein in oligodendrocyte process formation. (PubMed id 16035103)1, 3 Williams S.K....Barnett S.C. (2005)
    3. hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure. (PubMed id 15383316)1, 2 Mai A....Yonehara S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Mayven induces c-Jun expression and cyclin D1 activation in breast cancer cells. (PubMed id 15735724)1, 9 Bu X....Avraham S. (2005)
    6. Interaction of an intracellular pentraxin with a BTB- Kelch protein is associated with ubiquitylation, aggregation and neuronal apopt osis. (PubMed id 21549840)1 Tseng L.A. and Bixby J.L. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. NAC1, a POZ/BTB protein that functions as a corepressor. (PubMed id 19121354)1 Korutla L....Mackler S.A. (2009)

    External Searches for KLHL2 gene

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    Genome Databases showing KLHL2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11275 HGNC: 6353 AceView: KLHL2 Ensembl:ENSG00000109466 euGenes: HUgn11275
    ECgene: KLHL2 H-InvDB: KLHL2

    Other Databases showing KLHL2 gene

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    Specialized Databases showing KLHL2 gene

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    PharmGKB entry for KLHL2 Pharmacogenomics, SNPs, Pathways

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