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    Klhl2 kelch-like 2, Mayven [ Mus musculus (house mouse) ]

    Gene ID: 77113, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Klhl2provided by MGI
    Official Full Name
    kelch-like 2, Mayvenprovided by MGI
    Primary source
    MGI:MGI:1924363
    See related
    Ensembl:ENSMUSG00000031605 AllianceGenome:MGI:1924363
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mav; ABP-KELCH; 6030411N21Rik; 8530402H02Rik
    Summary
    Predicted to enable actin binding activity and protein homodimerization activity. Involved in protein ubiquitination. Located in cytoplasm. Part of Cul3-RING ubiquitin ligase complex. Is expressed in white fat. Orthologous to human KLHL2 (kelch like family member 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cortex adult (RPKM 26.9), frontal lobe adult (RPKM 22.8) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 B3.1; 8 32.3 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (65192707..65302821, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (64739673..64850169, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_21638 Neighboring gene carboxypeptidase E Neighboring gene STARR-seq mESC enhancer starr_21639 Neighboring gene STARR-positive B cell enhancer ABC_E2262 Neighboring gene methylsterol monoxygenase 1 Neighboring gene predicted gene, 46040 Neighboring gene predicted gene, 53437 Neighboring gene predicted gene, 40501 Neighboring gene predicted gene 45405

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Kelch-Like Protein 2 Mediates Angiotensin II-With No Lysine 3 Signaling in the Regulation of Vascular Tonus. Zeniya M, et al. J Am Soc Nephrol, 2015 Sep. PMID 25556166, Free PMC Article
    2. Impaired degradation of medullary WNK4 in the kidneys of KLHL2 knockout mice. Kasagi Y, et al. Biochem Biophys Res Commun, 2017 May 27. PMID 28414128
    3. Degradation by Cullin 3 and effect on WNK kinases suggest a role of KLHL2 in the pathogenesis of Familial Hyperkalemic Hypertension. Zhang C, et al. Biochem Biophys Res Commun, 2016 Jan 1. PMID 26607111, Free PMC Article
    4. Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. Soltysik-Espanola M, et al. Mol Biol Cell, 1999 Jul. PMID 10397770, Free PMC Article
    5. Interaction of an intracellular pentraxin with a BTB-Kelch protein is associated with ubiquitylation, aggregation and neuronal apoptosis. Tseng LA, et al. Mol Cell Neurosci, 2011 Aug. PMID 21549840, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Accordingly, medullary WNK4 protein levels were significantly increased in the kidneys of KLHL2(-/-) mice. KLHL2 is indeed a physiological regulator of WNK4 in vivo; however, its function might be different from that of KLHL3 because KLHL2 mainly localized in medulla.
      Title: Impaired degradation of medullary WNK4 in the kidneys of KLHL2 knockout mice.
    2. These results suggest that KLHL2 likely plays a role in the pathogenesis of FHHt, and aggravates the phenotype caused by mutations in CUL3 and WNK4.
      Title: Degradation by Cullin 3 and effect on WNK kinases suggest a role of KLHL2 in the pathogenesis of Familial Hyperkalemic Hypertension.
    3. This study showed that KLHL2 is involved in the physiologic regulation of the WNK signal cascade.
      Title: Kelch-Like Protein 2 Mediates Angiotensin II-With No Lysine 3 Signaling in the Regulation of Vascular Tonus.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4249

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stress fiber ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch-like protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_178633.3 → NP_848748.2  kelch-like protein 2

      See identical proteins and their annotated locations for NP_848748.2

      Status: VALIDATED

      Source sequence(s)
      AC140351, AC152168, AC242529
      Consensus CDS
      CCDS85544.1
      UniProtKB/Swiss-Prot
      Q8CCU0, Q8JZP3, Q8R3U4
      Related
      ENSMUSP00000034017.8, ENSMUST00000034017.9
      Conserved Domains (4) summary
      PHA03098
      Location:56 → 573
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:486 → 530
      Kelch; KELCH repeat [structural motif]
      cd18338
      Location:35 → 155
      BTB_POZ_KLHL2_Mayven; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 2 (KLHL2)
      cd18512
      Location:153 → 282
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      65192707..65302821 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313011.1 → XP_017168500.1  kelch-like protein 2 isoform X1

      Conserved Domains (4) summary
      PHA03098
      Location:56 → 606
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:519 → 563
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:186 → 315
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
      cl38908
      Location:35 → 188
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    2. XM_036154378.1 → XP_036010271.1  kelch-like protein 2 isoform X3

      Conserved Domains (4) summary
      PHA03098
      Location:18 → 568
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:481 → 525
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:148 → 277
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
      cl38908
      Location:1 → 150
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    3. XM_036154379.1 → XP_036010272.1  kelch-like protein 2 isoform X4

      Conserved Domains (4) summary
      PHA03098
      Location:18 → 535
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:448 → 492
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:115 → 244
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
      cl38908
      Location:1 → 117
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    4. XM_017313012.3 → XP_017168501.1  kelch-like protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GQV2, Q5DTF0
      Related
      ENSMUSP00000147262.2, ENSMUST00000210166.2
      Conserved Domains (4) summary
      PHA03098
      Location:56 → 573
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:486 → 530
      Kelch; KELCH repeat [structural motif]
      cd18338
      Location:35 → 155
      BTB_POZ_KLHL2_Mayven; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 2 (KLHL2)
      cd18512
      Location:153 → 282
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8JZP3.1 GenPept UniProtKB/Swiss-Prot:Q8JZP3

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