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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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See Klhl2 in Genome Data Viewer
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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