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

Summary

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; protein homodimerization activity; and ubiquitin-like ligase-substrate adaptor 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, Dec 2024]
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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8Mit7 (e-PCR), detects polymorphism
- UniSTS:131615

D00570 (e-PCR)
- UniSTS:124723

RH136561 (e-PCR)
- UniSTS:210542

NoName (e-PCR)
- UniSTS:235903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
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	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like ligase-substrate adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
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 actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in ruffle	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)

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

65192707..65302821 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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)