Klhdc2 kelch domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Klhdc2provided by MGI
Official Full Name: kelch domain containing 2provided by MGI
Primary source: MGI:MGI:1916804
See related: Ensembl:ENSMUSG00000020978 AllianceGenome:MGI:1916804
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: LCP; HCLP-1; D12Ertd522e; 2310022K15Rik
Summary: Predicted to enable ubiquitin ligase-substrate adaptor activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Predicted to act upstream of or within protein ubiquitination. Predicted to be located in nuclear body and nuclear membrane. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Orthologous to human KLHDC2 (kelch domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 57.4), CNS E18 (RPKM 56.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C2; 12 28.77 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (69343455..69357461)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (69296681..69310687)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

A conserved but uncharacterized gene encoding Klhdc2, which was down-regulated during endothelial differentiation, was identified.
Title: Differentially expressed genes in endothelial differentiation.
These results suggest that a tightly controlled expression of mKlhdc2 is essential for a faithful execution of the myogenic differentiation and migration program.
Title: Overexpression of Kelch domain containing-2 (mKlhdc2) inhibits differentiation and directed migration of C2C12 myoblasts.

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Variation

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Alleles

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

Targeted (3)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:236937 (e-PCR)
- UniSTS:236937

AU022198 (e-PCR)
- UniSTS:167091

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: kelch domain-containing protein 2

Names: endothelial differentiation inhibitory protein TNG

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_027117.3 → NP_081393.2 kelch domain-containing protein 2

See identical proteins and their annotated locations for NP_081393.2

Status: VALIDATED

Source sequence(s)

AC099934, AK009481

Consensus CDS

CCDS25950.1

UniProtKB/Swiss-Prot

E9QKN6, Q4G5Y1, Q99JY2, Q9D784

Related

ENSMUSP00000021362.5, ENSMUST00000021362.5

Conserved Domains (3) summary

PLN02193
Location:29 → 296

PLN02193; nitrile-specifier protein

sd00038
Location:218 → 265

Kelch; KELCH repeat [structural motif]

pfam13415
Location:279 → 326

Kelch_3; Galactose oxidase, central domain