Cplane2 ciliogenesis and planar polarity effector 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cplane2provided by MGI
Official Full Name: ciliogenesis and planar polarity effector 2provided by MGI
Primary source: MGI:MGI:1923416
See related: Ensembl:ENSMUSG00000073733 AllianceGenome:MGI:1923416
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: Rsg1; Gm723; b2b2804Clo; b2b2827Clo; 6330545A04Rik
Summary: Enables GTP binding activity and GTPase activity. Acts upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole and ciliary transition zone. Is active in ciliary base. Used to study VACTERL association and visceral heterotaxy. Orthologous to human CPLANE2 (ciliogenesis and planar polarity effector complex subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 1.3), ovary adult (RPKM 1.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 73.47 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (140941249..140947425)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (141213940..141220114)

Chromosome 4 - NC_000070.7 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 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?

RSG1 is required for cilia-dependent neural tube closure.
Title: RSG1 is required for cilia-dependent neural tube closure.
RSG1 localizes to the mother centriole in a process that depends on tau tubulin kinase 2 (TTBK2), the CPLANE complex protein Inturned (INTU), and its own GTPase activity. The data suggest a specific role for RSG1 in the final maturation of the mother centriole and ciliary vesicle that allows extension of the ciliary axoneme.
Title: The small GTPase RSG1 controls a final step in primary cilia initiation.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocardial cushion fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of exocytosis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vesicle fusion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in ciliary base	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ciliogenesis and planar polarity effector 2

Names: REM2 and RAB-like small GTPase 1; REM2- and Rab-like small GTPase 1; miro domain-containing protein C1orf89 homolog

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_001081174.2 → NP_001074643.1 ciliogenesis and planar polarity effector 2

See identical proteins and their annotated locations for NP_001074643.1

Status: VALIDATED

Source sequence(s)

BC147765, BY232166

Consensus CDS

CCDS38937.1

UniProtKB/Swiss-Prot

A2A825

UniProtKB/TrEMBL

B2RWG6

Related

ENSMUSP00000095422.3, ENSMUST00000097813.3

Conserved Domains (1) summary

cd00882
Location:62 → 180

Ras_like_GTPase; Rat sarcoma (Ras)-like superfamily of small guanosine triphosphatases (GTPases)