Gas2l2 growth arrest-specific 2 like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gas2l2provided by MGI
Official Full Name: growth arrest-specific 2 like 2provided by MGI
Primary source: MGI:MGI:3652048
See related: Ensembl:ENSMUSG00000020686 AllianceGenome:MGI:3652048
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
Summary: Enables G-protein alpha-subunit binding activity. Involved in positive regulation of G protein-coupled receptor signaling pathway and regulation of cilium beat frequency involved in ciliary motility. Colocalizes with ciliary basal body and plasma membrane. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 41. Orthologous to human GAS2L2 (growth arrest specific 2 like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in ovary adult (RPKM 1.5), lung adult (RPKM 1.3) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 50.33 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (83312461..83320347, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (83421635..83429521, complement)

Chromosome 11 - NC_000077.7 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?

results show that a pathogenic variant in GAS2L2 causes a genetic defect in ciliary orientation and impairs mucociliary clearance and results in primary ciliary dyskinesia
Title: Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
G2L2 is a new effector that controls the action of A2AR by modulating its ability to regulate the Galphas-mediated cAMP contents.
Title: A novel Gαs-binding protein, Gas-2 like 2, facilitates the signaling of the A2A adenosine receptor.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal anchor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytoskeletal anchor activity	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin crosslink formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule bundle formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule bundle formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in protein localization to microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to microtubule plus-end	ISO Inferred from Sequence Orthology more info
involved_in regulation of cilium beat frequency involved in ciliary motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium beat frequency involved in ciliary motility	ISO Inferred from Sequence Orthology more info
involved_in regulation of microtubule polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule polymerization or depolymerization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with actin filament	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
colocalizes_with ciliary basal body	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with microtubule	ISO Inferred from Sequence Orthology more info
colocalizes_with microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with microtubule plus-end	ISO Inferred from Sequence Orthology more info
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	ISO Inferred from Sequence Orthology more info
colocalizes_with stress fiber	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: GAS2-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_001013759.2 → NP_001013781.1 GAS2-like protein 2

See identical proteins and their annotated locations for NP_001013781.1

Status: VALIDATED

Source sequence(s)

BB806501, BC147480

Consensus CDS

CCDS25164.1

UniProtKB/Swiss-Prot

B9EJR3, Q5SSG4

Related

ENSMUSP00000051907.3, ENSMUST00000052521.9

Conserved Domains (2) summary

cd00014
Location:34 → 159

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam02187
Location:207 → 274

GAS2; Growth-Arrest-Specific Protein 2 Domain