GAS2L2 growth arrest specific 2 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAS2L2provided by HGNC
Official Full Name: growth arrest specific 2 like 2provided by HGNC
Primary source: HGNC:HGNC:24846
See related: Ensembl:ENSG00000270765 MIM:611398; AllianceGenome:HGNC:24846
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAR17; CILD41
Summary: The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
Expression: Biased expression in lung (RPKM 1.4), fat (RPKM 0.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (35744511..35753239, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (36692448..36701176, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (34071530..34080258, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.
Title: A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.
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.
GAS2L1 and GAS2L2 are differentially involved in mediating the crosstalk between F-actin and microtubules.
Title: GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins.
The beta isoforms of hGAR17 and hGAR22 appear to be able to crosslink microtubules and microfilaments
Title: Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 41 MedGen: C5193103 OMIM: 618449 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal anchor activity	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cilium beat frequency involved in ciliary motility	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: GAS2-like protein 2

Names: GAS2-related protein on chromosome 17

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.

Genomic

NG_029638.1 RefSeqGene

Range

4640..13368

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_139285.4 → NP_644814.1 GAS2-like protein 2

See identical proteins and their annotated locations for NP_644814.1

Status: REVIEWED

Source sequence(s)

AC006237

Consensus CDS

CCDS11298.1

UniProtKB/Swiss-Prot

Q8NHY3, Q8NHY4

Related

ENSP00000474529.2, ENST00000604641.6

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