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

Gene ID: 246176, updated on 7-Sep-2023

Summary

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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
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Genomic context

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See GAS2L2 in Genome Data Viewer
Location:
17q12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35744511..35753239, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36692448..36701176, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34071530..34080258, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 2 subunit beta 1 Neighboring gene Sharpr-MPRA regulatory region 1039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34059551-34060074 Neighboring gene ribosomal protein L17 pseudogene 42 Neighboring gene RAS like family 10 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34092667-34093167 Neighboring gene chromosome 17 open reading frame 50 Neighboring gene matrix metallopeptidase 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34121971-34122509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34136503-34137204 Neighboring gene TATA-box binding protein associated factor 15

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia. Feng G, et al. Intern Med, 2022. PMID 36104176, Free PMC Article
  2. Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules. Goriounov D, et al. J Cell Sci, 2003 Mar 15. PMID 12584248
  3. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Bustamante-Marin XM, et al. Am J Hum Genet, 2019 Feb 7. PMID 30665704, Free PMC Article
  4. GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins. Stroud MJ, et al. J Cell Sci, 2014 Jun 15. PMID 24706950, Free PMC Article
  5. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. Guo Z, et al. J Proteome Res, 2012 Oct 5. PMID 22889411

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
 PubMed 
enables cytoskeletal anchor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
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
 PubMed 
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in microtubule bundle formation 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
 PubMed 
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
 PubMed 
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
 PubMed 
colocalizes_with microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 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

  1. NG_029638.1 RefSeqGene

    Range
    4640..13368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    35744511..35753239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36692448..36701176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NHY3.1 GenPept UniProtKB/Swiss-Prot:Q8NHY3

Gene LinkOut

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