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] See more...

Aliases for GAS2L2 Gene

Aliases for GAS2L2 Gene

  • Growth Arrest Specific 2 Like 2 2 3 5
  • GAR17 2 3 4
  • GAS2-Related Protein On Chromosome 17 3 4
  • GAS2-Like Protein 2 3 4
  • Growth Arrest-Specific Protein 2-Like 2 4
  • CILD41 3
  • GAS2L2 5

External Ids for GAS2L2 Gene

Previous GeneCards Identifiers for GAS2L2 Gene

  • GC17M034218
  • GC17M031095
  • GC17M034071
  • GC17M030256

Summaries for GAS2L2 Gene

Entrez Gene Summary for GAS2L2 Gene

  • 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]

GeneCards Summary for GAS2L2 Gene

GAS2L2 (Growth Arrest Specific 2 Like 2) is a Protein Coding gene. Diseases associated with GAS2L2 include Ciliary Dyskinesia, Primary, 41 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include microtubule binding and cytoskeletal adaptor activity. An important paralog of this gene is SYNE2.

UniProtKB/Swiss-Prot Summary for GAS2L2 Gene

  • Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAS2L2 Gene

Genomics for GAS2L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAS2L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J035763 Promoter/Enhancer 1.9 EPDnew ENCODE CraniofacialAtlas 261.8 -12.0 -11963 2.9 BCLAF1 ZNF654 ZNF600 ZNF580 ZNF223 POLR2A ZIC2 ZBTB10 MXD4 NONO C17orf50 GAS2L2 HSALNG0115972 LOC107985067 lnc-GAS2L2-2 LIG3 ZNF830 AP2B1 SNHG30 CCT6B
GH17J035747 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 263.4 +2.9 2927 6.2 ZNF654 ZNF600 ZIC2 CTCF REST BHLHE40 RAD21 SMC3 TEAD3 CBX1 GAS2L2 C17orf50 MMP28 HEATR9 HSALNG0115967 RASL10B TAF15
GH17J035807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -56.4 -56357 4.4 SP1 ZNF207 ZNF654 NCOR1 MYC ZNF600 SIX5 JUND ZNF580 ZNF592 ENSG00000270829 HSALNG0115977 TAF15 C17orf50 GAS2L2 MMP28 HEATR9 RDM1 AP2B1 ENSG00000270894
GH17J035930 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 -177.3 -177319 1.9 ZNF207 MYC ZNF10 POLR2A MXD4 SMAD5 SIN3A ETS1 BHLHE40 TBP RDM1 GAS2L2 CCL5 C17orf50 AP2B1 piR-58914
GH17J035875 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.5 -125.1 -125122 6.2 BCLAF1 SP1 POLR2A BCL11A TRIM22 NR2C1 SMAD4 ETV4 RARA TEAD3 CCL5 C17orf50 TAF15 GAS2L2 HEATR9 ENSG00000267744 CCL14 ENSG00000270240 LOC105371744
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAS2L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAS2L2

Top Transcription factor binding sites by QIAGEN in the GAS2L2 gene promoter:
  • c-Ets-1
  • c-Myc
  • HOXA3
  • LCR-F1
  • Max1
  • Nkx2-5
  • Nkx3-1 v1
  • NRSF form 1
  • NRSF form 2
  • POU2F1

Genomic Locations for GAS2L2 Gene

Latest Assembly
chr17:35,744,511-35,753,239
(GRCh38/hg38)
Size:
8,729 bases
Orientation:
Minus strand

Previous Assembly
chr17:34,071,530-34,080,258
(GRCh37/hg19 by Entrez Gene)
Size:
8,729 bases
Orientation:
Minus strand

Genomic View for GAS2L2 Gene

Genes around GAS2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAS2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAS2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAS2L2 Gene

Proteins for GAS2L2 Gene

  • Protein details for GAS2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHY3-GA2L2_HUMAN
    Recommended name:
    GAS2-like protein 2
    Protein Accession:
    Q8NHY3
    Secondary Accessions:
    • Q8NHY4

    Protein attributes for GAS2L2 Gene

    Size:
    880 amino acids
    Molecular mass:
    96520 Da
    Quaternary structure:
    • Interacts with ADORA2A (via its cytoplasmic C-terminal domain) (By similarity). Interacts with GNAS, GNAL, GNAQ, and GNA13 (PubMed:23994616). Interacts with MAPRE1 (PubMed:24706950).

    Alternative splice isoforms for GAS2L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAS2L2 Gene

Post-translational modifications for GAS2L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAS2L2 Gene

No data available for DME Specific Peptides for GAS2L2 Gene

Domains & Families for GAS2L2 Gene

Gene Families for GAS2L2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GAS2L2 Gene

InterPro:
Blocks:
  • Calponin-like actin-binding
  • Growth-arrest-specific protein 2

Suggested Antigen Peptide Sequences for GAS2L2 Gene

GenScript: Design optimal peptide antigens:
  • Growth arrest-specific protein 2-like 2 (GA2L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHY3

UniProtKB/Swiss-Prot:

GA2L2_HUMAN :
  • Belongs to the GAS2 family.
Family:
  • Belongs to the GAS2 family.
genes like me logo Genes that share domains with GAS2L2: view

Function for GAS2L2 Gene

Molecular function for GAS2L2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704).

Phenotypes From GWAS Catalog for GAS2L2 Gene

Gene Ontology (GO) - Molecular Function for GAS2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0005515 protein binding IEA,IPI 24706950
GO:0008017 microtubule binding IEA,IBA 21873635
GO:0008093 cytoskeletal adaptor activity IBA 21873635
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with GAS2L2: view
genes like me logo Genes that share phenotypes with GAS2L2: view

Human Phenotype Ontology for GAS2L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAS2L2 Gene

MGI Knock Outs for GAS2L2:
  • Gas2l2 Gas2l2<tm1a(KOMP)Wtsi>

miRNA for GAS2L2 Gene

miRTarBase miRNAs that target GAS2L2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS2L2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GAS2L2 Gene

Localization for GAS2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAS2L2 Gene

Cytoplasm, cytoskeleton. Cell membrane. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes with ADORA2A at neuronal processes (By similarity). Colocalizes with and tracks the tips of microtubule plus ends (PubMed:24706950). {ECO:0000250 UniProtKB:D3ZUE1, ECO:0000269 PubMed:24706950}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAS2L2 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GAS2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IDA --
GO:0005884 colocalizes_with actin filament IMP 24706950
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with GAS2L2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GAS2L2 Gene

Pathways & Interactions for GAS2L2 Gene

PathCards logo

SuperPathways for GAS2L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GAS2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0001578 microtubule bundle formation IMP 24706950
GO:0007026 negative regulation of microtubule depolymerization IMP --
GO:0031110 regulation of microtubule polymerization or depolymerization IMP 24706950
GO:0045745 positive regulation of G protein-coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GAS2L2: view

No data available for Pathways by source and SIGNOR curated interactions for GAS2L2 Gene

Drugs & Compounds for GAS2L2 Gene

No Compound Related Data Available

Transcripts for GAS2L2 Gene

mRNA/cDNA for GAS2L2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS2L2

Alternative Splicing Database (ASD) splice patterns (SP) for GAS2L2 Gene

No ASD Table

Relevant External Links for GAS2L2 Gene

GeneLoc Exon Structure for
GAS2L2

Expression for GAS2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAS2L2 Gene

mRNA differential expression in normal tissues according to GTEx for GAS2L2 Gene

This gene is overexpressed in Fallopian Tube (x8.6) and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for GAS2L2 Gene

This gene is overexpressed in Heart (35.8) and Adipocyte (33.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GAS2L2 Gene



Protein tissue co-expression partners for GAS2L2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAS2L2

SOURCE GeneReport for Unigene cluster for GAS2L2 Gene:

Hs.591194

mRNA Expression by UniProt/SwissProt for GAS2L2 Gene:

Q8NHY3-GA2L2_HUMAN
Tissue specificity: Expressed in bronchial and nasal epithelial cells (at protein level) (PubMed:30665704). Expressed in brain, kidney, lung, testis, fallopian tubes, and skeletal muscle (PubMed:12584248, PubMed:30665704). Expressed at low levels in stomach and colon (PubMed:30665704).
genes like me logo Genes that share expression patterns with GAS2L2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAS2L2 Gene

Orthologs for GAS2L2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GAS2L2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GAS2L2 29
  • 99.02 (n)
Cow
(Bos Taurus)
Mammalia GAS2L2 29
  • 81.41 (n)
Dog
(Canis familiaris)
Mammalia GAS2L2 29
  • 78.91 (n)
Mouse
(Mus musculus)
Mammalia Gas2l2 29 16
  • 76.36 (n)
Rat
(Rattus norvegicus)
Mammalia Gas2l2 29
  • 75.34 (n)
Species where no ortholog for GAS2L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for GAS2L2 Gene

ENSEMBL:
Gene Tree for GAS2L2 (if available)
TreeFam:
Gene Tree for GAS2L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAS2L2: view image
Alliance of Genome Resources:
Additional Orthologs for GAS2L2

Paralogs for GAS2L2 Gene

(2) SIMAP similar genes for GAS2L2 Gene using alignment to 2 proteins:

  • GA2L2_HUMAN
  • K7EIX8_HUMAN
genes like me logo Genes that share paralogs with GAS2L2: view

Variants for GAS2L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAS2L2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs145313062 Uncertain Significance: not specified 35,745,876(-) C/T
NM_139285.3(GAS2L2):c.1621G>A (p.Val541Ile)
MISSENSE
rs587633197 Pathogenic/Likely Pathogenic: Primary ciliary dyskinesia; Ciliary dyskinesia, primary, 41 35,747,210(-) CCTTA/C
NM_139285.3(GAS2L2):c.887_890delTAAG (p.Val296Glyfs)
FRAMESHIFT
rs11654604 -- p.Ala164Val
rs12602590 -- p.Ala540Thr
rs3744374 -- p.Ala654Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GAS2L2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GAS2L2 Gene

Variant ID Type Subtype PubMed ID
esv1004453 CNV deletion 20482838
esv3892999 CNV loss 25118596
nsv517530 CNV loss 19592680

Variation tolerance for GAS2L2 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.59; 91.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAS2L2 Gene

Human Gene Mutation Database (HGMD)
GAS2L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAS2L2
Leiden Open Variation Database (LOVD)
GAS2L2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS2L2 Gene

Disorders for GAS2L2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GAS2L2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GA2L2_HUMAN
  • Ciliary dyskinesia, primary, 41 (CILD41) [MIM:618449]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive. {ECO:0000269 PubMed:30665704}. Note=The disease is caused by variants affecting the gene represented in this entry. Absence of GAS2L2 results in ciliary orientation defect and affects performance of cilia. {ECO:0000269 PubMed:30665704}.

Additional Disease Information for GAS2L2

genes like me logo Genes that share disorders with GAS2L2: view

No data available for Genatlas for GAS2L2 Gene

Publications for GAS2L2 Gene

  1. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. (PMID: 30665704) Bustamante-Marin XM … Ostrowski LE (American journal of human genetics 2019) 3 4 72
  2. Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules. (PMID: 12584248) Goriounov D … Liem RK (Journal of cell science 2003) 2 3 4
  3. GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins. (PMID: 24706950) Stroud MJ … Ballestrem C (Journal of cell science 2014) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. (PMID: 30649222) Forouhideh Y … Weishaupt JH (Brain : a journal of neurology 2019) 72

Products for GAS2L2 Gene

Sources for GAS2L2 Gene