GAS2L2 (growth arrest specific 2 like 2)

Gene

• Entrez ID: 246176
• Gene name: Growth arrest specific 2 like 2
• Gene symbol: GAS2L2
• Synonyms (NCBI Gene): CILD41, GAR17
• Chromosome: 17
• Chromosome location: 17q12
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587633197	ACTT>-,ACTTACTT	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019142	hsa-miR-335-5p	Microarray	18185580
MIRT1012269	hsa-miR-3622b-5p	CLIP-seq
MIRT1012270	hsa-miR-3688-3p	CLIP-seq
MIRT1012271	hsa-miR-3945	CLIP-seq
MIRT1012272	hsa-miR-4253	CLIP-seq
MIRT1012273	hsa-miR-4261	CLIP-seq
MIRT1012274	hsa-miR-541	CLIP-seq
MIRT1012275	hsa-miR-552	CLIP-seq
MIRT1012276	hsa-miR-654-5p	CLIP-seq
MIRT2233289	hsa-miR-3182	CLIP-seq
MIRT2233290	hsa-miR-4256	CLIP-seq
MIRT2233291	hsa-miR-4717-3p	CLIP-seq
MIRT2233292	hsa-miR-483-3p	CLIP-seq
MIRT2233293	hsa-miR-511	CLIP-seq
MIRT2233294	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001578	Process	Microtubule bundle formation	IBA
GO:0001578	Process	Microtubule bundle formation	IEA
GO:0001578	Process	Microtubule bundle formation	IMP	12584248, 24706950
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IDA	12584248
GO:0001725	Component	Stress fiber	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0005515	Function	Protein binding	IPI	24706950, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12584248
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	12584248
GO:0005884	Component	Actin filament	IMP	24706950
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	12584248
GO:0008017	Function	Microtubule binding	IDA	12584248
GO:0008017	Function	Microtubule binding	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IDA	12584248
GO:0008093	Function	Cytoskeletal anchor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031110	Process	Regulation of microtubule polymerization or depolymerization	IBA
GO:0031110	Process	Regulation of microtubule polymerization or depolymerization	IMP	24706950
GO:0035371	Component	Microtubule plus-end	IBA
GO:0035371	Component	Microtubule plus-end	IMP	24706950
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	IMP	30665704
GO:0042995	Component	Cell projection	IEA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	12584248
GO:0051764	Process	Actin crosslink formation	IBA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IMP	30665704
GO:1904825	Process	Protein localization to microtubule plus-end	IBA
GO:1904825	Process	Protein localization to microtubule plus-end	IDA	24706950
GO:1904825	Process	Protein localization to microtubule plus-end	IEA

Other IDs

• MIM: 611398
• HGNC: 24846
• e!Ensembl: ENSG00000270765

Protein

• UniProt ID: Q8NHY3
• Protein name: GAS2-like protein 2 (GAS2-related protein on chromosome 17) (Growth arrest-specific protein 2-like 2)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	32 → 159	Calponin homology (CH) domain	Domain
  PF02187	GAS2	206 → 274	Growth-Arrest-Specific Protein 2 Domain	Family

• Tissue specificity: 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 stoma
• Sequence:

  MSQPAGGRRKPRTLGPPVCSIRPFKSSEQYLEAMKEDLAEWLRDLYGLDIDAANFLQVLE
  TGLVLCQHANVVTDAALAFLAEAPAQAQKIPMPRVGVSCNGAAQPGTFQARDNVSNFIQW
  CRKEMGIQEVLMFETEDLVLRKNVKNVVLCLLELGRRAWRFGVAAPTLVQLEEEIEEEVR
  RELALPPPDPSPPAPPRRQPCHFRNLDQMVQSLVSHCTCPVQFSMVKVSEGKYRVGDSNT
  LIFIRILRNHVMVRVGGGWDTLGHYLDKHDPCRCTSLSHKPGSFLKPPAPPVQHEVRVQD
  GPSQTQPTMTISRSQSPPPPVDWKTYTSSDRRLRPPTPSSPRPRRERGAGTGASREMAPF
  LRCQERSLIPSWRQPTAGDSPPSPQSSSTQKGRDPQCTSSGKREERYPPELPRGRIPTSW
  VHEETDSWGTDAGNPTPQRLRAIEATTKGISARGPSPLPRSFGPAECLGLRLPLRDEAKG
  AFFQFREPESVRSPTPVQGLTKIPIRLPPARPPTPGRSFPGATSGSPRTELGRDPIPLRA
  VTVDLAGSTHGDCSVEVRQEDQQLDIQVMAEARESWDLGLQEQEGRYTPLPLGGNKEQAI
  YCSLEEEILGNMKLLEVRSACPQGTRSGVIPRSGVYIPRLAGQWPEPGGPYDKAIQELAQ
  GSPSLLKVDLEAWKAAPTGSPKPAVTPGPGSLKGKLGARQSGPRTKASLSAKGTHMRKVP
  PQGGQDCSASTVSASPEAPTPSPLDPNSDKAKACLSKGRRTLRKPKRVPSIYKLKLRPRI
  RPRRDHRPEKQPSRIPRPLAYVFLGPARQPPKDRLLRAVLGSKGGEASRVDGASVGEEEE
  EGKEEKEPAAPLESSPQPPEGLQPHWLNQAPLPPEEESWV

• Sequence length: 880

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Primary ciliary dyskinesia 3	Pathogenic	rs2509920625	RCV003234814	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary dyskinesia, primary, 41	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAS2L2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	30649222		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	36104176	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	30649222		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	30649222		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	30649222		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	30665704		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	30665704		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only