Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	246176
Gene name	Growth arrest specific 2 like 2
Gene symbol	GAS2L2
Synonyms (NCBI Gene)	CILD41GAR17
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]

Show/Hide all (1)

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

Show/Hide all (15)

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

Show/Hide all (39)

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

MIM	HGNC	e!Ensembl
611398	24846	ENSG00000270765

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Primary ciliary dyskinesia 3	Pathogenic	rs2509920625	RCV003234814

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Ciliary dyskinesia, primary, 41	Uncertain significance; Conflicting classifications of pathogenicity	rs201782410, rs782485123, rs140293881, rs587600563, rs146187323, rs587633197	RCV002273100 RCV002466962 RCV005399204 RCV003130986 RCV005015105 RCV000781927
GAS2L2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs143921323, rs12602590, rs150792519, rs115955572, rs145313062, rs587619929, rs78157254, rs782625238, rs145918686, rs140506424, rs75608951, rs587675032, rs114664198, rs200003144, rs140776164 View all (18 more)	RCV003908547 RCV003968474 RCV003926757 RCV003918951 RCV003977708 RCV003901049 RCV003908900 RCV003896966 RCV003907237 RCV003923979 RCV003917284 RCV003929835 RCV003974017 RCV003909376 RCV003913855 RCV003933997 RCV003944196 RCV003952148 RCV003937371 RCV003952195 RCV003959762 RCV003964124 RCV003931559 RCV003914670 RCV003927064 RCV003941495 RCV003959130 RCV003931922 RCV003932161 RCV003954432 RCV003963861 RCV003967194 RCV003411722
Primary ciliary dyskinesia	Uncertain significance	rs587633197	RCV001261720

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ciliary Motility Disorders	Associate	36104176
Pain	Associate	29156912

GAS2L2 (growth arrest specific 2 like 2)