GAS2L2 (growth arrest specific 2 like 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
246176
Gene name Gene Name - the full gene name approved by the HGNC.
Growth arrest specific 2 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GAS2L2
Synonyms (NCBI Gene) Gene synonyms aliases
CILD41, GAR17
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD41
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587633197 ACTT>-,ACTTACTT Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
GO:0001578 Process Microtubule bundle formation IMP 24706950
GO:0001965 Function G-protein alpha-subunit binding IEA
GO:0005515 Function Protein binding IPI 24706950, 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611398 24846 ENSG00000270765
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ciliary dyskinesia Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 30649222, 30665704
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Otitis media Otitis Media with Effusion, Chronic otitis media, Recurrent otitis media ClinVar
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 36104176
Pain Associate 29156912