GAS2L2
entrez
246176
canonical
uniprot
Q8NHY3
canonical
ensembl
ENSG00000270765
resolver
ensp
ENSP00000474529
resolver
genesymbol
GAS2L2
resolver
genesymbol_syn
GAR17
resolver
hgnc
HGNC:24846
resolver
uniprot
Q8NHY4
resolver
uniprot_entry
GA2L2_HUMAN
resolver
uniprot_sec
Q8NHY4
resolver
amino_acid_sequence
MSQPAGGRRKPRTLGPPVCSIRPFKSSEQYLEAMKEDLAEWLRDLYGLDIDAANFLQVLETGLVLCQHANVVTDAALAFLAEAPAQAQKIPMPRVGVSCNGAAQPGTFQARDNVSNFIQWCRKEMGIQEVLMFETEDLVLRKNVKNVVLCLLELGRRAWRFGVAAPTLVQLEEEIEEEVRRELALPPPDPSPPAPPRRQPCHFRNLDQMVQSLVSHCTCPVQFSMVKVSEGKYRVGDSNTLIFIRILRNHVMVRVGGGWDTLGHYLDKHDPCRCTSLSHKPGSFLKPPAPPVQHEVRVQDGPSQTQPTMTISRSQSPPPPVDWKTYTSSDRRLRPPTPSSPRPRRERGAGTGASREMAPFLRCQERSLIPSWRQPTAGDSPPSPQSSSTQKGRDPQCTSSGKREERYPPELPRGRIPTSWVHEETDSWGTDAGNPTPQRLRAIEATTKGISARGPSPLPRSFGPAECLGLRLPLRDEAKGAFFQFREPESVRSPTPVQGLTKIPIRLPPARPPTPGRSFPGATSGSPRTELGRDPIPLRAVTVDLAGSTHGDCSVEVRQEDQQLDIQVMAEARESWDLGLQEQEGRYTPLPLGGNKEQAIYCSLEEEILGNMKLLEVRSACPQGTRSGVIPRSGVYIPRLAGQWPEPGGPYDKAIQELAQGSPSLLKVDLEAWKAAPTGSPKPAVTPGPGSLKGKLGARQSGPRTKASLSAKGTHMRKVPPQGGQDCSASTVSASPEAPTPSPLDPNSDKAKACLSKGRRTLRKPKRVPSIYKLKLRPRIRPRRDHRPEKQPSRIPRPLAYVFLGPARQPPKDRLLRAVLGSKGGEASRVDGASVGEEEEEGKEEKEPAAPLESSPQPPEGLQPHWLNQAPLPPEEESWV
uniprot
proteins
disease_involvement
DISEASE: 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}.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q5SSG4, ECO:0000269|PubMed:12584248, ECO:0000269|PubMed:24706950, ECO:0000269|PubMed:30665704}.
uniprot
proteins
mass_dalton
96520
uniprot
proteins
mutagenesis
MUTAGEN 369..370; /note="IP->NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 458-N--N-459, 503-N-N-504; 590-N-N-591 and 795-N-N-796."; /evidence="ECO:0000269|PubMed:24706950"; MUTAGEN 458..459; /note="LP->NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N--N-370; 503-N-N-504; 590-N-N-591 and 795-N-N-796."; /evidence="ECO:0000269|PubMed:24706950"; MUTAGEN 503..504; /note="IP->NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 590-N-N-591 and 795-N-N-796."; /evidence="ECO:0000269|PubMed:24706950"; MUTAGEN 590..591; /note="LP->NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 503-N-N-504 and 795-N-N-796."; /evidence="ECO:0000269|PubMed:24706950"; MUTAGEN 795..796; /note="IP->NN: Loss of microtubule-end localization, microtubule plus-end tracking, and decreases MAPRE1 binding; when associated with 369-N-N-370; 458-N-N-459; 503-N-N-504 and 590-N-N-591."; /evidence="ECO:0000269|PubMed:24706950
uniprot
proteins
protein_family
GAS2 family
uniprot
proteins
pubmed
12584248
uniprot
proteins
pubmed
23994616
uniprot
proteins
pubmed
24706950
uniprot
proteins
pubmed
30665704
uniprot
proteins
sequence_length
880
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12584248, ECO:0000269|PubMed:30665704}. Cell membrane {ECO:0000250|UniProtKB:Q5SSG4}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:24706950, ECO:0000269|PubMed:30665704}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:30665704}. 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}.
uniprot
proteins