UniProtKB - Q8NHY3 (GA2L2_HUMAN)
Protein
GAS2-like protein 2
Gene
GAS2L2
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity3 Publications
GO - Molecular functioni
- actin filament binding Source: UniProtKB
- cytoskeletal anchor activity Source: UniProtKB
- G-protein alpha-subunit binding Source: Ensembl
- microtubule binding Source: UniProtKB
GO - Biological processi
- actin crosslink formation Source: GO_Central
- microtubule bundle formation Source: UniProtKB
- microtubule cytoskeleton organization Source: GO_Central
- negative regulation of microtubule depolymerization Source: UniProtKB
- positive regulation of G protein-coupled receptor signaling pathway Source: Ensembl
- protein localization to microtubule plus-end Source: UniProtKB
- regulation of cilium beat frequency involved in ciliary motility Source: UniProtKB
- regulation of microtubule polymerization or depolymerization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8NHY3 |
Names & Taxonomyi
Protein namesi | Recommended name: GAS2-like protein 2Alternative name(s): GAS2-related protein on chromosome 17 Growth arrest-specific protein 2-like 2 |
Gene namesi | Name:GAS2L2 Synonyms:GAR17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000270765.5 |
HGNCi | HGNC:24846, GAS2L2 |
MIMi | 611398, gene |
neXtProti | NX_Q8NHY3 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity
Cytoskeleton
- cytoskeleton 2 Publications
- stress fiber 2 Publications
- cilium basal body 1 Publication
Note: Colocalizes with ADORA2A at neuronal processes (By similarity). Colocalizes with and tracks the tips of microtubule plus ends (PubMed:24706950).By similarity1 Publication
Cytoskeleton
- ciliary basal body Source: Ensembl
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 41 (CILD41)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Absence of GAS2L2 results in ciliary orientation defect and affects performance of cilia.1 Publication
Disease descriptionA 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.
Related information in OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 369 – 370 | 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. 1 Publication | 2 | |
Mutagenesisi | 458 – 459 | 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. 1 Publication | 2 | |
Mutagenesisi | 503 – 504 | 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. 1 Publication | 2 | |
Mutagenesisi | 590 – 591 | 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. 1 Publication | 2 | |
Mutagenesisi | 795 – 796 | 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. 1 Publication | 2 |
Keywords - Diseasei
Ciliopathy, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 246176 |
MalaCardsi | GAS2L2 |
MIMi | 618449, phenotype |
OpenTargetsi | ENSG00000270765 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA134986846 |
Miscellaneous databases
Pharosi | Q8NHY3, Tdark |
Polymorphism and mutation databases
BioMutai | GAS2L2 |
DMDMi | 73919614 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000190444 | 1 – 880 | GAS2-like protein 2Add BLAST | 880 |
Proteomic databases
EPDi | Q8NHY3 |
PaxDbi | Q8NHY3 |
PeptideAtlasi | Q8NHY3 |
PRIDEi | Q8NHY3 |
ProteomicsDBi | 73788 [Q8NHY3-1] 73789 [Q8NHY3-2] |
PTM databases
iPTMneti | Q8NHY3 |
PhosphoSitePlusi | Q8NHY3 |
Expressioni
Tissue specificityi
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).2 Publications
Gene expression databases
Bgeei | ENSG00000270765, Expressed in right uterine tube and 72 other tissues |
ExpressionAtlasi | Q8NHY3, baseline and differential |
Genevisiblei | Q8NHY3, HS |
Organism-specific databases
HPAi | ENSG00000270765, Tissue enhanced (epididymis, fallopian tube) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ8NHY3
GO - Molecular functioni
- actin filament binding Source: UniProtKB
- G-protein alpha-subunit binding Source: Ensembl
- microtubule binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 128874, 37 interactors |
IntActi | Q8NHY3, 42 interactors |
MINTi | Q8NHY3 |
STRINGi | 9606.ENSP00000474529 |
Miscellaneous databases
RNActi | Q8NHY3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 32 – 159 | Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST | 128 | |
Domaini | 201 – 273 | GARPROSITE-ProRule annotationAdd BLAST | 73 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 438 – 880 | Interaction with ADORA2ABy similarityAdd BLAST | 443 |
Sequence similaritiesi
Belongs to the GAS2 family.Curated
Phylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000162866 |
InParanoidi | Q8NHY3 |
OMAi | QPCHFRN |
OrthoDBi | 1343422at2759 |
PhylomeDBi | Q8NHY3 |
TreeFami | TF323754 |
Family and domain databases
CDDi | cd00014, CH, 1 hit |
Gene3Di | 1.10.418.10, 1 hit 3.30.920.20, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR003108, GAR_dom IPR036534, GAR_dom_sf |
Pfami | View protein in Pfam PF00307, CH, 1 hit PF02187, GAS2, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 1 hit SM00243, GAS2, 1 hit |
SUPFAMi | SSF143575, SSF143575, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS51460, GAR, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NHY3-1) [UniParc]FASTAAdd to basket
Also known as: Beta
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI
60 70 80 90 100
DAANFLQVLE TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN
110 120 130 140 150
GAAQPGTFQA RDNVSNFIQW CRKEMGIQEV LMFETEDLVL RKNVKNVVLC
160 170 180 190 200
LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR RELALPPPDP SPPAPPRRQP
210 220 230 240 250
CHFRNLDQMV QSLVSHCTCP VQFSMVKVSE GKYRVGDSNT LIFIRILRNH
260 270 280 290 300
VMVRVGGGWD TLGHYLDKHD PCRCTSLSHK PGSFLKPPAP PVQHEVRVQD
310 320 330 340 350
GPSQTQPTMT ISRSQSPPPP VDWKTYTSSD RRLRPPTPSS PRPRRERGAG
360 370 380 390 400
TGASREMAPF LRCQERSLIP SWRQPTAGDS PPSPQSSSTQ KGRDPQCTSS
410 420 430 440 450
GKREERYPPE LPRGRIPTSW VHEETDSWGT DAGNPTPQRL RAIEATTKGI
460 470 480 490 500
SARGPSPLPR SFGPAECLGL RLPLRDEAKG AFFQFREPES VRSPTPVQGL
510 520 530 540 550
TKIPIRLPPA RPPTPGRSFP GATSGSPRTE LGRDPIPLRA VTVDLAGSTH
560 570 580 590 600
GDCSVEVRQE DQQLDIQVMA EARESWDLGL QEQEGRYTPL PLGGNKEQAI
610 620 630 640 650
YCSLEEEILG NMKLLEVRSA CPQGTRSGVI PRSGVYIPRL AGQWPEPGGP
660 670 680 690 700
YDKAIQELAQ GSPSLLKVDL EAWKAAPTGS PKPAVTPGPG SLKGKLGARQ
710 720 730 740 750
SGPRTKASLS AKGTHMRKVP PQGGQDCSAS TVSASPEAPT PSPLDPNSDK
760 770 780 790 800
AKACLSKGRR TLRKPKRVPS IYKLKLRPRI RPRRDHRPEK QPSRIPRPLA
810 820 830 840 850
YVFLGPARQP PKDRLLRAVL GSKGGEASRV DGASVGEEEE EGKEEKEPAA
860 870 880
PLESSPQPPE GLQPHWLNQA PLPPEEESWV
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B7B7 | A0A075B7B7_HUMAN | GAS2-like protein 2 | GAS2L2 | 864 | Annotation score: | ||
A0A0C4DGV2 | A0A0C4DGV2_HUMAN | GAS2-like protein 2 | GAS2L2 | 213 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059975 | 164 | A → V. Corresponds to variant dbSNP:rs11654604Ensembl. | 1 | |
Natural variantiVAR_053100 | 540 | A → T. Corresponds to variant dbSNP:rs12602590Ensembl. | 1 | |
Natural variantiVAR_053101 | 654 | A → V. Corresponds to variant dbSNP:rs3744374Ensembl. | 1 | |
Natural variantiVAR_062004 | 829 | R → W. Corresponds to variant dbSNP:rs56386706Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015497 | 187 – 213 | PPDPS…MVQSL → LPQPGPDGAEPCEPLHVPSA VLHGQSV in isoform 2. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_015498 | 214 – 800 | Missing in isoform 2. 1 PublicationAdd BLAST | 587 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF508785 mRNA Translation: AAM34265.1 AF508784 mRNA Translation: AAM34264.1 |
CCDSi | CCDS11298.1 [Q8NHY3-1] |
RefSeqi | NP_644814.1, NM_139285.3 [Q8NHY3-1] |
Genome annotation databases
Ensembli | ENST00000604641; ENSP00000474529; ENSG00000270765 [Q8NHY3-1] |
GeneIDi | 246176 |
KEGGi | hsa:246176 |
UCSCi | uc002hjv.2, human [Q8NHY3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF508785 mRNA Translation: AAM34265.1 AF508784 mRNA Translation: AAM34264.1 |
CCDSi | CCDS11298.1 [Q8NHY3-1] |
RefSeqi | NP_644814.1, NM_139285.3 [Q8NHY3-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128874, 37 interactors |
IntActi | Q8NHY3, 42 interactors |
MINTi | Q8NHY3 |
STRINGi | 9606.ENSP00000474529 |
PTM databases
iPTMneti | Q8NHY3 |
PhosphoSitePlusi | Q8NHY3 |
Polymorphism and mutation databases
BioMutai | GAS2L2 |
DMDMi | 73919614 |
Proteomic databases
EPDi | Q8NHY3 |
PaxDbi | Q8NHY3 |
PeptideAtlasi | Q8NHY3 |
PRIDEi | Q8NHY3 |
ProteomicsDBi | 73788 [Q8NHY3-1] 73789 [Q8NHY3-2] |
Protocols and materials databases
Antibodypediai | 73370, 72 antibodies |
DNASUi | 246176 |
Genome annotation databases
Ensembli | ENST00000604641; ENSP00000474529; ENSG00000270765 [Q8NHY3-1] |
GeneIDi | 246176 |
KEGGi | hsa:246176 |
UCSCi | uc002hjv.2, human [Q8NHY3-1] |
Organism-specific databases
CTDi | 246176 |
DisGeNETi | 246176 |
EuPathDBi | HostDB:ENSG00000270765.5 |
GeneCardsi | GAS2L2 |
HGNCi | HGNC:24846, GAS2L2 |
HPAi | ENSG00000270765, Tissue enhanced (epididymis, fallopian tube) |
MalaCardsi | GAS2L2 |
MIMi | 611398, gene 618449, phenotype |
neXtProti | NX_Q8NHY3 |
OpenTargetsi | ENSG00000270765 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA134986846 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0516, Eukaryota |
GeneTreei | ENSGT00940000162866 |
InParanoidi | Q8NHY3 |
OMAi | QPCHFRN |
OrthoDBi | 1343422at2759 |
PhylomeDBi | Q8NHY3 |
TreeFami | TF323754 |
Enzyme and pathway databases
PathwayCommonsi | Q8NHY3 |
Miscellaneous databases
BioGRID-ORCSi | 246176, 25 hits in 845 CRISPR screens |
ChiTaRSi | GAS2L2, human |
GenomeRNAii | 246176 |
Pharosi | Q8NHY3, Tdark |
PROi | PR:Q8NHY3 |
RNActi | Q8NHY3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000270765, Expressed in right uterine tube and 72 other tissues |
ExpressionAtlasi | Q8NHY3, baseline and differential |
Genevisiblei | Q8NHY3, HS |
Family and domain databases
CDDi | cd00014, CH, 1 hit |
Gene3Di | 1.10.418.10, 1 hit 3.30.920.20, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR003108, GAR_dom IPR036534, GAR_dom_sf |
Pfami | View protein in Pfam PF00307, CH, 1 hit PF02187, GAS2, 1 hit |
SMARTi | View protein in SMART SM00033, CH, 1 hit SM00243, GAS2, 1 hit |
SUPFAMi | SSF143575, SSF143575, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS51460, GAR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GA2L2_HUMAN | |
Accessioni | Q8NHY3Primary (citable) accession number: Q8NHY3 Secondary accession number(s): Q8NHY4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 30, 2005 |
Last sequence update: | October 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 130 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations