GAS2L2
GAS2-like protein 2
Also known as: GA2L2_HUMAN, GAR17
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NHY3
- Gene
- GAS2L2
- Ensembl
- ENSG00000270765
- Chromosome
- 17
- Canonical length
- 880 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
880 residues, UniProt reviewed canonical sequence.
>Q8NHY3|GAS2L2
1 MSQPAGGRRK PRTLGPPVCS IRPFKSSEQY LEAMKEDLAE WLRDLYGLDI DAANFLQVLE
61 TGLVLCQHAN VVTDAALAFL AEAPAQAQKI PMPRVGVSCN GAAQPGTFQA RDNVSNFIQW
121 CRKEMGIQEV LMFETEDLVL RKNVKNVVLC LLELGRRAWR FGVAAPTLVQ LEEEIEEEVR
181 RELALPPPDP SPPAPPRRQP CHFRNLDQMV QSLVSHCTCP VQFSMVKVSE GKYRVGDSNT
241 LIFIRILRNH VMVRVGGGWD TLGHYLDKHD PCRCTSLSHK PGSFLKPPAP PVQHEVRVQD
301 GPSQTQPTMT ISRSQSPPPP VDWKTYTSSD RRLRPPTPSS PRPRRERGAG TGASREMAPF
361 LRCQERSLIP SWRQPTAGDS PPSPQSSSTQ KGRDPQCTSS GKREERYPPE LPRGRIPTSW
421 VHEETDSWGT DAGNPTPQRL RAIEATTKGI SARGPSPLPR SFGPAECLGL RLPLRDEAKG
481 AFFQFREPES VRSPTPVQGL TKIPIRLPPA RPPTPGRSFP GATSGSPRTE LGRDPIPLRA
541 VTVDLAGSTH GDCSVEVRQE DQQLDIQVMA EARESWDLGL QEQEGRYTPL PLGGNKEQAI
601 YCSLEEEILG NMKLLEVRSA CPQGTRSGVI PRSGVYIPRL AGQWPEPGGP YDKAIQELAQ
661 GSPSLLKVDL EAWKAAPTGS PKPAVTPGPG SLKGKLGARQ SGPRTKASLS AKGTHMRKVP
721 PQGGQDCSAS TVSASPEAPT PSPLDPNSDK AKACLSKGRR TLRKPKRVPS IYKLKLRPRI
781 RPRRDHRPEK QPSRIPRPLA YVFLGPARQP PKDRLLRAVL GSKGGEASRV DGASVGEEEE
841 EGKEEKEPAA PLESSPQPPE GLQPHWLNQA PLPPEEESWVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GAS2L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 15 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 15 nTPM
- choroid plexus: 8.5 nTPM
- skeletal muscle: 2.5 nTPM
- basal ganglia: 1.8 nTPM
- lung: 1.8 nTPM
- epididymis: 1.7 nTPM
Single-cell type
- respiratory ciliated cells: 55 nCPM
- fallopian tube ciliated cells: 55 nCPM
- endometrial ciliated cells: 27 nCPM
- epididymal efferent duct ciliated cells: 21 nCPM
- ependymal cells: 15 nCPM
- breast lactating cells: 6.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 13 nTPM
- midbrain: 4.9 nTPM
- spinal cord: 3.8 nTPM
- medulla oblongata: 3.4 nTPM
- pons: 2.1 nTPM
- basal ganglia: 1.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GAS2L2.
Disease | AllUniProt
Conditions GAS2L2 is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 41 (CILD41) MIM:618449
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 225 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.79
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.36
- DepMap mean gene effect
- -0.29
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin crosslink formation
- microtubule bundle formation
- negative regulation of microtubule depolymerization
- positive regulation of G protein-coupled receptor signaling pathway
- protein localization to microtubule plus-end
- regulation of cilium beat frequency involved in ciliary motility
- regulation of microtubule polymerization or depolymerization
Molecular functions
- actin filament binding
- cytoskeletal anchor activity
- G-protein alpha-subunit binding
- microtubule binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GAS2L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GAS2L2 as an antibody target. Whether an autoantibody or antibody against GAS2L2 could matter depends on whether native GAS2L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GAS2L2 is annotated at the cell surface, where native GAS2L2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GAS2L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...