GAS2L3

gene
On this page

Summary

GAS2L3 (growth arrest specific 2 like 3, HGNC:27475) is a protein-coding gene on chromosome 12q23.1, encoding GAS2-like protein 3 (Q86XJ1). Cytoskeletal linker protein.

Enables actin binding activity and microtubule binding activity. Involved in actin cytoskeleton organization and microtubule cytoskeleton organization. Located in actin cytoskeleton and microtubule cytoskeleton.

Source: NCBI Gene 283431 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 104 total
  • MANE Select transcript: NM_174942

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:27475
Approved symbolGAS2L3
Namegrowth arrest specific 2 like 3
Location12q23.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000139354
Ensembl biotypeprotein_coding
OMIM617224
Entrez283431

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000266754, ENST00000537247, ENST00000539410, ENST00000547739, ENST00000547754, ENST00000548067, ENST00000548113, ENST00000550295, ENST00000552854, ENST00000851885, ENST00000851886, ENST00000851887, ENST00000851888, ENST00000851889, ENST00000851890, ENST00000851891, ENST00000851892, ENST00000851893, ENST00000851894, ENST00000851895

RefSeq mRNA: 4 — MANE Select: NM_174942 NM_001303130, NM_001303131, NM_001363672, NM_174942

CCDS: CCDS76590, CCDS9079

Canonical transcript exons

ENST00000547754 — 10 exons

ExonStartEnd
ENSE00000937761100618449100618587
ENSE00000937762100622275100622382
ENSE00002350286100623562100628288
ENSE00002370999100591736100591856
ENSE00002401819100573684100573785
ENSE00003467750100617744100617807
ENSE00003491585100594875100594922
ENSE00003555091100601638100601753
ENSE00003569688100600382100600550
ENSE00003694255100612000100612141

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 98.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7525 / max 218.5841, expressed in 1473 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1275796.16961420
1275800.8691509
1275810.5046217
1275840.209290

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
trigeminal ganglionUBERON:000167598.57gold quality
dorsal root ganglionUBERON:000004497.51gold quality
sural nerveUBERON:001548895.78gold quality
tibial nerveUBERON:000132395.22gold quality
epithelial cell of pancreasCL:000008393.29silver quality
ventricular zoneUBERON:000305393.10gold quality
mucosa of sigmoid colonUBERON:000499389.25gold quality
pancreatic ductal cellCL:000207988.98gold quality
buccal mucosa cellCL:000233688.58gold quality
adrenal tissueUBERON:001830387.54gold quality
colonic mucosaUBERON:000031787.20gold quality
secondary oocyteCL:000065586.03gold quality
ganglionic eminenceUBERON:000402386.03gold quality
visceral pleuraUBERON:000240184.56gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.56gold quality
kidney epitheliumUBERON:000481981.82gold quality
skin of hipUBERON:000155481.58gold quality
ileal mucosaUBERON:000033180.85gold quality
gall bladderUBERON:000211080.32gold quality
trabecular bone tissueUBERON:000248380.24gold quality
rectumUBERON:000105280.23gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047379.99gold quality
placentaUBERON:000198779.37gold quality
parietal pleuraUBERON:000240079.09silver quality
jejunal mucosaUBERON:000039978.30gold quality
stromal cell of endometriumCL:000225578.27gold quality
calcaneal tendonUBERON:000370177.25gold quality
oocyteCL:000002377.22gold quality
amniotic fluidUBERON:000017376.42gold quality
cartilage tissueUBERON:000241876.26silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting GAS2L3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692A100.0074.406850
HSA-MIR-126-5P100.0072.713180
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-3163100.0077.238605
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-366299.9973.825684
HSA-MIR-453499.9966.581907
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-428299.9975.366408
HSA-MIR-186-5P99.9970.833707
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-453199.9969.703181
HSA-MIR-477599.9875.006394
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-433-3P99.9869.371203
HSA-MIR-1213699.9872.815713
HSA-MIR-590-3P99.9674.346478
HSA-MIR-493-5P99.9672.472382
HSA-MIR-548AT-5P99.9670.832666

Literature-anchored findings (GeneRIF, showing 4)

  • tubulin acetylation drives GAS2-like 3 localization to MTs and may provide functional insights into the role of GAS2-like 3. (PMID:21561867)
  • GAS2L3, a target gene of the DREAM complex, is required for cytokinesis and genomic stability. (PMID:22344256)
  • show that the Gas2l3 protein is targeted for ubiquitin-mediated proteolysis by the APC/C(Cdh1) complex, but not by the APC/C(Cdc20) complex, and is phosphorylated by Cdk1 in mitosis (PMID:23469016)
  • show that the GAR domain of GAS2L3 is required for localization of GAS2L3 to the constriction zone (PMID:24571573)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriogas2l3ENSDARG00000045880
mus_musculusGas2l3ENSMUSG00000074802
rattus_norvegicusGas2l3ENSRNOG00000063755

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

GAS2-like protein 3Q86XJ1 (reviewed: Q86XJ1)

Alternative names: Growth arrest-specific protein 2-like 3

All UniProt accessions (4): Q86XJ1, F8VSB7, G3V1N3, H0YIT6

UniProt curated annotations — full annotation on UniProt →

Function. Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network.

Subunit / interactions. Interacts (via CH domain) with F-actin. Interacts (via C terminus) with microtubules. Interacts with MAPRE1.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Expressed in the pancreas, heart, liver, placenta, brain, skeletal muscle, kidney and lung.

Domain organisation. The GAR domain modulates the binding strength to each cytoskeletal network.

Similarity. Belongs to the GAS2 family.

RefSeq proteins (4): NP_001290059, NP_001290060, NP_001350601, NP_777602* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001715CH_domDomain
IPR003108GAR_domDomain
IPR036534GAR_dom_sfHomologous_superfamily
IPR036872CH_dom_sfHomologous_superfamily

Pfam: PF00307, PF02187

UniProt features (18 total): compositionally biased region 8, domain 2, modified residue 2, sequence variant 2, mutagenesis site 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86XJ1-F160.520.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 441, 570

Mutagenesis-validated functional residues (2):

PositionPhenotype
373–374no effect on microtubule localization and mapre1 binding; when associated with 461-n-n-462.
461–462no effect on microtubule localization and mapre1 binding; when associated with 373-n-n-374.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, FISCHER_G2_M_CELL_CYCLE, GOBP_ACTIN_FILAMENT_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_ACTIN_BINDING, BASAKI_YBX1_TARGETS_DN, FISCHER_DREAM_TARGETS

GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), actin cytoskeleton organization (GO:0030036), actin crosslink formation (GO:0051764)

GO Molecular Function (4): actin binding (GO:0003779), microtubule binding (GO:0008017), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), microtubule (GO:0005874), actin cytoskeleton (GO:0015629), microtubule cytoskeleton (GO:0015630), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoskeleton organization2
cytoskeleton2
microtubule-based process1
actin filament-based process1
actin filament organization1
cytoskeletal protein binding1
tubulin binding1
actin binding1
protein-containing complex binding1
binding1
intracellular anatomical structure1
cellular anatomical structure1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intracellular membraneless organelle1

Protein interactions and networks

STRING

900 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GAS2L3G2E3Q7L622611
GAS2L3WDR76Q9H967574
GAS2L3NCAPD2Q15021572
GAS2L3NUF2Q9BZD4559
GAS2L3CKAP2Q8WWK9552
GAS2L3DLGAP5Q15398549
GAS2L3PIMREGQ9BSJ6545
GAS2L3CKAP5Q14008524
GAS2L3PSRC1Q6PGN9523
GAS2L3DSCC1Q9BVC3522
GAS2L3GINS2Q9Y248516
GAS2L3KIF23Q02241506
GAS2L3CHAF1BQ13112488
GAS2L3CASP8AP2Q9UKL3479
GAS2L3CDCA2Q69YH5472

IntAct

27 interactions, top by confidence:

ABTypeScore
AURKBGAS2L3psi-mi:“MI:0915”(physical association)0.580
AURKBGAS2L3psi-mi:“MI:0403”(colocalization)0.580
MYL6GAS2L3psi-mi:“MI:0915”(physical association)0.560
ZIC1GAS2L3psi-mi:“MI:0915”(physical association)0.560
GAS2L3MYL6psi-mi:“MI:0915”(physical association)0.560
GAS2L3TSR2psi-mi:“MI:0915”(physical association)0.560
FNDC3BGAS2L3psi-mi:“MI:0915”(physical association)0.560
GAS2L3BIRC5psi-mi:“MI:0914”(association)0.560
BIRC5GAS2L3psi-mi:“MI:0914”(association)0.560
BIRC5GAS2L3psi-mi:“MI:0915”(physical association)0.560
CDCA8GAS2L3psi-mi:“MI:0915”(physical association)0.500
GAS2L3MFHAS1psi-mi:“MI:0407”(direct interaction)0.440
GAS2L3H1-1psi-mi:“MI:0915”(physical association)0.400
DND1RPSA2psi-mi:“MI:0914”(association)0.350
SLC4A1UPK3BL1psi-mi:“MI:0914”(association)0.350
DCTN1NACApsi-mi:“MI:2364”(proximity)0.270
GAS2L3KIF20Apsi-mi:“MI:0403”(colocalization)0.270
GAS2L3SPASTpsi-mi:“MI:0403”(colocalization)0.270
TSR2GAS2L3psi-mi:“MI:0915”(physical association)0.000
FNDC3BGAS2L3psi-mi:“MI:0915”(physical association)0.000

BioGRID (52): GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Proximity Label-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-RNA), GAS2L3 (Reconstituted Complex)

ESM2 similar proteins: A0JMZ4, D3YUB6, D4A0X3, E9Q555, F1MJR8, F1QB81, P0C2N5, P51957, P56715, Q0VF22, Q14699, Q1X8D7, Q29RJ0, Q2PFD7, Q2T9I9, Q3U8K7, Q3ULZ2, Q3UPF5, Q3UWW6, Q5DW34, Q5EXX3, Q5REF4, Q5SSZ5, Q5SW75, Q5T7B8, Q5XKL5, Q5ZLE9, Q60DG4, Q65Z40, Q6DFV3, Q6KAQ7, Q6NRK3, Q6NWW5, Q6PI47, Q76I76, Q76I79, Q7TSH4, Q7Z5K2, Q811D2, Q86XJ1

Diamond homologs: A0A1L8H8C0, A0A1L8HFX9, D3ZHV2, D3ZUE1, O43903, O94854, P11862, Q03001, Q3UWW6, Q5SSG4, Q69ZZ9, Q86XJ1, Q8JZP9, Q8NHY3, Q91ZU6, Q99501, Q9QXZ0, Q9UPN3, Q9W3Y4

SIGNOR signaling

1 interactions.

AEffectBMechanism
GAS2L3up-regulatesF-actin_assembly

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
M Phase530.0×3e-05
Cell Cycle, Mitotic521.9×7e-05
Cell Cycle516.4×1e-04

GO biological processes:

GO termPartnersFoldFDR
mitotic cytokinesis586.4×2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance86
Likely benign9
Benign5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1747 predictions. Top by Δscore:

VariantEffectΔscore
12:100573781:GCCTG:Gdonor_gain1.0000
12:100573783:CTGGT:Cdonor_loss1.0000
12:100573784:TG:Tdonor_gain1.0000
12:100573784:TGG:Tdonor_loss1.0000
12:100573785:GG:Gdonor_gain1.0000
12:100573786:G:GGdonor_gain1.0000
12:100573786:GTG:Gdonor_loss1.0000
12:100573787:T:Gdonor_loss1.0000
12:100594874:GAAAA:Gacceptor_gain1.0000
12:100594923:G:GGdonor_gain1.0000
12:100600379:TAGGT:Tacceptor_loss1.0000
12:100600380:A:AGacceptor_gain1.0000
12:100600380:A:Tacceptor_loss1.0000
12:100600381:G:GAacceptor_loss1.0000
12:100600381:G:GGacceptor_gain1.0000
12:100600381:GGT:Gacceptor_gain1.0000
12:100600381:GGTA:Gacceptor_gain1.0000
12:100600381:GGTAT:Gacceptor_gain1.0000
12:100600546:ATTAG:Adonor_loss1.0000
12:100600547:TTAG:Tdonor_loss1.0000
12:100600549:AGGT:Adonor_loss1.0000
12:100600550:GGTGA:Gdonor_loss1.0000
12:100600552:T:Gdonor_loss1.0000
12:100601634:TTAG:Tacceptor_loss1.0000
12:100601636:A:AGacceptor_gain1.0000
12:100601637:G:GGacceptor_gain1.0000
12:100601749:CAGGG:Cdonor_gain1.0000
12:100601750:AGGG:Adonor_gain1.0000
12:100601751:GGG:Gdonor_gain1.0000
12:100601751:GGGG:Gdonor_gain1.0000

AlphaMissense

4459 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:100612051:T:CF119L1.000
12:100612053:C:AF119L1.000
12:100612053:C:GF119L1.000
12:100623604:T:AW267R1.000
12:100623604:T:CW267R1.000
12:100623606:G:CW267C1.000
12:100623606:G:TW267C1.000
12:100600524:T:CL54P0.999
12:100600532:T:AW57R0.999
12:100600532:T:CW57R0.999
12:100612058:C:AA121D0.999
12:100612061:G:CR122P0.999
12:100612072:G:CA126P0.999
12:100612079:T:CF128S0.999
12:100617780:T:CL161P0.999
12:100617795:G:CR166P0.999
12:100622344:G:AG240R0.999
12:100622344:G:CG240R0.999
12:100622348:G:CR241P0.999
12:100622350:T:CY242H0.999
12:100622350:T:GY242D0.999
12:100622351:A:CY242S0.999
12:100622354:G:CR243P0.999
12:100622374:T:CF250L0.999
12:100622376:T:AF250L0.999
12:100622376:T:GF250L0.999
12:100622381:G:TR252I0.999
12:100623581:T:AV259D0.999
12:100623584:T:CM260T0.999
12:100623584:T:GM260R0.999

dbSNP variants (sampled 300 via entrez): RS1000024468 (12:100610771 CA>C,CAA), RS1000075347 (12:100621928 T>A,C), RS1000278444 (12:100589365 C>G), RS1000307210 (12:100573425 C>T), RS1000426562 (12:100622242 C>A,T), RS1000491900 (12:100596085 C>G,T), RS1000545936 (12:100603608 C>A,T), RS1000606224 (12:100603227 C>T), RS1000670293 (12:100615480 T>C), RS1000675736 (12:100615136 G>A), RS1000731666 (12:100622858 AGAATCAGTAT>A), RS1000740625 (12:100601434 C>G,T), RS1000912642 (12:100571842 T>C,G), RS1000915226 (12:100616685 G>A), RS1001102642 (12:100610111 A>G)

Disease associations

OMIM: gene MIM:617224 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST001827_1Squamous cell carcinoma1.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases expression, decreases methylation3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression3
Acetaminophenincreases expression, affects expression2
Cadmiumdecreases expression, increases abundance2
Estradioldecreases expression, increases expression, affects cotreatment2
Cyclosporinedecreases expression2
Cadmium Chloridedecreases expression, increases abundance2
aristolochic acid Idecreases expression1
GSK-J4increases expression1
FR900359decreases phosphorylation1
propionaldehydedecreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, increases expression1
perfluoro-n-nonanoic aciddecreases expression1
2-palmitoylglycerolincreases expression1
abrineincreases expression1
jinfukangaffects cotreatment, decreases expression1
incobotulinumtoxinAdecreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Dasatinibdecreases expression1
Resveratrolaffects cotreatment, increases expression1
Temozolomideincreases expression1
Sunitinibdecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Azathioprinedecreases expression1
Benzeneincreases expression1
Calcitrioldecreases expression, affects cotreatment1
Cisplatinaffects cotreatment, decreases expression1
Coumestrolaffects cotreatment, increases expression1
Doxorubicindecreases expression1
Formaldehydedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.