PhenoModifier-Gene Detail

Gene "PLS3"

Found 1 record

Gene information

Gene symbol:

PLS3

See related:

Ensembl: ENSG00000102024, Gene ID: 5358

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	ELOVL1 TBC1D22A VPS26B SMARCB1 EEF1A2 FA2H NEK1 ARL13B HHATL SHMT2 RANGRF CYB5B NF1 EPS15 TCEA3 SGPP2 RAB6B PRKAG2 LTN1 USP41 VPS35 MRTO4 ENPP2 PIGG KDM5C TRMU GPD2 COQ2 NCBP2 ALG3 CSNK2A2 ARL1 PRMT8 VAC14 RAD54L PC RPS29 YME1L1 CCNA2 UBA3 GUF1 SCYL2 PRKG2 MTHFR SORT1 DUS2 OSBP RPL27 SLC11A2 ZFP42 LIPT1 HSPA4L GPCPD1 NFYB HIBCH MTHFD2L ATP23 PUS1 POMT2 MON1B CERK SLC3A1 UBE2V2 ROMO1 VPS29 SACM1L UBE3C POMT2 CNIH3 NMNAT1 RPS14 PPM1G GSK3B PPM1B DDX21 TTL MAEA USP10 PPCDC TGIF2 IPO9 RHOT2 CACNA1D RPS6 PPAT INPP5E NFU1 RAB7A ABHD5 SPRYD3 CS CS TBL1XR1 DCLRE1B FAU PEF1 GPD1L GLUD2 PFKFB2 CHMP1A RPUSD2 SHPRH GOLT1A CHCHD2 SHMT2 SLC13A4 ALG5 PPP6R3 DNPEP NAALAD2 HMGB2 FASN DDX59 KIF26A GPX7 ERCC6 ZDHHC17 RAB24 HSP90B1 show allhide
Negative interactions	ZMPSTE24 BMP2K YEATS4 KIAA1109 PFDN4 MAP3K2 TWF1 CAPZB ACTR6 LENG8 ATAD2 ATP1A1 CFDP1 BIN3 ADA RPS25 TKTL2 TUSC3 IDO1 BUD31 RPSA DNAJA4 PDCD6IP CORO2B ARHGAP35 RPL37A XPNPEP2 RPS8 USP14 GPX7 RPL9 GPT ELP2 ASH1L CTU1 STRIP2 ZDHHC6 ERGIC1 H3F3C XRN1 RPEL1 UBE2D3 RBM34 ELOF1 MRS2 ARHGAP29 TOM1 TRMT10B LEO1 RPS29 HIST2H4B SLC38A7 HGS OLA1 SLC15A4 VRK1 LSM12 PEX12 ATAD1 SIN3A RPS24 RRAGA TMED9 RPSA SC5D RPL35 RPS6KA1 MOCS3 PM20D1 CNN3 TTF2 BRDT UBE4B MRE11 UBA52 KATNA1 PAN3 VPS8 ELP3 RPS3A PPP2R5C PPIP5K1 KMO CDC73 AP2M1 TEAD4 SBF1 OTUD6A RPS28 MORF4L1 PGLS RPS4X NFYC RPS16 MAN1A2 EVI5 PAQR3 SEL1L IMMP2L NSUN2 RACK1 COPS5 MAPK7 MEF2A ME1 HLTF GLUD2 WDR45B GOLPH3L PLD1 TIPRL TAPT1 DENR SLC3A1 ATG9B PPAN ALDH16A1 DPYD PPP2CB PLAA GET4 ETFDH ARHGAP29 PMS1 RHEB SLC11A2 TESC TST AMD1 GSK3B show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Penetrance(1)

Modifier effect:

Altered incidence(1)

Detail：

Variant 1:

PLS3:variant

Gene:

PLS3

Genomic location:

dbSNP ID:

Target disease:

Spinal Muscular Atrophy(DOID_12377)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

Pedigree analysis

Effect:

Prevention of disease

Reference:

PMID18440926

Title:

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Species studied:

Human

Abstract:

Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby suggesting the influence of modifier genes. We discovered that unaffected SMN1-deleted females exhibit significantly higher expression of plastin 3 (PLS3) than their SMA-affected counterparts. We demonstrated that PLS3 is important for axonogenesis through increasing the F-actin level. Overexpression of PLS3 rescued the axon length and outgrowth defects associated with SMN down-regulation in motor neurons of SMA mouse embryos and in zebrafish. Our study suggests that defects in axonogenesis are the major cause of SMA, thereby opening new therapeutic options for SMA and similar neuromuscular diseases.