FlyBase Gene Report: Dmel\Smn

CEA with Smn^{T205I.Tag:FLAG}, Smn^f01109

(Praveen et al., 2012)

CEA with Smn^HMC03832

(Di Giorgio et al., 2017)

CEA with Smn^{T205I.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{D20V.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{F70S.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{V72G.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{G73R.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{I93F.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{Y107C.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{M194R.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y203C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G206S.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019, Gray et al., 2018)

CEA with Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA

(Gray et al., 2018)

CEA with Smn^{S201A.G206S.T:Zzzz\FLAG}

(Gray et al., 2018)

CEA with Smn^{L207Y,G210V.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Δ7S.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S193I.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S197P.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^{dsRNA.FL.UAS.WIZ}

CEA

(Chang et al., 2008)

Smn^{dsRNA.N.UAS.WIZ}

CEA

(Sen et al., 2011, Chang et al., 2008)

model of spinal muscular atrophy

CEA

(Timmerman and Sanyal, 2012)

Smn^{dsRNA.C.UAS.WIZ}

CEA

(Sen et al., 2011, Chang et al., 2008)

model of spinal muscular atrophy

CEA

(Timmerman and Sanyal, 2012)

Smn^73Ao

CEA

(Gupta et al., 2021, Shpargel et al., 2009, Chan et al., 2003)

CEA with Smn^f01109

(Chang et al., 2008)

Smn^B

CEA

(Gupta et al., 2021, Shpargel et al., 2009)

Smn^{T205I.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

CEA with Smn^X7, Smn^f01109

(Praveen et al., 2012)

Smn^JF02057

CEA

(Spring et al., 2019)

Smn^f05960

CEA

(Shpargel et al., 2009, Chang et al., 2008, Rajendra et al., 2007)

CEA with Smn^f01109

(Chang et al., 2008)

Smn^f01109

CEA with Smn^{T205I.Tag:FLAG}, Smn^X7

(Praveen et al., 2012)

CEA

(Shpargel et al., 2009, Chang et al., 2008, Rajendra et al., 2007)

CEA with Smn^73Ao

(Chang et al., 2008)

CEA with Smn^f05960

(Chang et al., 2008)

Smn^PL00733

CEA

(Shpargel et al., 2009)

Smn^{D20V.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{F70S.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{V72G.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{G73R.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{I93F.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{Y107C.Tag:FLAG}

CEA with Smn^X7

(Spring et al., 2019, Praveen et al., 2014)

Smn^{M194R.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^{Y203C.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^{G206S.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Gray et al., 2018, Praveen et al., 2014)

Smn^{G210V.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^{G210C.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019, Praveen et al., 2014)

Smn^HMC03832

CEA

(Li et al., 2020, Maccallini et al., 2020, Spring et al., 2019, Di Giorgio et al., 2017)

CEA with Smn^X7

(Di Giorgio et al., 2017)

Smn^E33

CEA

(Rajendra et al., 2007)

Smn^E2

CEA

(Rajendra et al., 2007)

Smn^{S201A.v.Tag:FLAG}

CEA

(Gray et al., 2018)

Smn^{Δ7S.v.Tag:FLAG}

CEA

(Gray et al., 2018)

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Δ7A.v.Tag:FLAG}

CEA

(Gray et al., 2018)

Smn^{S201A.G206S.T:Zzzz\FLAG}

CEA with Smn^X7

(Gray et al., 2018)

Smn^{Y208C.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021, Spring et al., 2019)

Smn^Δ

CEA

(Li et al., 2020)

Smn^{S193I.ΔMGLR.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{S197P.ΔMGLR.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204R.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{Y204H.v.Tag:FLAG}

CEA with Smn^X7

(Gupta et al., 2021)

Smn^{L207Y,G210V.Tag:FLAG}

SMN2; survival of motor neuron 2, centromeric

CEA with Smn^X7

(Gupta et al., 2021)

Potential Models Based on Orthology ( 5 )

Human Ortholog

Disease

Evidence

References

model of juvenile spinal muscular atrophy

IEA

(FlyBase, 2019-)

SMN1; survival of motor neuron 1, telomeric

IEA

(FlyBase, 2019-)

model of adult spinal muscular atrophy

IEA

(FlyBase, 2019-)

model of juvenile spinal muscular atrophy

IEA

(FlyBase, 2019-)

model of Werdnig-Hoffmann disease

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 10 )

Allele

Disease

Interaction

References

Smn^UAS.Tag:FLAG

ameliorates amyotrophic lateral sclerosis type 6

modeled by Hsap\FUS^{R518K.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^{R521C.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^UAS.Tag:HA

(Casci et al., 2019)

Smn^{dsRNA.N.UAS.WIZ}

is ameliorated by htl^UAS.cMa

(Sen et al., 2011)

is exacerbated by Gem3^ΔN.UAS

(Borg et al., 2015)

Smn^{dsRNA.C.UAS.WIZ}

is ameliorated by htl^UAS.cMa

(Sen et al., 2011)

is exacerbated by Gem3^ΔN.UAS

(Borg et al., 2015)

Smn^73Ao

is ameliorated by Atf6^c05057

(Chang et al., 2008)

is ameliorated by CG10561^f06260

(Chang et al., 2008)

is ameliorated by CG13775^f05549

(Chang et al., 2008)

is exacerbated by CG33172^f04448

(Chang et al., 2008)

is exacerbated by Eip75B^d09801

(Chang et al., 2008)

is exacerbated by ASPP^d05779

(Chang et al., 2008)

is exacerbated by Mad¹²

(Chang et al., 2008)

is ameliorated by Moe^e02369

(Chang et al., 2008)

is exacerbated by SK^d03336

(Chang et al., 2008)

is exacerbated by btl^f02864

(Chang et al., 2008)

is ameliorated by ctp^f02345

(Chang et al., 2008)

is ameliorated by mlt^e00818

(Chang et al., 2008)

is exacerbated by net^f04249

(Chang et al., 2008)

is exacerbated by spri^d05295

(Chang et al., 2008)

is exacerbated by wit^UAS.cMa

(Chang et al., 2008)

is exacerbated by wit^d02492

(Chang et al., 2008)

Smn^GL00581

exacerbates amyotrophic lateral sclerosis type 6

modeled by Hsap\FUS^{R518K.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^{R521C.UAS.Tag:HA}

(Casci et al., 2019)

modeled by Hsap\FUS^UAS.Tag:HA

(Casci et al., 2019)

Smn^f01109

is exacerbated by Mad¹²

(Chang et al., 2008)

is exacerbated by wit^UAS.cMa

(Chang et al., 2008)

Smn^HMC03832

is ameliorated by Tgs1^GD14932

(Maccallini et al., 2020)

Smn^NIG.16725R

exacerbates frontotemporal dementia and/or amyotrophic lateral sclerosis-1

modeled by Zzzz\poly-GR^PO-36.UAS

(Park et al., 2021)

Smn^Tub.EGFP

ameliorates motor neuron disease

modeled by WDR79^MB10832

(Di Giorgio et al., 2017)

Smn^Δ

SMN2; survival of motor neuron 2, centromeric

is ameliorated by CG10171^UAS.cLa

(Li et al., 2020)

is ameliorated by CG16984^UAS.cLa

(Li et al., 2020)

is ameliorated by Fas3^UAS.cLa

(Li et al., 2020)

is ameliorated by Pcyt2^UAS.cLa

(Li et al., 2020)

is ameliorated by Zmynd10^UAS.cLa

(Li et al., 2020)

Disease Associations of Human Orthologs (via DIOPT v8.0 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

12 of 15

601627

SPINAL MUSCULAR ATROPHY, TYPE III; SMA3

juvenile spinal muscular atrophy

SMN1; survival of motor neuron 1, telomeric

7 of 15

600354

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

esyN Network Diagram

Interactions Browser

View in Interactions Browser

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

Smn

two hybrid, anti tag coimmunoprecipitation, anti tag western blot, cosedimentation, confirmation by molecular weight

(Gupta et al., 2021, Hu et al., 2017.6.13, Praveen et al., 2014, Praveen et al., 2012, Chan et al., 2003)

Smn - Actn

anti tag coimmunoprecipitation, peptide massfingerprinting, anti bait coimmunoprecipitation, western blot, pull down

(Rajendra et al., 2007)

Smn - CG10126

(Guruharsha et al., 2011)

Smn - CG6984

anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot

(Guruharsha et al., 2011)

Smn - Cul1

(Gray et al., 2018)

Smn - GCC185

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - Gem3

anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation, western blot, experimental knowledge based, Identification by mass spectrometry, pull down, two hybrid

(Maccallini et al., 2020, Borg et al., 2016, Praveen et al., 2014, Guruharsha et al., 2011, Shpargel et al., 2009, Cauchi et al., 2008)

Smn - Gem4b

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - Glos

anti tag coimmunoprecipitation, Identification by mass spectrometry, anti tag western blot, western blot

(Maccallini et al., 2020, Matera et al., 2019, Lanfranco et al., 2017)

Smn - Nmdmc

anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography, two hybrid

(Guruharsha et al., 2011)

Smn - Rpp20

(Hua and Zhou, 2004)

Smn - SNRPG

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - Sbat

anti tag coimmunoprecipitation, anti tag western blot

(Lanfranco et al., 2017)

Smn - SkpA

anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot

(Gray et al., 2018)

Smn - SmB

anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry

(Gray et al., 2018)

Smn - SmD1

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmD2

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmD3

anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry

(Gray et al., 2018)

Smn - SmE

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - SmF

molecular sieving, molecular weight estimation by staining

(Chari et al., 2008)

Smn - Snup

anti bait coimmunoprecipitation, western blot

(Natalizio and Matera, 2013)

Smn - Tgs1

anti tag coimmunoprecipitation, Identification by mass spectrometry

(Maccallini et al., 2020)

Smn - U2A

anti tag coimmunoprecipitation, anti tag western blot

(Guruharsha et al., 2011)

Smn - Vlet

(Lanfranco et al., 2017)

Smn - icln

x-ray crystallography, electron tomography

(Grimm et al., 2013)

Smn - msk

anti tag coimmunoprecipitation, western blot

(Natalizio and Matera, 2013)

Smn - slmb

anti tag coimmunoprecipitation, western blot, anti tag western blot, Identification by mass spectrometry

(Gray et al., 2018)

Smn - α-PheRS

(Guruharsha et al., 2011)

Smn - β-PheRS