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Table 2 Proteins of the SMCR8 interactome associated with CNS disease according to the Online Mendelian Inheritance in Man (OMIM) database

From: C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

GENE NAME DISEASE NAME SYMBOL OMIM #
ALS/FTD
 ATXN2 Amyotrophic lateral sclerosis 13 ALS13 183,090
 C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 FTDALS1 105,550
 DCTN1 Amyotrophic lateral sclerosis ALS 105,400
 FIG4 Amyotrophic lateral sclerosis 11 ALS11 612,577
 FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia ALS6 608,030
 MATR3 Amyotrophic lateral sclerosis 21 ALS21 606,070
 SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 FTDALS3 616,437
 TARDBP Amyotrophic lateral sclerosis 10 ALS10 612,069
OTHER NEURODEGENERATION DISEASES
 AIFM1 Combined oxidative phosphorylation deficiency 6 COXPD6 300,816
 ATXN2 Spinocerebellar ataxia 2 SCA2 183,090
 CTSD Ceroid lipofuscinosis, neuronal, 10 CLN10 610,127
 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant SMALED1 158,600
 EIF4G1 Parkinson disease 18 PARK18 614,251
 NOP56 Spinocerebellar ataxia 36 SCA36 614,153
 PARK7 Parkinson disease 7 PARK7 606,324
 PCNA Ataxia-telangiectasia-like disorder 2 ATLD2 615,919
 PUM1 Spinocerebellar ataxia 47 SCA47 617,931
 QARS Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy MSCCA 615,760
 RARS Leukodystrophy, hypomyelinating, 9 HLD9 616,140
 SPG20 Spastic paraplegia 20, autosomal recessive SPG20 275,900
 STUB1 Spinocerebellar ataxia, autosomal recessive, 16 SCAR16 615,768
 WNK1 Neuropathy, hereditary sensory and autonomic, 2A HSAN2A 201,300
OTHER NEUROLOGICAL CONDITIONS
 ADAR Aicardi-Goutieres syndrome 6 AGS6 615,010
 ADNP Helsmoortel-van der Aa syndrome HVDAS 615,873
 AIFM1 Cowchock syndrome COWCK 310,490
 AIMP1 Leukodystrophy, hypomyelinating, 3 HLD3 260,600
 AIMP2 Leukodystrophy, hypomyelinating, 17 HLD17 618,006
 ALDH18A1 Spastic paraplegia 9A, autosomal dominant SPG9A 601,162
 ALDH18A1 Spastic paraplegia 9B, autosomal recessive SPG9B 616,586
 ALDH3A2 Sjogren-Larsson syndrome SLS 270,200
 ARHGEF2 Neurodevelopmental disorder with midbrain and hindbrain malformations NEDMHM 617,523
 ATAD3A Harel-Yoon syndrome ATAD3A 612,316
 ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD CMT2DD 618,036
 CAD Epileptic encephalopathy, early infantile, 50 AR 616,457
 CDK5 Lissencephaly 7, with cerebellar hypoplasia LIS7 616,342
 CLTC Mental retardation, autosomal dominant 56 MRD56 617,854
 COPB2 Microcephaly 19, primary, autosomal recessive MCPH19 617,800
 DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity HBSL 615,281
 DCTN1 Neuronopathy, distal hereditary motor, 7B HMN7B 607,641
 DCTN1 Perry syndrome PERRYS 168,605
 DOCK7 Epileptic encephalopathy, early infantile, 23 AR 615,859
 DYNC1H1 Charcot-Marie-Tooth disease 2O CMT2O 614,228
 DYNC1H1 Mental retardation, autosomal dominant 13 MRD13 614,563
 EPRS Leukodystrophy, hypomyelinating, 15 HLD15 617,951
 FIG4 Polymicrogyria, bilateral temporooccipital BTOP 612,691
 FIG4 Charcot-Marie-Tooth disease 4 J CMT4J 611,228
 FKBP5 {Major depressive disorder and accelerated response to antidepressant drugs} MDD 608,516
 FMR1 Fragile X syndrome FRAX 300,624
 FMR1 Fragile X tremor/ataxia syndrome FXTAS 300,623
 GATAD2B Mental retardation, autosomal dominant 18 MRD18 615,074
 HCFC1 Mental retardation, X-linked 3 MRX3 309,541
 HNRNPH2 Mental retardation, X-linked, syndromic, Bain type MRXSB 300,986
 HPRT1 Lesch-Nyhan syndrome LNS 300,322
 HSD17B4 Perrault syndrome 1 PRLTS1 233,400
 HSPB1 Neuropathy, distal hereditary motor, type IIB HMN2B 608,634
 HSPB1 Charcot-Marie-Tooth disease 2F CMT2F 606,595
 HUWE1 Mental retardation, X-linked 17 MRX17 300,705
 HUWE1 Mental retardation, X-linked, syndromic, Turner type MRXST 300,706
 LAS1L Wilson-Turner syndrome WTS 309,585
 LMNA Charcot-Marie-Tooth disease 2B1 CMT2B1 605,588
 LRPPRC Leigh syndrome French-Canadian type LSFC 220,111
 MARS Charcot-Marie-Tooth disease 2 U CMT2U 616,280
 MTHFD1 Neural tube defects, folate-sensitive NTDFS 601,634
 NSUN2 Mental retardation, autosomal recessive 5 MRT5 611,091
 PDK3 Charcot-Marie-Tooth disease, X-linked dominant, 6 CMTX6 300,905
 PPP2R1A Mental retardation, autosomal dominant 36 MRD36 616,362
 PSMD12 Stankiewicz-Isidor syndrome STISS 617,516
 RANBP2 Encephalopathy, acute, infection-induced, 3 IIAE3 608,033
 SAMHD1 Aicardi-Goutieres syndrome 5 AGS5 612,952
 SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria D2L2AD 615,182
 SLC25A22 Epileptic encephalopathy, early infantile, 3 EIEE3 609,304
 SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA HSN1A 162,400
 TECR Mental retardation, autosomal recessive 14 MRT14 614,020
 THOC2 Mental retardation, X-linked 12 MRX12 300,957
 TUBB3 Cortical dysplasia, complex, with other brain malformations 1 CDCBM1 614,039
 TUBB4A Leukodystrophy, hypomyelinating, 6 HLD 612,438
 USP9X Mental retardation, X-linked 99 MRX99 300,919
 USP9X Mental retardation, X-linked 99, syndromic, female-restricted MRXS99F 300,968
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