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Table 3 Yeast-prion-like genes genetically linked to neurological diseases in humansa

From: The evolutionary scope and neurological disease linkage of yeast-prion-like proteins in humans

Ensembl gene ID Name NQP ?b Prion prediction ?b Neurodegenerative ?c Diseases linked to gene (with OMIM numbers)
Nucleic-acid binding/Transcription factor (PC00171, PC00218)
ENSG00000104973 MED25, Mediator complex subunit 25 X -- U Charcot-Marie-Tooth disease, type 2B2, #605589
ENSG00000112592 TBP, TATA box binding protein X X U Spinocerebellar ataxia 17, #607136
ENSG00000204842 ATXN2, Ataxin 2 X -- U Amyotrophic lateral sclerosis, susceptibility to, 13, #183090;
Parkinson disease, late-onset, susceptibility to, #168600;
Spinocerebellar ataxia 2, #183090
ENSG00000085224 ATRX, Alpha thalassemia/mental retardtn. syndrome X-linked X X -- Mental retardation-hypotonic facies syndrome, X-linked, #309580
ENSG00000089280 FUS RNA binding protein X X U Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, #608030;
Tremor, hereditary essential, 4, #614782
ENSG00000100888 CHD8, Chromodomain helicase DNA binding protein 8 X -- -- Autism, susceptibility to, 18, #615032
ENSG00000160299 PCNT, Pericentrin X -- -- Microcephalic osteodysplastic primordial dwarfism, type II, #210720
ENSG00000182944 EWSR1, EWS RNA-binding protein 1 X X -- Neuroepithelioma, #612219
ENSG00000111752 PHC1, Polyhomeotic homolog 1 X X -- Microcephaly 11, primary, autosomal recessive, #615414
ENSG00000198026 ZNF335, Zinc finger protein 335 X -- -- Microcephaly, #615095
ENSG00000052850 ALX4, ALX homeobox 4 + -- -- Craniosynostosis 5, #615529
ENSG00000066427 ATXN3, Ataxin 3 X -- U Machado-Joseph disease, #109150
ENSG00000140521 POLG, Polymerase (DNA directed), © X -- U Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), #607459
ENSG00000156876 SASS6, SAS-6 centriolar assembly protein + -- -- Microcephaly 14, primary, autosomal recessive, #616402
ENSG00000169083 AR, Androgen receptor X -- U Spinal and bulbar muscular atrophy of Kennedy, #313200
Cytoskeletal protein (PC00085)
ENSG00000066279 ASPM, abnormal spindle microtubule assembly X X -- Microcephaly 5, #608716
ENSG00000131018 SYNE1, Spectrin repeat containing nuclear envelope 1 X -- U Emery-Dreifuss muscular dystrophy 4, autosomal dominant, #612998;
Spinocerebellar ataxia, autosomal recessive 8, #610743
ENSG00000151914 DST, Dystonin X -- -- Neuropathy, hereditary sensory and autonomic, type VI, #614653
ENSG00000008056 SYN1, synapsin I X -- -- X-linked epilepsy, #300491
ENSG00000133454 MYO18B, Myosin XVIIIB X -- -- Klippel-Feil syndrome 4, autosomal recessive, with myopathy, #616549
ENSG00000166813 KIF7, Kinesin family member 7 X -- -- Joubert syndrome, etc., #200990
ENSG00000178209 PLEC, Plectin X -- CM various muscular dystrophy, #226670, #613723
ENSG00000277586 NEFL, Neurofilament light polypeptide -- X U Charcot-Marie-Tooth disease, #607734, #607684
ENSG00000054654 SYNE2, Spectrin repeat containing, nuclear envelope 2 + -- CM Emery-Dreifuss muscular dystrophy 5, #612999
ENSG00000100345 MYH9, Myosin, heavy chain 9, non-muscle + -- -- Macrothrombocytopenia and progressive sensorineural deafness, #600208
ENSG00000138778 CENPE, Centromere protein E, 312 kDa + -- -- Microcephaly 13, primary, autosomal recessive, #616051
ENSG00000198947 DMD, Dystrophin + -- CM Becker muscular dystrophy, #300376; Duchenne muscular dystrophy, #310200
Transporter (PC00227)
ENSG00000157388 CACNA1D, Ca channel, voltage-depdt., L type, 〈 1D subunit -- X -- Primary aldosteronism, #615474
Sinoatrial node dysfunction and deafness, #614896
ENSG00000198734 F5, Coagulation factor V (proaccelerin, labile factor) -- X -- Suscept. to stroke, #601367
ENSG00000007314 SCN4A, Na channel, voltage gated, type IV 〈 subunit -- X -- Hyperkalemic periodic paralysis, type 2, #170500, #613345;
Myotonia congenita, atypical, acetazolamide-responsive, #608390; Paramyotonia congenita, #168300
ENSG00000036828 CASR, Calcium-sensing receptor X -- -- Idiopathic generalized epilepsy, #612899
ENSG00000141837 CACNA1A, Ca channel, voltage-depdt., P/Q type, 〈 1A subunit X -- U Spinocerebellar ataxia 6, #183086;
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, #141500;
Episodic ataxia, type 2, #108500;
ENSG00000164588 HCN1, Hyperpolariztn. activated cyclic-nucleotide-gated K channel 1 X -- -- Epileptic encephalopathy, early infantile, 24, #615871
Others
ENSG00000116001 TIA1, TIA1 cytotoxic granule-associated RNA binding protein + X CM Welander distal myopathy, #604454
ENSG00000157212 PAXIP1, PAX interacting protein 1 X X CN Alzheimer disease, susceptibility to, #104300
ENSG00000162928 PEX13, Peroxisomal biogenesis factor 13 -- X -- Peroxisome biogenesis disorder 11A (Zellweger), #614883
ENSG00000197386 HTT, Huntingtin X X U Huntington disease, #143100
ENSG00000204120 GIGYF2, GRB10 interacting GYF protein 2 X -- U Parkinson disease 11, #607688
ENSG00000103995 CEP152, Centrosomal protein 152 kDa X -- -- Microcephaly 9, primary, autosomal recessive, #614852
ENSG00000114354 TFG, TRK-fused gene X X U Hereditary motor and sensory neuropathy, Okinawa type, #604484;
Spastic paraplegia 57, autosomal recessive, #615658
ENSG00000120948 TARDBP, TAR DNA binding protein -- X U Amyotrophic lateral sclerosis 10, with or without FTD, #612069;
Frontotemporal lobar degeneration, TARDBP-related, #612069
ENSG00000122566 HNRNPA2B1, Heterogen. nuclear ribonucleoprotein A2B1d -- X CNd Inclusion body myopathy with early-onset Paget disease, #615422
ENSG00000135486 HNRNPA1, Heterogeneous nuclear ribonucleoprotein A1d -- X Ud Amyotrophic lateral sclerosis 20, #615426;
Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3, #615424
ENSG00000136352 NKX2-1, NK2 homeobox 1 X -- -- Chorea, hereditary benign, #118700;
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, #610978
ENSG00000145868 FBXO38, F-box protein 38 X -- U Neuronopathy, distal hereditary motor, type IID, #615575
ENSG00000152795 HNRNPDL, Heterogeneous nuclear ribonucleoprotein D-like -- X CM Limb-girdle muscular dystrophy, type 1G, #609115
ENSG00000154118 JPH3, Junctophilin 3 -- X CN Huntington disease-like 2, #606438
ENSG00000168000 BSCL2, Berardinelli-Seip congenital lipodystrophy 2 (seipin) -- X U Encephalopathy, progressive, with or without lipodystrophy, #615924;
Neuropathy, distal hereditary motor, type VA, #600794;
Silver spastic paraplegia syndrome, #270685
ENSG00000186472 PCLO, Piccolo presynaptic cytomatrix protein X -- U Pontocerebellar hypoplasia, type 3, #608027
ENSG00000269335 IKBKG, Inhibitor of | light polypeptide B-cell gene enhancer, kinase © X -- -- Incontinentia pigmenti, #308300
ENSG00000027075 PRKCH, Protein kinase C, eta -- X -- Cerebral infarction, susceptibility to, #601367
ENSG00000060237 WNK1, WNK lysine deficient protein kinase 1 X X U Neuropathy, hereditary sensory and autonomic, type II, #201300
ENSG00000074047 GLI2, GLI family zinc finger 2 + -- -- Holoprosencephaly-9, #610829
ENSG00000111676 ATN1, Atrophin 1 X X U Dentatorubro-pallidoluysian atrophy, #125370
ENSG00000124788 ATXN1, Ataxin 1 X X U Spinocerebellar ataxia 1, #164400
ENSG00000127838 PNKD, Paroxysmal nonkinesigenic dyskinesia -- X -- Paroxysmal nonkinesigenic dyskinesia, #118800
ENSG00000148356 LRSAM1, Leucine rich repeat and sterile motif containing 1 X -- U Charcot-Marie-Tooth disease, axonal, type 2P, #614436
ENSG00000163635 ATXN7, Ataxin7 X -- U Spinocerebellar ataxia 7, #164500
ENSG00000164342 TLR3, Toll-like receptor 3 + -- -- Herpes simplex encephalitis, susceptibility to, 2 #613002
ENSG00000188021 UBQLN2, Ubiquilin 2 + -- U Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, #300857
  1. aThe genes are grouped according to the three most common PANTHER protein classes [48]. In making these listings, the four organisms with very high rates of yeast-prion-like proteins (see Table 1) are not considered
  2. bNQPs are N/Q-rich proteins as defined. In the ‘NQP?’ column, genes which encode an NQP with LPS P-value <1e-10 are labelled with an ‘X’ , those with P-value otherwise <1e-08 are labelled with a ‘+’ sign. If the gene has an algorithmic prion prediction, it is labelled with an ‘X’ in the ‘Prion Prediction?’ column
  3. cGenes that are in the UniProt neurodegenerative list are labelled ‘U’. To other labels arise from curation of the scientific literature: those that were determined as neurodegeneration-linked genes are labelled ‘CN’ , whereas those that are specifically linked to muscular degeneration are labelled ‘CM’
  4. dThese two were identified as linked to neurodegenerative illnesses after a biased screen for proteins with prion-like domains. However, they have previously identified links to neurological illnesses. Removal of these two cases found in such screens (hnRNPA2B1 and hnRNPA1, which are linked to ALS and other muscular degeneration [25]) does not affect the calculations. Also, these two genes have previously discovered genetic linkages to neurodegenerative disorders [50, 51]