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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]