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, 312Â 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 152Â 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 |