KEGG   VARIANT: 3181v1
Entry
3181v1                      Variant                                
Name
HNRNPA2B1 mutation
Type
Loss of function
Gene
HNRNPA2B1  heterogeneous nuclear ribonucleoprotein A2/B1 [KO:K13158]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600124
Network
nt06547  Spliceosome
Disease
H00704  Oculopharyngeal muscular dystrophy
H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Reference
  Authors
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP
  Title
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
  Journal
Nature 495:467-73 (2013)
DOI:10.1038/nature11922
Reference
  Authors
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Topf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Pereon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Bohm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bonnemann CG, Taylor JP
  Title
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
  Journal
Nat Commun 13:2306 (2022)
DOI:10.1038/s41467-022-30015-1
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