RecName: Full=snRNA-activating protein complex subunit 4; Short=SNAPc - Protein

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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. [Am J Hum Genet. 2023]
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, et al. Am J Hum Genet. 2023 Apr 6; 110(4):663-680. Epub 2023 Mar 24.
Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population. [J Rheumatol. 2014]
Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population.
Ma X, Liu Y, Zhang H, Qiu R, Zhao H, Xin Q, Shan S, Dang J, Li J, Yang Z, et al. J Rheumatol. 2014 Feb; 41(2):318-24. Epub 2013 Dec 15.
Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene. [Genes Immun. 2010]
Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.
Pointon JJ, Harvey D, Karaderi T, Appleton LH, Farrar C, Stone MA, Sturrock RD, Brown MA, Wordsworth BP. Genes Immun. 2010 Sep; 11(6):490-6. Epub 2010 May 13.

RefSeq genomic sequence
See the genomic reference sequence for the SNAPC4 gene (NG_051233.1).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the SNAPC4 gene.

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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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Reactome
reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

snRNA-activating protein complex subunit 4 isoform X4 [Homo sapiens]
snRNA-activating protein complex subunit 4 isoform X4 [Homo sapiens]
gi|578817794|ref|XP_006717307.1|

Protein
snRNA-activating protein complex subunit 4 isoform X3 [Homo sapiens]
snRNA-activating protein complex subunit 4 isoform X3 [Homo sapiens]
gi|2217378336|ref|XP_047279737.1|

Protein
Homo sapiens BEN domain containing 5 (BEND5), mRNA
Homo sapiens BEN domain containing 5 (BEND5), mRNA
gi|187828563|ref|NM_024603.2|

Nucleotide
Homo sapiens BEN domain containing 5, mRNA (cDNA clone MGC:19478 IMAGE:4336159),...
Homo sapiens BEN domain containing 5, mRNA (cDNA clone MGC:19478 IMAGE:4336159), complete cds
gi|33877679|gb|BC011804.2|

Nucleotide

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Protein