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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
POLR2J2 - RNA Polymerase II Subunit J2
Alias:
HRPB11B
RPB11b1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是RNA聚合酶II亚基11基因家族的成员,该家族在染色体7q22.1上包括三个基因在一个簇中,以及在染色体7p13上的一个假基因。这个家族的创始成员,DNA导向的RNA聚合酶II多肽J,已被证明编码RNA聚合酶II的亚基,该聚合酶负责在真核生物中合成信使RNA。这个基因座产生多种可变剪接的转录本,它们潜在地表达与DNA导向的RNA聚合酶II多肽J具有不同C端的不同异构体。大多数或所有变体都被剪接以在3'端包括额外的非编码外显子,这使得它们成为无义介导的衰减(NMD)的候选物。因此,目前尚不清楚这个基因座在活体内是否表达蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:246721
ENSEMBL:ENSG00000228049
HGNC:23208
UNIPROT:Q9GZM3
OMIM:609881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
246721
1
4
5618 bp
13.09
--
--
2
4
POLR2J2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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