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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
SRGAP2B - SLIT-ROBO Rho GTPase Activating Protein 2B
Alias:
SRGAP2L
SRGAP2P2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座编码SLIT-ROBO Rho GTP酶激活蛋白家族的一员。这个特有的人类基因座是由SLIT-ROBO Rho GTP酶激活蛋白2基因座的不完全分段复制产生的。与SLIT-ROBO Rho GTP酶激活蛋白2编码的蛋白质相比,编码的蛋白质缺乏GTP酶激活蛋白结构域。这个基因座编码的蛋白质的功能受到了质疑,因为已经发现了几个具有这个基因座同源性缺失的正常个体,并且这个基因座的表现似乎比类似的SLIT-ROBO Rho GTP酶激活蛋白2C(SRGAP2C)基因座低得多。SRGAP2C基因座已被证明在皮质神经元发育中编码与SLIT-ROBO Rho GTP酶激活蛋白2拮抗的蛋白质。[RefSeq,2012年12月提供]
Related ID:
NCBI:647135
ENSEMBL:ENSG00000196369
HGNC:35237
UNIPROT:P0DMP2
OMIM:614703
Basic Information
NCBI
Transcripts
Exons
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Mutations
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Reference
647135
12
10
208093 bp
Unknown
--
--
4
1
SRGAP2B Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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