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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
CCN5 - Cellular Communication Network Factor 5
Alias:
CT58
WISP2
CTGF-L
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码WNT1可诱导信号通路(WISP)蛋白质亚家族的一员,属于结缔组织生长因子(CTGF)家族。WNT1是一类介导多种发育过程的富含半胱氨酸、糖基化的信号蛋白家族成员。CTGF家族成员具有四个保守的富含半胱氨酸结构域:胰岛素样生长因子结合域、von Willebrand因子C模块、血栓素域和C端半胱氨酸结样(CT)结构域。编码的蛋白质缺乏与二聚化和肝素结合相关的CT结构域。它与小鼠蛋白质在氨基酸水平上有72%的同一性。这个基因可能是与恶性转化相关的WNT1信号通路中的下游基因。其在结肠癌中的表达减少,而其他两个WISP成员在结肠癌中过表达。它在骨组织中高表达,可能在对骨转换的调节中扮演重要角色。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8839
ENSEMBL:ENSG00000064205
HGNC:12770
UNIPROT:O76076
OMIM:603399
Basic Information
NCBI
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Length
MW (kDa)
Mutations
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Reference
8839
3
4
12951 bp
26.82
7
--
4
7
CCN5 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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