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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
CNNM2 - Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2
Alias:
ACDP2
HOMG6
HOMGSMR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个古老的保守结构域含有蛋白质家族的成员。这个蛋白质家族的成员包含一个细胞周期盒基序,并与细胞周期蛋白具有结构相似性。编码的蛋白质可能在镁稳态中扮演重要角色,通过调节上皮细胞对Mg2+的运输和肾重吸收。这个基因的突变与肾镁缺乏症有关。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[由RefSeq提供,2011年12月]
Related ID:
NCBI:54805
ENSEMBL:ENSG00000148842
HGNC:103
UNIPROT:Q9H8M5
OMIM:607803
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54805
3
8
171929 bp
96.62
307
3
8
7
CNNM2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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No Data Found!
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