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54805 CNNM2

54805

CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition cyclin and CBS domain divalent metal cation transport mediator 2

研究结论

Date Results Publications
2020-12-19 13:44:00 Novel variant in the CNNM2 gene associated with dominant hypomagnesemia. 32997713
2019-04-20 10:52:00 This study determined the first crystal structures of the cyclic nucleotide-binding homology (CNBH) domain domains of CNNM2 and CNNM3 at 2.6 and 1.9 A resolutions. 30341174
2018-09-22 10:16:00 CNNM2 single nucleotide polymorphisms association with the risk of hypertension in Chinese Han population. 30180964
2017-12-23 10:09:00 In this large-scale, Han Chinese population-based genetic association study for genetic susceptibility to schizophrenia of a three-gene cluster region, AS3MT-CNNM2-NT5C2, two SNPs with independent effects, rs11191419 and rs11191514, were identified. Rs11191419 is located on the 5' (potential promoter) region of AS3MT, while rs11191514 is located in one of the introns of CNNM2. 27401531
2017-09-23 10:29:00 this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus 27004590

名称对应

Type IDs
Synonymous ACDP2, HOMG6, HOMGSMR
Gene
UniProtKB-ID: CNNM2_HUMAN
UniprotKB: Q9H8M5
UniParc: UPI000006E5E2, UPI0000231CA6, UPI0000231CA7
EMBL: AK000071, AK023479, AK023066, BC021222, AL356608, AF216962, AL139817
Ensembl: ENSG00000148842
KO: hsa:54805
Nucleutide sequences
EMBL-CDS: BAB14386.1, AAH21222.3, AAF86374.1, BAB14585.1, BAA90926.1
Ensembl_TRS: ENST00000433628, ENST00000369875, ENST00000369878
Protein sequencees
Ensembl_PRO: ENSP00000358894, ENSP00000358891, ENSP00000392875
RefSeq: NP_951058.1, XP_005269990.1, XP_006717971.1, NP_060119.3, NP_951059.1, XP_011538213.1
Others
UniRef100: UniRef100_Q9H8M5
UniRef90: UniRef90_Q3TWN3
UniRef50: UniRef50_Q3TWN3
UniGene: Hs.643509
CCDS: CCDS7543.1, CCDS44474.1, CCDS44475.1

全选

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