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6558 SLC12A2

6558

SLC12A2

solute carrier family 12 member 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 12 member 2

研究结论

Date Results Publications
2021-03-20 13:23:00 A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism. 32039487
2021-02-20 13:32:00 Expression of Cl(-) channels/transporters in nasal polyps. 32333139
2021-01-02 12:52:00 SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. 32658972
2020-10-03 12:55:00 Does the circadian clock make RPE-mediated ion transport ""tick"" via SLC12A2 (NKCC1)? 31441327
2020-07-25 10:44:00 study suggests that variants affecting exon 21 of the SLC12A2 transcript are responsible for hereditary hearing loss in humans 32294086

名称对应

Type IDs
Synonymous BSC, BSC2, NKCC1, PPP1R141
Gene
UniProtKB-ID: S12A2_HUMAN, B7ZM24_HUMAN, Q53ZR1_HUMAN
UniprotKB: P55011, B7ZM24, Q53ZR1
UniParc: UPI000013541A, UPI0001917058, UPI000002B309
EMBL: CH471062, BC144221, BC146839, AF439152, AY280459, U30246
Ensembl: ENSG00000064651
KO: hsa:6558
Nucleutide sequences
EMBL-CDS: AAC50561.1, AAL32454.1, AAI46840.1, AAI44222.1, AAP33906.1, EAW62393.1, EAW62394.1
Gene_ORFName: hCG_27034
Ensembl_TRS: ENST00000262461, ENST00000343225
Protein sequencees
Ensembl_PRO: ENSP00000340878, ENSP00000262461
RefSeq: NP_001037.1, XP_016865260.1, NP_001243390.1, XP_011541890.1
Others
UniRef100: UniRef100_P55011, UniRef100_B7ZM24
UniRef90: UniRef90_P55011, UniRef90_P55011-3
UniRef50: UniRef50_P55011, UniRef50_P55011-3
UniGene: Hs.162585, Hs.712970
CCDS: CCDS4144.1, CCDS58965.1

全选

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研究热度

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