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10060 ABCC9

10060

ABCC9

ATP binding cassette subfamily C member 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATP binding cassette subfamily C member 9

研究结论

Date Results Publications
2021-04-03 13:36:00 Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. 32622958
2021-03-27 14:40:00 Novel variants of ABCC9 in Japanese children with Cantu syndrome. 32198910
2021-01-16 15:57:00 Three-dimensional facial morphology in Cantu syndrome. 32100467
2020-01-11 10:44:00 ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9. 31575858
2017-11-18 12:50:00 Significant gene-based association between the ABCC9 gene and hippocampal sclerosis-aging appeared to be driven by a region in which a significant haplotype-based association. 28131462

名称对应

Type IDs
Synonymous ABC37, ATFB12, CANTU, CMD1O, SUR2
Gene
UniProtKB-ID: ABCC9_HUMAN, A0A024RAV7_HUMAN
UniprotKB: O60706, A0A024RAV7
UniParc: UPI000013D13F, UPI000013D141
EMBL: AF061316, AF061299, AF061320, AF061301, AF061313, AF061295, AF061306, AF061292, AF061302, AC008250, AF061322, AF061305, AF061315, AF061323, AF061307, AF061317, AF061290, AF061293, AF061321, AF061308, AF061304, AF061303, AF061312, AF061289, AF061310, AF061318, AF061298, AF061314, AF061300, AF061309, AF061294, CH471094, AF061319, AF061311, AC084806, AF061296, AF061291, AF061324, AF061297
Ensembl: ENSG00000069431
KO: hsa:10060
Nucleutide sequences
EMBL-CDS: AAC16057.1, AAC16058.1, EAW96453.1, EAW96456.1
Gene_ORFName: hCG_24790
Ensembl_TRS: ENST00000261200, ENST00000261201
Protein sequencees
Ensembl_PRO: ENSP00000261200, ENSP00000261201
RefSeq: NP_064693.2, XP_005253347.1, XP_011518847.1, NP_001364203.1, XP_005253345.1, XP_005253346.1, NP_005682.2, NP_001364202.1, XP_006719088.1
Others
UniRef100: UniRef100_O60706
UniRef90: UniRef90_O60706
UniRef50: UniRef50_O60706
UniGene: Hs.732701
CCDS: CCDS8693.1, CCDS8694.1

全选

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