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7249 TSC2

7249

TSC2

TSC complex subunit 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition TSC complex subunit 2

研究结论

Date Results Publications
2021-03-27 14:41:00 Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. 31927531
2021-03-13 13:16:00 TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant. 31176519
2020-12-19 13:38:00 Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes. 32604168
2020-12-12 13:22:00 Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. 32555378
2020-12-05 12:59:00 First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants. 32313033

名称对应

Type IDs
Synonymous LAM, PPP1R160, TSC4
Gene
UniProtKB-ID: TSC2_HUMAN, X5D7Q2_HUMAN, Q5HYF7_HUMAN, B3KWH7_HUMAN, H3BMQ0_HUMAN
UniprotKB: P49815, X5D7Q2, Q5HYF7, B3KWH7, H3BMQ0
UniParc: UPI000013C781, UPI00001695DA, UPI000178E06A, UPI0002466D32, UPI00017A7133, UPI0000E5923E, UPI0001914BFD, UPI00004C414A, UPI0001AE67A6, UPI0000140345, UPI000013CC38
EMBL: L48538, L48529, L48527, L48536, L48525, BC046929, L48532, L48543, L48545, L48542, L48534, L48546, L48517, AK299343, AK295672, AK125096, KJ535051, L48519, L48539, L48531, BC150300, AK295728, KJ535038, L48544, L48540, L48522, L48526, L48518, AC093513, BC025364, L48541, AB014460, BX647816, AK294548, AB210000, L48528, L48537, L48524, L48530, L48521, CH471112, L48523, X75621, L48533, KJ534955, AC005600, L48535
Ensembl: ENSG00000103197
KO: hsa:7249
Nucleutide sequences
EMBL-CDS: BAE06082.1, AAH46929.1, BAG58569.1, BAH11804.1, AAB41564.1, AAC34210.1, CAA53287.1, BAG61344.1, BAA32694.1, BAG58530.1, AAH25364.1, AHW56677.1, AHW56690.1, AAI50301.1, EAW85556.1, AHW56595.1, CAI46010.1, BAG54139.1
Ensembl_TRS: ENST00000382538, ENST00000219476, ENST00000439673, ENST00000350773, ENST00000401874, ENST00000642936, ENST00000644043, ENST00000439117, ENST00000568454
Protein sequencees
Ensembl_PRO: ENSP00000399232, ENSP00000344383, ENSP00000496262, ENSP00000384468, ENSP00000219476, ENSP00000371978, ENSP00000494514, ENSP00000406980, ENSP00000454487
RefSeq: NP_001107854.1, NP_001357333.1, XP_011520941.1, NP_066399.2, NP_001305756.1, NP_001070651.1, XP_024306181.1, XP_016879104.1, NP_001350457.1, XP_016879107.1, NP_001357334.1, XP_011520939.1, NP_001305760.1, NP_001305758.1, NP_001305761.1, NP_000539.2, XP_011520938.1, XP_011520940.2, XP_011520942.1
Others
UniRef100: UniRef100_Q5HYF7, UniRef100_P49815, UniRef100_B3KWH7, UniRef100_H3BMQ0
UniRef90: UniRef90_B3KWH7, UniRef90_Q5HYF7, UniRef90_P49815
UniRef50: UniRef50_P49815, UniRef50_Q5HYF7, UniRef50_B3KWH7
UniGene: Hs.90303
CCDS: CCDS81934.1, CCDS81933.1, CCDS10459.1, CCDS58408.1, CCDS10458.1, CCDS45384.1

全选

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