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10165 SLC25A13

10165

SLC25A13

solute carrier family 25 member 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 25 member 13

研究结论

Date Results Publications
2021-03-13 13:24:00 AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures. 32722104
2020-10-31 13:15:00 Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13. 31809266
2020-04-25 10:06:00 based on the human deleterious mutations in citrin(SLC25A13), we found a potential inhibitor of citrin that restricts cancerous phenotypes in cells. Collectively, our findings suggest that targeting citrin may be of benefit for cancer therapy. 31462712
2019-08-31 12:38:00 novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning 30703226
2019-08-24 12:19:00 USF1 acts as a positive transcription factor which binds to the basal promoter thus ensuring SLC25A13 gene expression in a wide range of tissues. The role of FOXA2 is different, working as an activator in hepatic cells. As a tumour suppressor, FOXA2 could be responsible for SLC25A13 high expression levels in liver and its downregulation in hepatocellular carcinoma. 30995827

名称对应

Type IDs
Synonymous ARALAR2, CITRIN, CTLN2
Gene
UniProtKB-ID: CMC2_HUMAN
UniprotKB: Q9UJS0
UniParc: UPI0000001663, UPI0000127BC3
EMBL: AC084368, AC096775, AC004458, AF118838, BC006566, Y17571, AC002450, AH009104, CH471091, AC002540, AJ496569
Ensembl: ENSG00000004864
KO: hsa:10165
Nucleutide sequences
EMBL-CDS: CAD43091.1, EAW76748.1, CAB62206.1, AAD38501.1, AAB67049.1, AAF28473.1, AAH06566.1, AAB70112.1
Ensembl_TRS: ENST00000416240, ENST00000265631
Protein sequencees
Ensembl_PRO: ENSP00000265631, ENSP00000400101
RefSeq: XP_016867154.1, XP_006715894.1, XP_016867152.1, NP_001153682.1, XP_016867153.1, XP_011514029.1, NP_055066.1
Others
UniRef100: UniRef100_Q9UJS0
UniRef90: UniRef90_Q9UJS0
UniRef50: UniRef50_Q9UJS0
UniGene: Hs.489190
CCDS: CCDS5645.1, CCDS55130.1

全选

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