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6578 SLCO2A1

6578

SLCO2A1

solute carrier organic anion transporter family member 2A1

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier organic anion transporter family member 2A1

研究结论

Date Results Publications
2021-02-06 13:55:00 [Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene]. 33397021
2021-01-09 13:34:00 A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy. 33166338
2020-10-24 13:57:00 Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review. 31196708
2020-02-08 10:30:00 A novel SLCO2A1 compound heterozygous mutation of p.I284V and p.C459R was identified in two PHO patients in a chinese family. 31004291
2019-05-18 10:41:00 The expression of SLCO2A1 was observed in one of four patients with chronic enteropathy associated with SLCO2A1 (CEAS) and in all 29 patients with Crohn's Disease. The three with CEAS without SLCO2A1 expression had a homozygous splice-site mutation in SLCO2A1. The remaining one CEAS patient with positive expression of SLCO2A1 had compound heterozygous mutations. 30400730

名称对应

Type IDs
Synonymous MATR1, OATP2A1, PGT, PHOAR2, SLC21A2
Gene
UniProtKB-ID: SO2A1_HUMAN
UniprotKB: Q92959
UniParc: UPI000013F0AD
EMBL: AF056732, AF056727, AF056723, AF056729, AF056728, BC051347, AF056731, AF056726, AF056730, AF056725, CH471052, U70867, AF056724, AF056720, AF056722, AF056721, AF056719, BC041140
Ensembl: ENSG00000174640
KO: hsa:6578
Nucleutide sequences
EMBL-CDS: EAW79156.1, AAH51347.1, AAC62004.1, AAH41140.2, AAC09469.1
Ensembl_TRS: ENST00000310926
Protein sequencees
Ensembl_PRO: ENSP00000311291
RefSeq: XP_016862566.1, XP_024309489.1, NP_005621.2
Others
UniRef100: UniRef100_Q92959
UniRef90: UniRef90_Q92959
UniRef50: UniRef50_Q92959
UniGene: Hs.518270
CCDS: CCDS3084.1

全选

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