例如："NBL1", "4681", "drought"
收藏
79581 SLC52A2

79581

SLC52A2

solute carrier family 52 member 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 52 member 2

研究结论

Date Results Publications
2020-08-01 13:20:00 Reports on 109 patients with a genetically confirmed diagnosis of riboflavin transporter deficiency are summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. [review] 30793323
2019-01-12 10:09:00 Whole exome sequencing identified a homozygous likely pathogenic variant in SCL52A3 (c.1223G>A; p.Gly408Asp). We report two new patients with riboflavin transporter deficiency, caused by mutations in two different riboflavin transporter genes. 29193829
2018-05-26 11:11:00 RFVT2 gene and protein expression levels were higher in DLD-1 and HT-29 compared to Caco2 cells. In tumor tissues of patients with CRC, RFVT2 gene expression levels were increased, while protein expression was reduced, with a small reduction in riboflavin amount. 29715086
2018-01-20 11:08:00 This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene. 29287867
2017-11-11 13:45:00 Eight mutations in SLC52a2 were associated with Brown-Vialetto-Van Laere syndrome. 29053833

名称对应

Type IDs
Synonymous BVVLS2, D15Ertd747e, GPCR41, GPR172A, PAR1, RFT3, RFVT2, hRFT3
Gene
UniProtKB-ID: S52A2_HUMAN
UniprotKB: Q9HAB3
UniParc: UPI000004470A
EMBL: BC002917, AY070774, AB522904, AK027888, AF205589, AK021918, AK291581, CH471162
Ensembl: ENSG00000185803, ENSG00000285112
KO: hsa:79581
Nucleutide sequences
EMBL-CDS: EAW82116.1, BAF84270.1, BAB13936.1, AAH02917.1, BAB55433.1, BAK79010.1, EAW82115.1, AAL59882.1
Ensembl_TRS: ENST00000645386, ENST00000643944, ENST00000644819, ENST00000402965, ENST00000527078, ENST00000530047, ENST00000329994, ENST00000644059, ENST00000645040, ENST00000646034
Protein sequencees
Ensembl_PRO: ENSP00000495049, ENSP00000333638, ENSP00000495874, ENSP00000495788, ENSP00000435820, ENSP00000494426, ENSP00000495046, ENSP00000496184, ENSP00000434728, ENSP00000385961
RefSeq: NP_001350049.1, NP_001240744.1, NP_001350047.1, XP_016869310.1, NP_001240745.1, NP_001350050.1, XP_016869311.1, NP_078807.1, NP_001350051.1, XP_011515602.1
Others
UniRef100: UniRef100_Q9HAB3
UniRef90: UniRef90_Q9HAB3
UniRef50: UniRef50_Q9NWF4
UniGene: Hs.6459, Hs.731710
CCDS: CCDS6423.1

全选

{{proteinIndex+1}}		 mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}
Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

 {{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

 {{author.size}}

目前还没有研究热点人员

© 2017 biocloud.net版权所有 ICP证：京10042835号