例如："NBL1", "4681", "drought"
收藏
2780 GNAT2

2780

GNAT2

G protein subunit alpha transducin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein subunit alpha transducin 2

研究结论

Date Results Publications
2020-07-11 10:46:00 The cone mosaic in GNAT2-ACHM (GNAT2-achromatopsia) is relatively well preserved, potentially allowing for a wide therapeutic window for cone-directed interventions. 32203983
2020-04-04 11:39:00 Study identified a total 22 different potentially Achromatopsia-causing variants, of which 12 are novel. The mutation spectrum also includes a novel copy number variation, a heterozygous duplication of exon 4, of which the breakpoint matches exactly that of the previously reported exon 4 deletion. 31058429
2014-03-15 12:43:00 The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). 23362848
2013-06-22 12:10:00 Single nucleotide polymorphisms in GNAT2 gene is associated with obesity. 23563607
2011-09-17 10:14:00 Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. 21267001

名称对应

Type IDs
Synonymous ACHM4, GNATC
Gene
UniProtKB-ID: GNAT2_HUMAN, Q5T697_HUMAN
UniprotKB: P19087, Q5T697
UniParc: UPI000000124D
EMBL: BT009844, D10384, Z18859, AF493909, CH471122, BC000233
Ensembl: ENSG00000134183
KO: hsa:2780
Nucleutide sequences
EMBL-CDS: BAA01211.1, AAH00233.1, AAM12623.1, CAA79310.1, EAW56394.1, EAW56395.1, AAP88846.1
Gene_ORFName: hCG_40256
Ensembl_TRS: ENST00000351050
Protein sequencees
Ensembl_PRO: ENSP00000251337
RefSeq: NP_001364224.1, NP_005263.1, NP_001366161.1
Others
UniRef100: UniRef100_P19087
UniRef90: UniRef90_P19087
UniRef50: UniRef50_P04695
UniGene: Hs.36973
CCDS: CCDS803.1

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