例如:"NBL1", "4681", "drought"
收藏
30062 RAX

30062

RAX

retina and anterior neural fold homeobox

protein-coding

Homo sapiens

基因描述

Type Description
Definition retina and anterior neural fold homeobox

研究结论

Date Results Publications
2019-03-23 10:23:00 combination of WES and homozygosity mapping identified a novel homozygous RAX mutation in a consanguineous family segregating with rarely reported asymmetrical coloboma. Clinical findings and genetic results support that RAX mutation is responsible for eye malformations. 28831107
2012-11-17 11:11:00 The three consanguineous Egyptian anophthalmia patients carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX. 22736936
2012-09-15 10:19:00 Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. 22558175
2010-06-30 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 20494911
2010-01-21 00:00:00 Mutations associated with recessive anophthalmos and sclerocornea. 14662654

名称对应

Type IDs
Synonymous MCOP3, RX
Gene
UniProtKB-ID: RX_HUMAN
UniprotKB: Q9Y2V3
UniParc: UPI000013CF2F, UPI0000192746
EMBL: BC051901, AB593018, AC067859, AF115392
Ensembl: ENSG00000134438
KO: hsa:30062
Nucleutide sequences
EMBL-CDS: AAH51901.1, BAJ83973.1, AAD23438.1
Ensembl_TRS: ENST00000334889, ENST00000256852
Protein sequencees
Ensembl_PRO: ENSP00000334813, ENSP00000256852
RefSeq: NP_038463.2
Others
UniRef100: UniRef100_Q9Y2V3
UniRef90: UniRef90_Q9Y2V3
UniRef50: UniRef50_Q9Y2V3
UniGene: Hs.278957
CCDS: CCDS11972.1

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