Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 30062
MIM: 601881
HGNC: 18662
Ensembl: ENSG00000134438
Variants:
dbSNP: 30062
ClinVar: 30062
TCGA: ENSG00000134438
COSMIC: RAX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134438 | ENST00000256852 | Q9Y2V3 |
| ENSG00000134438 | ENST00000334889 | Q9Y2V3 |
| ENSG00000134438 | ENST00000555288 | G3V2C8 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34348662 | 2021 | Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity. | 1 |
| 34348662 | 2021 | Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity. | 1 |
| 28831107 | 2017 | Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. | 8 |
| 28831107 | 2017 | Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. | 8 |
| 22558175 | 2012 | Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. | 19 |
| 22736936 | 2012 | RAX and anophthalmia in humans: evidence of brain anomalies. | 14 |
| 22558175 | 2012 | Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. | 19 |
| 22736936 | 2012 | RAX and anophthalmia in humans: evidence of brain anomalies. | 14 |
| 20494911 | 2010 | Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. | 38 |
| 20494911 | 2010 | Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. | 38 |
| 19158959 | 2009 | Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. | 9 |
| 19397404 | 2009 | Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. | 1 |
| 20057906 | 2009 | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. | 13 |
| 19158959 | 2009 | Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. | 9 |
| 19397404 | 2009 | Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. | 1 |
Citation
Dessen P
RAX (retina and anterior neural fold homeobox)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54574/rax-(retina-and-anterior-neural-fold-homeobox)
