Version 5.4
| Homo sapiens Gene: RAX2 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Gene | IDBG-17256.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | RAX2 | ||||||||
| Gene Name | retina and anterior neural fold homeobox 2 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000173976 | ||||||||
| Encoded Proteins |
retina and anterior neural fold homeobox 2
retina and anterior neural fold homeobox 2
|
||||||||
| Protein Structure |
|
||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq, Jul 2008] |
||||||||
| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 19:3769089-3772221 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | p13.3 | ||||||||
| Transcripts |
|
||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Orthologs | |||||||||
| No orthologs found for this gene | |||||||||
| Cross-References | |||||||||
| SwissProt | Q96IS3 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 84839 | ||||||||
| UniGene | Hs.532691 | ||||||||
| RefSeq | XM_005259662 NM_032753 | ||||||||
| HUGO | HGNC:18286 | ||||||||
| OMIM | 610362 | ||||||||
| CCDS | CCDS12112 | ||||||||
| HPRD | 17508 | ||||||||
| IMGT | |||||||||
| EMBL | AC005777 AY211277 BC007284 BC018709 BC032512 | ||||||||
| GenPept | AAH07284 AAH18709 AAH32512 AAP41547 | ||||||||
| RNA Seq Atlas | 84839 | ||||||||