Entrez Gene ID | 10265 |
---|---|
Official Gene Symbol | IRX5 (GeneCards) |
Full name | iroquois homeobox 5 |
Location | 16q12.2 |
Other ids | Vega : OTTHUMG00000133201 MIM : 606195 HGNC : HGNC:14361 Ensembl : ENSG00000176842 |
Other names | HMMS, IRXB2, IRX-2a |
Summary | This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
19425 | 10265 | IRX5 | 16 | 55044398 | 55044398 | Asymptomatic | HiSeq X Ten |
19469 | 10265 | IRX5 | 16 | 55258592 | 55258592 | Asymptomatic | HiSeq X Ten |
19499 | 10265 | IRX5 | 16 | 55162102 | 55162102 | Asymptomatic | HiSeq X Ten |
19523 | 10265 | IRX5 | 16 | 55351081 | 55351081 | Asymptomatic | HiSeq X Ten |
19559 | 10265 | IRX5 | 16 | 55115664 | 55115664 | Asymptomatic | HiSeq X Ten |
19616 | 10265 | IRX5 | 16 | 55164892 | 55164892 | Asymptomatic | HiSeq X Ten |
19758 | 10265 | IRX5 | 16 | 55036328 | 55036328 | Xeroderma Pigmentosum | HiSeq X Ten |
28170 | 10265 | IRX5 | 16 | 55148080 | 55148080 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28183 | 10265 | IRX5 | 16 | 55148080 | 55148080 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28227 | 10265 | IRX5 | 16 | 55170743 | 55170743 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |