| URN | urn:agi-llid:45 |
|---|---|
| Connectivity | 9 |
| Name | Cngb3 |
| Description | cyclic nucleotide gated channel beta 3 |
| Notes | This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq] |
| Pathway | visual phototransduction pathway |
|---|
| GO Molecular Function | nucleotide binding |
|---|---|
| cGMP binding | |
| ion channel activity | |
| intracellular cGMP activated cation channel activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| integral to membrane | |
| photoreceptor outer segment |
| GO Biological Process | response to stimulus |
|---|---|
| transmembrane transport | |
| transport | |
| visual perception | |
| signal transduction | |
| cyclic nucleotide metabolic process | |
| ion transport |
| Ariadne Ontology | Non-voltage K+ efflux |
|---|---|
| Non-voltage Na+ influx |
| Group | Non-voltage K+ efflux |
|---|---|
| Non-voltage Na+ influx | |
| response to stimulus | |
| transmembrane transport | |
| transport | |
| visual perception | |
| signal transduction | |
| cyclic nucleotide metabolic process | |
| ion transport | |
| nucleotide binding | |
| cGMP binding | |
| ion channel activity | |
| intracellular cGMP activated cation channel activity | |
| membrane | |
| plasma membrane | |
| integral to membrane | |
| photoreceptor outer segment |
| MedScan ID | 45 |
|---|
| Hugo ID | 2153 |
|---|
| Human chromosome position | 8q21-q22 |
|---|
| LocusLink ID | 45 |
|---|---|
| 54714 | |
| 30952 | |
| 500418 |
| Alias | cyclic nucleotide-gated cation channel beta-3 |
|---|---|
| CNG channel beta-3 | |
| cone photoreceptor cGMP-gated cation channel beta-subunit | |
| cyclic nucleotide-gated cation channel modulatory subunit | |
| CNG6 | |
| CCNC2 | |
| Cngbeta2 | |
| RP23-109G18.1 | |
| OTTMUSP00000004949 | |
| cyclic nucleotide gated channel beta 6 | |
| cyclic nucleotide-gated channel beta-3 | |
| cyclic nucleotide-gated channel subunit CNG6 | |
| cone photoreceptor cGMP-gated channel subunit beta | |
| RGD1565364 | |
| ACHM I | |
| ACHM1 | |
| ACHM3 | |
| achromatopsia (rod monochromacy) 1 | |
| achromatopsia (rod monochromacy) 3 | |
| achromatopsia (rod monochromacy) I | |
| achromatopsia (rod monochromacy) III | |
| achromatopsia 1 | |
| achromatopsia 3 | |
| achromatopsia I | |
| achromatopsia III | |
| Cngb3 | |
| cyclic nucleotide gated channel beta 3 | |
| cyclic nucleotide gated channel beta III | |
| cyclic nucleotide gated channel beta VI | |
| cyclic nucleotide-gated chanel, beta | |
| cyclic nucleotide-gated chanel, beta 3 | |
| cyclic nucleotide-gated chanel, beta III | |
| RMCH | |
| RMCH I | |
| RMCH1 | |
| rod monochromacy protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605080 |
|---|---|
| 262300 | |
| 248200 |
| Mouse chromosome position | 4 |
|---|
| GO ID | 0030553 |
|---|---|
| 0005223 | |
| 0005216 | |
| 0000166 | |
| 0006811 | |
| 0050896 | |
| 0007165 | |
| 0055085 | |
| 0006810 | |
| 0007601 | |
| 0016021 | |
| 0016020 | |
| 0001750 | |
| 0009187 | |
| 0005886 |
| Rat chromosome position | 5q13 |
|---|
| Swiss-Prot Accession | Q9NQW8 |
|---|---|
| A2AGI9 | |
| Q9JJZ9 | |
| Q6Q2I5 | |
| Q9NRE9 |
| Unigene ID | Hs.154433 |
|---|---|
| Mm.445778 | |
| Rn.215076 |
| KEGG ID | hsa:54714 |
|---|---|
| mmu:30952 | |
| rno:500418 |
| Swiss-Prot ID | CNGB3_MOUSE |
|---|---|
| CNGB3_HUMAN | |
| A2AGI9_MOUSE |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00875084 |
|---|---|
| IPI00409767 | |
| IPI00746960 | |
| IPI00122447 | |
| IPI00569366 |
| Homologene ID | 40908 |
|---|
| RGD ID | 1565364 |
|---|
| MGI ID | 1353562 |
|---|