| URN | urn:agi-llid:45 |
|---|---|
| Total Entities | 0 |
| Connectivity | 26 |
| 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] |
| Ariadne Ontology | Non-voltage K+ efflux |
|---|---|
| Non-voltage Na+ influx |
| GO Molecular Function | nucleotide binding |
|---|---|
| cGMP binding | |
| ion channel activity | |
| intracellular cGMP activated cation channel activity |
| GO Cellular Component | membrane |
|---|---|
| integral to membrane | |
| plasma membrane | |
| photoreceptor outer segment |
| GO Biological Process | response to stimulus |
|---|---|
| transmembrane transport | |
| signal transduction | |
| cyclic nucleotide metabolic process | |
| ion transmembrane transport | |
| visual perception | |
| transport | |
| ion transport | |
| cation transport |
| Pathway | visual phototransduction pathway |
|---|---|
| altered visual phototransduction pathway |
| Group | Non-voltage K+ efflux |
|---|---|
| Non-voltage Na+ influx | |
| response to stimulus | |
| transmembrane transport | |
| signal transduction | |
| cyclic nucleotide metabolic process | |
| ion transmembrane transport | |
| visual perception | |
| transport | |
| ion transport | |
| cation transport | |
| nucleotide binding | |
| cGMP binding | |
| ion channel activity | |
| intracellular cGMP activated cation channel activity | |
| membrane | |
| integral to membrane | |
| plasma membrane | |
| photoreceptor outer segment |
| MedScan ID | 45 |
|---|
| Hugo ID | 2153 |
|---|
| Human chromosome position | 8q21.3 |
|---|---|
| 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 | |
| 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 | |
| RMCH1 | |
| cyclic nucleotide-gated chanel, beta III | |
| cyclic nucleotide gated channel beta 3 | |
| cyclic nucleotide gated channel beta III | |
| cyclic nucleotide-gated chanel, beta | |
| cyclic nucleotide-gated chanel, beta 3 | |
| OTTMUSP00000004949 | |
| RMCH I | |
| rod monochromacy protein | |
| RMCH | |
| ACHM3 | |
| cyclic nucleotide gated channel beta VI | |
| ACHM1 | |
| achromatopsia (rod monochromacy) 1 | |
| achromatopsia (rod monochromacy) 3 | |
| achromatopsia (rod monochromacy) I | |
| achromatopsia (rod monochromacy) III | |
| achromatopsia 1 | |
| achromatopsia 3 | |
| Cngb3 | |
| ACHM I | |
| achromatopsia I | |
| achromatopsia III |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605080 |
|---|---|
| 262300 | |
| 248200 |
| Unigene ID | Hs.154433 |
|---|---|
| Mm.445778 | |
| Rn.215076 |
| KEGG ID | hsa:54714 |
|---|---|
| mmu:30952 | |
| rno:500418 |
| Swiss-Prot Accession | Q9NQW8 |
|---|---|
| A2AGI9 | |
| Q9JJZ9 | |
| C9JA51 | |
| Q9NRE9 | |
| Q6Q2I5 |
| GO ID | 0030553 |
|---|---|
| 0005223 | |
| 0007165 | |
| 0006810 | |
| 0007601 | |
| 0016021 | |
| 0001750 | |
| 0005216 | |
| 0000166 | |
| 0006812 | |
| 0009187 | |
| 0034220 | |
| 0006811 | |
| 0050896 | |
| 0055085 | |
| 0016020 | |
| 0005886 |
| Swiss-Prot ID | CNGB3_HUMAN |
|---|---|
| CNGB3_MOUSE | |
| A2AGI9_MOUSE |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00409767 |
|---|---|
| IPI00746960 | |
| IPI00875084 | |
| IPI00122447 | |
| IPI00569366 |
| Mouse chromosome position | 4 |
|---|
| Rat chromosome position | 5q13 |
|---|
| Homologene ID | 40908 |
|---|
| MGI ID | 1353562 |
|---|
| RGD ID | 1565364 |
|---|
| Primary Cell Localization | Plasma membrane |
|---|