Gene Info | |||||
|---|---|---|---|---|---|
| Description: | nephronophthisis 3 (adolescent) | ||||
| Gene Accession | Gene Name | Tax ID | Strand | Position | Gene Biotype |
ENSG00000113971  |
NPHP3 | 9606 | - |
3:132680609-132722442  |
protein_coding |
| Transcript Accession | Transcript Name | Position | Transcript Biotype | ||
| ENST00000337331 |
NPHP3-006 | 132681628-132722442 | protein_coding | ||
| ENST00000383282 |
NPHP3-201 | 132721445-132722414 | protein_coding | ||
| ENST00000465756 |
NPHP3-002 | 132681625-132722404 | nonsense_mediated_decay | ||
| ENST00000469232 |
NPHP3-003 | 132700004-132722007 | nonsense_mediated_decay | ||
| ENST00000471145 |
NPHP3-008 | 132717993-132721707 | processed_transcript | ||
| ENST00000474871 |
NPHP3-005 | 132680609-132694870 | retained_intron | ||
| ENST00000476742 |
NPHP3-009 | 132705674-132716813 | processed_transcript | ||
| ENST00000490993 |
NPHP3-004 | 132681431-132717355 | retained_intron | ||
| ENST00000493732 |
NPHP3-007 | 132681282-132684823 | retained_intron | ||
| ENST00000512094 |
NPHP3-011 | 132681628-132684685 | protein_coding | ||
| ENST00000515289 |
NPHP3-010 | 132691226-132695156 | retained_intron | ||
Expression Patterns
|
Conserved Regions |
|---|
| Not located within a conserved region. |
Gene Ontology |
||
|---|---|---|
| GO ID | Evidence Type | GO Description |
| GO:0001822 | IMP | kidney development |
| GO:0001947 | IMP | heart looping |
| GO:0003283 | IMP | atrial septum development |
| GO:0005515 | IPI:IEA | protein binding |
| GO:0005929 | IDA | cilium |
| GO:0007368 | IMP | determination of left/right symmetry |
| GO:0016055 | IEA | Wnt signaling pathway |
| GO:0030324 | IMP | lung development |
| GO:0035469 | IMP | determination of pancreatic left/right asymmetry |
| GO:0045494 | IMP | photoreceptor cell maintenance |
| GO:0048496 | IMP | maintenance of organ identity |
| GO:0060027 | IGI | convergent extension involved in gastrulation |
| GO:0060271 | ISS | cilium morphogenesis |
| GO:0060287 | IC | epithelial cilium movement involved in determination of left/right asymmetry |
| GO:0060993 | IMP | kidney morphogenesis |
| GO:0071908 | IMP | determination of intestine left/right asymmetry |
| GO:0071909 | IMP | determination of stomach left/right asymmetry |
| GO:0071910 | IMP | determination of liver left/right asymmetry |
| GO:0072189 | IMP | ureter development |
| GO:0072372 | IDA | primary cilium |
| GO:0090090 | IDA | negative regulation of canonical Wnt signaling pathway |
| GO:2000095 | ISS | regulation of Wnt signaling pathway, planar cell polarity pathway |
| GO:2000167 | IC | regulation of planar cell polarity pathway involved in neural tube closure |
Homologs | |||||
| ENSEMBL Accession | Gene Name | Description | Biotype | Species | |
|
ENSDARG00000078261
|
nphp3 | protein_coding | Danio_rerio | ||
|
ENSMUSG00000032558
|
Nphp3 | protein_coding | Mus_musculus | ||
