Detailed information for NPHP3
Basic information
| Official symbol | NPHP3 |
|---|---|
| Official full name | nephronophthisis 3 (adolescent) |
| Location | 3q22.1 |
| Gene type | protein-coding |
| Synonyms | MKS7|NPH3|RHPD |
| Quick links | Entrez ID:27031; HGNC:7907; MIM:608002; Ensembl:ENSG00000113971; HPRD:06417; Vega:OTTHUMG00000159713 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0050953 | sensory perception of light stimulus | 205 | 100 | 2.55 | 39.21 | 8.72e-146 | 1.02e-142 |
| GO:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| GO:0007600 | sensory perception | 495 | 103 | 6.16 | 16.73 | 4.54e-105 | 1.78e-102 |
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0045494 | photoreceptor cell maintenance | 25 | 22 | 0.31 | 70.74 | 7.36e-40 | 1.44e-37 |
| GO:0043954 | cellular component maintenance | 38 | 22 | 0.47 | 46.54 | 6.20e-33 | 8.09e-31 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0060271 | cilium morphogenesis | 97 | 25 | 1.21 | 20.72 | 2.04e-26 | 1.26e-24 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0030030 | cell projection organization | 934 | 46 | 11.62 | 3.96 | 2.85e-16 | 9.84e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0000902 | cell morphogenesis | 945 | 42 | 11.76 | 3.57 | 2.49e-13 | 7.69e-12 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| GO:0072372 | primary cilium | 96 | 33 | 1.05 | 31.52 | 2.93e-41 | 1.91e-39 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr3 | 132398452 | 132442303 | 267010 | Meckel syndrome 7 | 3 | 608002 | 3q22.1 |
| chr3 | 132398452 | 132442303 | 604387 | Nephronophthisis 3 | 3 | 608002 | 3q22.1 |
| chr3 | 132398452 | 132442303 | 208540 | Renal-hepatic-pancreatic dysplasia | 3 | 608002 | 3q22.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0003631 | nervous system phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005367 | renal/urinary system phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005376 | homeostasis/metabolism phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005378 | growth/size phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005380 | embryogenesis phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005382 | craniofacial phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005385 | cardiovascular system phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005386 | behavior/neurological phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005387 | immune system phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005390 | skeleton phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0005397 | hematopoietic system phenotype |
| chr3 | 132398452 | 132442303 | 27031 | Nphp3 | MGI:1921275 | MP:0010768 | mortality/aging |
Mutation spectrum
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
Gene-disease network
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.