Detailed information for CIB2
Basic information
| Official symbol | CLN3 |
|---|---|
| Official full name | ceroid-lipofuscinosis, neuronal 3 |
| Location | 16p12.1 |
| Gene type | protein-coding |
| Synonyms | BTS|JNCL |
| Quick links | Entrez ID:1201; HGNC:2074; MIM:607042; Ensembl:ENSG00000188603; HPRD:08450; Vega:OTTHUMG00000097024 |
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: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: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:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| 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: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 |
|---|---|---|---|---|---|---|---|
| chr16 | 28487599 | 28504623 | 204200 | "Ceroid lipofuscinosis, neuronal, 3" | 3 | 607042 | 16p11.2 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0003012 | no phenotypic analysis |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0003631 | nervous system phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005367 | renal/urinary system phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005370 | liver/biliary system phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005376 | homeostasis/metabolism phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005384 | cellular phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005386 | behavior/neurological phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005389 | reproductive system phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0005391 | vision/eye phenotype |
| chr16 | 28487599 | 28504623 | 1201 | Cln3 | MGI:107537 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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