| Entrez Gene ID | 152330 |
|---|---|
| Official Gene Symbol | CNTN4 (GeneCards) |
| Full name | contactin 4 |
| Location | 3p26.3-p26.2 |
| Other ids | Vega : OTTHUMG00000119031 MIM : 607280 HGNC : HGNC:2174 Ensembl : ENSG00000144619 |
| Other names | AXCAM, BIG-2 |
| Summary | This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] |
Found 11 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 851 | 152330 | CNTN4 | 3 | 2861235 | 2861235 | Human Skin Fibroblasts | HiSeq 2500 |
| 4675 | 152330 | CNTN4 | 3 | 2304054 | 2304054 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 4947 | 152330 | CNTN4 | 3 | 2386992 | 2386992 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5226 | 152330 | CNTN4 | 3 | 2269396 | 2269396 | HiSeq 2500 HiSeq X Ten | |
| 5392 | 152330 | CNTN4 | 3 | 3034539 | 3034539 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5482 | 152330 | CNTN4 | 3 | 2427149 | 2427149 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5671 | 152330 | CNTN4 | 3 | 2476222 | 2476222 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 5720 | 152330 | CNTN4 | 3 | 2762290 | 2762290 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 5754 | 152330 | CNTN4 | 3 | 2210050 | 2210050 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 5771 | 152330 | CNTN4 | 3 | 2854790 | 2854790 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 22779 | 152330 | CNTN4 | 3 | 2763614 | 2763614 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |