Entrez Gene ID | 5649 |
---|---|
Official Gene Symbol | RELN (GeneCards) |
Full name | reelin |
Location | 7q22.1 |
Other ids | Vega : OTTHUMG00000157247 MIM : 600514 HGNC : HGNC:9957 Ensembl : ENSG00000189056 |
Other names | RL, ETL7, LIS2, PRO1598 |
Summary | This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10444 | 5649 | RELN | 7 | 103589566 | 103589566 | Asymptomatic | HiSeq 2000 |
10647 | 5649 | RELN | 7 | 103300707 | 103300707 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
10784 | 5649 | RELN | 7 | 103538661 | 103538661 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
11069 | 5649 | RELN | 7 | 103637837 | 103637837 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
11383 | 5649 | RELN | 7 | 103477943 | 103477943 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
11411 | 5649 | RELN | 7 | 103511322 | 103511322 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
11570 | 5649 | RELN | 7 | 103504352 | 103504352 | Xeroderma Pigmentosum | HiSeq 2000 HiSeq X Ten |
26398 | 5649 | RELN | 7 | 103550618 | 103550618 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
26480 | 5649 | RELN | 7 | 103292172 | 103292172 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
29810 | 5649 | RELN | 7 | 103130237 | 103130237 | Autism Spectrum Disorders | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |