Reelin

Alternative Names

  • RELN
  • RL

Associated Diseases

Lissencephaly 2
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OMIM Number

600514

NCBI Gene ID

5649

Uniprot ID

P78509

Length

517,870 bases

No. of Exons

65

No. of isoforms

3

Protein Name

Reelin

Molecular Mass

388388 Da

Amino Acid Count

3460

Genomic Location

chr7:103,471,789-103,989,658

Gene Map Locus
7q22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005045.4:c.3711+2T>CSaudi ArabiaNC_000007.14:g.103594319A>GPathogenicPathogenicLissencephaly 2NG_011877.2:g.400198T>C; NM_005045.4:c.3711+2T>C; NP_005036.2:p.?24847938923064188
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