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Aliases for RELN Gene

Aliases for RELN Gene

  • Reelin 2 3
  • LIS2 3 6
  • RL 3 6
  • EC 3.4.21.- 4
  • EC 3.4.21 64
  • PRO1598 3

External Ids for RELN Gene

Summaries for RELN Gene

Entrez Gene Summary for RELN Gene

  • 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]

GeneCards Summary for RELN Gene

RELN (Reelin) is a Protein Coding gene. Diseases associated with RELN include lissencephaly 2 and temporal lobe epilepsy. Among its related pathways are PI3K-Akt signaling pathway and Focal adhesion. GO annotations related to this gene include serine-type peptidase activity and very-low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot for RELN Gene

  • Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity).

Gene Wiki entry for RELN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RELN Gene

Genomics for RELN Gene

Genomic Location for RELN Gene

Start:
103,471,784 bp from pter
End:
103,989,516 bp from pter
Size:
517,733 bases
Orientation:
Minus strand

Genomic View for RELN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RELN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RELN Gene

Regulatory Elements for RELN Gene

Proteins for RELN Gene

  • Protein details for RELN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78509-RELN_HUMAN
    Recommended name:
    Reelin
    Protein Accession:
    P78509
    Secondary Accessions:
    • A4D0P9
    • A4D0Q0
    • Q86UJ0
    • Q86UJ8
    • Q8NDV0
    • Q9UDQ2

    Protein attributes for RELN Gene

    Size:
    3460 amino acids
    Molecular mass:
    388388 Da
    Quaternary structure:
    • Oligomer of disulfide-linked homodimers. Binds to the ectodomains of VLDLR and LRP8/APOER2 (By similarity).

    Alternative splice isoforms for RELN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RELN Gene

Proteomics data for RELN Gene at MOPED

Post-translational modifications for RELN Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn140, Asn257, Asn289, Asn305, Asn628, Asn1266, Asn1599, Asn1749, Asn1920, Asn2144, Asn2268, Asn2316, Asn2568, Asn2961, Asn3015, Asn3072, Asn3184, Asn3411, and Asn3438

Other Protein References for RELN Gene

Domains for RELN Gene

Protein Domains for RELN Gene

UniProtKB/Swiss-Prot:

RELN_HUMAN
Domain:
  • The basic C-terminal region is essential for secretion.:
    • P78509
  • Contains 8 EGF-like domains.:
    • P78509
  • Contains 1 reelin domain.:
    • P78509
Family:
  • Belongs to the reelin family.:
    • P78509
Similarity:
  • Contains 16 BNR repeats.:
    • P78509
genes like me logo Genes that share domains with RELN: view

No data available for Gene Families for RELN Gene

Function for RELN Gene

Molecular function for RELN Gene

GENATLAS Biochemistry: mouse reelin homolog,338kDa,containing a CGG repeat in 5utr,expressed in pioneer neurons,fetal,postnatal brain and liver,involved in neuronal migration,mutated in mouse reeler
UniProtKB/Swiss-Prot Function: Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity).

Enzyme Numbers (IUBMB) for RELN Gene

Gene Ontology (GO) - Molecular Function for RELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004712 protein serine/threonine/tyrosine kinase activity ISS --
GO:0005515 protein binding --
GO:0008236 serine-type peptidase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0070325 lipoprotein particle receptor binding ISS 10571240
genes like me logo Genes that share ontologies with RELN: view
genes like me logo Genes that share phenotypes with RELN: view

miRNA for RELN Gene

miRTarBase miRNAs that target RELN

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RELN Gene

Localization for RELN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RELN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RELN Gene COMPARTMENTS Subcellular localization image for RELN gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space ISS --
GO:0005737 cytoplasm ISS --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with RELN: view

Pathways for RELN Gene

genes like me logo Genes that share pathways with RELN: view

Gene Ontology (GO) - Biological Process for RELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000904 cell morphogenesis involved in differentiation ISS --
GO:0001764 neuron migration ISS --
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance ISS --
genes like me logo Genes that share ontologies with RELN: view

Compounds for RELN Gene

(17) Novoseek inferred chemical compound relationships for RELN Gene

Compound -log(P) Hits PubMed IDs
imidazenil 71.6 1
gaba 46.1 12
glutamate 45.6 25
cytosine 38.6 3
tyrosine 38.1 27
genes like me logo Genes that share compounds with RELN: view

Transcripts for RELN Gene

Unigene Clusters for RELN Gene

Reelin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RELN Gene

No ASD Table

Relevant External Links for RELN Gene

GeneLoc Exon Structure for
RELN
ECgene alternative splicing isoforms for
RELN

Expression for RELN Gene

mRNA expression in normal human tissues for RELN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RELN Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (19.2) and Brain - Cerebellum (12.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RELN Gene

SOURCE GeneReport for Unigene cluster for RELN Gene Hs.655654

mRNA Expression by UniProt/SwissProt for RELN Gene

P78509-RELN_HUMAN
Tissue specificity: Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.
genes like me logo Genes that share expressions with RELN: view

Orthologs for RELN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RELN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RELN 36
  • 99.52 (n)
  • 99.83 (a)
RELN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RELN 36
  • 92.5 (n)
  • 97.05 (a)
RELN 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RELN 36
  • 91.87 (n)
  • 96.76 (a)
RELN 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reln 36
  • 88.37 (n)
  • 95.23 (a)
Reln 16
Reln 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RELN 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RELN 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reln 36
  • 87.72 (n)
  • 95.03 (a)
chicken
(Gallus gallus)
Aves RELN 36
  • 81.37 (n)
  • 90.8 (a)
RELN 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RELN 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia reln 36
tropical clawed frog
(Silurana tropicalis)
Amphibia reln 36
  • 76.46 (n)
  • 85.42 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
CABZ01102516.1 37
  • 66 (a)
OneToMany
CABZ01102518.1 37
  • 66 (a)
OneToMany
reln 36
  • 65.45 (n)
  • 68.02 (a)
RELN (1 of 4) 37
  • 56 (a)
OneToMany
relnl 37
  • 75 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToMany
-- 37
  • 37 (a)
OneToMany
Species with no ortholog for RELN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RELN Gene

ENSEMBL:
Gene Tree for RELN (if available)
TreeFam:
Gene Tree for RELN (if available)

Paralogs for RELN Gene

No data available for Paralogs for RELN Gene

Variants for RELN Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RELN Gene

P78509-RELN_HUMAN
A polymorphic GGC triplet repeat located in the 5-UTR region of RELN gene, which harbors in the normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional repeats

Sequence variations from dbSNP and Humsavar for RELN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs4283 -- 103,876,830(-) AGCCT(A/G)AAGTA intron-variant
rs4285 -- 103,876,835(-) ATTTA(-/A)GCCTA intron-variant
rs4286 -- 103,876,787(-) TTTTT(A/AA/T)AAAAA intron-variant
rs4287 -- 103,876,769(-) ACATT(G/T)TATCA intron-variant
rs16646 -- 103,760,897(-) ATAAA(-/GAAA)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RELN Gene

Variant ID Type Subtype PubMed ID
nsv831085 CNV Gain 17160897
nsv888923 CNV Loss 21882294
esv2556237 CNV Deletion 19546169
nsv5886 CNV Insertion 18451855
esv2659743 CNV Deletion 23128226
nsv516122 CNV Gain 19592680
dgv424n21 CNV Loss 19592680
nsv524101 CNV Loss 19592680
nsv523887 CNV Loss 19592680
nsv523031 CNV Gain 19592680
esv2236652 CNV Deletion 18987734
esv3716 CNV Deletion 18987735
esv7153 CNV Loss 19470904
esv2734954 CNV Deletion 23290073
esv990549 CNV Deletion 20482838
esv1599327 CNV Deletion 17803354
nsv523466 CNV Loss 19592680
nsv517254 CNV Loss 19592680
nsv818543 CNV Gain 17921354

Relevant External Links for RELN Gene

HapMap Linkage Disequilibrium report
RELN
Human Gene Mutation Database (HGMD)
RELN

Disorders for RELN Gene

(1) OMIM Diseases for RELN Gene (600514)

UniProtKB/Swiss-Prot

RELN_HUMAN
  • Lissencephaly 2 (LIS2) [MIM:257320]: A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. {ECO:0000269 PubMed:10973257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(30) Novoseek inferred disease relationships for RELN Gene

Disease -log(P) Hits PubMed IDs
cerebellar hypoplasia 83.6 8
periventricular nodular heterotopia 80.1 1
schizophrenia 70.9 86
lissencephaly sequence, isolated 67.4 1
microgyria 55.8 1

Relevant External Links for RELN

Genetic Association Database (GAD)
RELN
Human Genome Epidemiology (HuGE) Navigator
RELN
genes like me logo Genes that share disorders with RELN: view

Publications for RELN Gene

  1. The human reelin gene: isolation, sequencing, and mapping on chromosome 7. (PMID: 9049633) DeSilva U. … Green E.D. (Genome Res. 1997) 2 3 4 23
  2. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. (PMID: 11317216) Persico A.M. … Keller F. (Mol. Psychiatry 2001) 3 4 23 49
  3. Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia. (PMID: 12363388) Akahane A. … Nanko S. (Schizophr. Res. 2002) 3 23 49
  4. A decrease of reelin expression as a putative vulnerability factor in schizophrenia. (PMID: 9861036) Impagnatiello F. … Costa E. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  5. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (PMID: 10973257) Hong S.E. … Walsh C.A. (Nat. Genet. 2000) 3 4 23

Products for RELN Gene

Sources for RELN Gene

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