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Aliases for RELN Gene

Aliases for RELN Gene

  • Reelin 2 3 5
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • PRO1598 3
  • LIS2 3
  • ETL7 3
  • RL 3

External Ids for RELN Gene

Previous GeneCards Identifiers for RELN Gene

  • GC07M101596
  • GC07M101595
  • GC07M102658
  • GC07M102672
  • GC07M102706
  • GC07M102899
  • GC07M103112
  • GC07M097472

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 epilepsy, familial temporal lobe, 7. Among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Guidance Cues and Growth Cone Motility. 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

Regulatory Elements for RELN Gene

Promoters for RELN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RELN on UCSC Golden Path with GeneCards custom track

Genomic Location for RELN Gene

Chromosome:
7
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

Genes around RELN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RELN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RELN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 140, Asn 257, Asn 289, Asn 305, Asn 628, Asn 1266, Asn 1599, Asn 1749, Asn 1920, Asn 2144, Asn 2268, Asn 2316, Asn 2568, Asn 2961, Asn 3015, Asn 3072, Asn 3184, Asn 3411, and Asn 3438
  • Modification sites at PhosphoSitePlus

Other Protein References for RELN Gene

Antibody Products

Domains & Families for RELN Gene

Protein Domains for RELN Gene

Suggested Antigen Peptide Sequences for RELN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78509

UniProtKB/Swiss-Prot:

RELN_HUMAN :
  • The basic C-terminal region is essential for secretion.
  • Belongs to the reelin family.
  • Contains 16 BNR repeats.
Domain:
  • The basic C-terminal region is essential for secretion.
  • Contains 8 EGF-like domains.
  • Contains 1 reelin domain.
Family:
  • Belongs to the reelin family.
Similarity:
  • Contains 16 BNR repeats.
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

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

Human Phenotype Ontology for RELN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RELN Gene

miRTarBase miRNAs that target RELN

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
plasma membrane 4
cytoskeleton 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with RELN: view

Pathways & Interactions for RELN Gene

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

SIGNOR curated interactions for RELN Gene

Activates:

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

Drugs & Compounds for RELN Gene

(9) Drugs for RELN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for RELN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x19.2) and Brain - Cerebellum (x12.0).

Protein differential expression in normal tissues from HIPED for RELN Gene

This gene is overexpressed in Vitreous humor (45.5) and Cerebrospinal fluid (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RELN: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for RELN Gene

Orthologs for RELN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RELN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RELN 35
  • 92.5 (n)
  • 97.05 (a)
RELN 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RELN 35
  • 91.87 (n)
  • 96.76 (a)
RELN 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reln 35
  • 88.37 (n)
  • 95.23 (a)
Reln 16
Reln 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RELN 35
  • 99.52 (n)
  • 99.83 (a)
RELN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reln 35
  • 87.72 (n)
  • 95.03 (a)
oppossum
(Monodelphis domestica)
Mammalia RELN 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RELN 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves RELN 35
  • 81.37 (n)
  • 90.8 (a)
RELN 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RELN 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reln 35
  • 76.46 (n)
  • 85.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia reln 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
reln 35
  • 65.45 (n)
  • 68.02 (a)
CABZ01102516.1 36
  • 66 (a)
OneToMany
CABZ01102518.1 36
  • 66 (a)
OneToMany
RELN (1 of 4) 36
  • 56 (a)
OneToMany
relnl 36
  • 75 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
-- 36
  • 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
rs3025962 - 103,610,771(+) TGATG(C/T)AAATT reference, missense
rs362691 - 103,610,714(+) AAGAA(A/C/G)CACTA reference, missense
rs2229860 - 103,565,380(-) TGTTC(C/G)TCCAA reference, missense
VAR_073862 Epilepsy, familial temporal lobe, 7 (ETL7)
VAR_073863 Epilepsy, familial temporal lobe, 7 (ETL7)

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

Variation tolerance for RELN Gene

Residual Variation Intolerance Score: 4.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.55; 88.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RELN Gene

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

Disorders for RELN Gene

MalaCards: The human disease database

(21) MalaCards diseases for RELN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RELN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RELN_HUMAN
  • Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269 PubMed:26046367}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Relevant External Links for RELN

Genetic Association Database (GAD)
RELN
Human Genome Epidemiology (HuGE) Navigator
RELN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RELN
genes like me logo Genes that share disorders with RELN: view

No data available for Genatlas for RELN Gene

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 67
  2. Reelin deficiency causes granule cell dispersion in epilepsy. (PMID: 19633980) Haas C.A. … Frotscher M. (Exp Brain Res 2010) 3 23
  3. Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia. (PMID: 19922905) Wedenoja J. … Peltonen L. (Biol. Psychiatry 2010) 3 23
  4. Epigenetic silencing of RELN in gastric cancer. (PMID: 19956836) Dohi O. … Yoshikawa T. (Int. J. Oncol. 2010) 3 23
  5. Beta-amyloid controls altered Reelin expression and processing in Alzheimer's disease. (PMID: 20025970) Botella-LA^pez A. … SA!ez-Valero J. (Neurobiol. Dis. 2010) 3 23

Products for RELN Gene

Sources for RELN Gene

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