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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RELN
reelin
Chromosome 7 Β· 7q22.1
NCBI Gene: 5649Ensembl: ENSG00000189056.15HGNC: HGNC:9957UniProt: P78509
255PubMed Papers
22Diseases
0Drugs
117Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glial cell differentiationreceptor ligand activitylipoprotein particle receptor bindingvery-low-density lipoprotein particle receptor bindingNorman-Roberts syndrometemporal lobe epilepsyLissencephaly syndrome, Norman-Roberts typefamilial temporal lobe epilepsy 7
✦AI Summary

RELN encodes reelin, a large extracellular glycoprotein that plays critical roles in neurodevelopment and brain function. During development, reelin coordinates neuronal migration and layering in the cerebral cortex and cerebellum by binding to lipoprotein receptors VLDLR and LRP8/APOER2, which induces phosphorylation of the intracellular adaptor DAB1 1. This signaling pathway is essential for proper cortical lamination and architectonic pattern formation 1. RELN variants cause a spectrum of neurodevelopmental disorders with variable severity and penetrance. Biallelic loss-of-function variants result in severe lissencephaly with cerebellar hypoplasia, while monoallelic variants can cause frontotemporal lissencephaly, epilepsy, and autism spectrum disorders with incomplete penetrance 2. Some missense variants act through dominant-negative mechanisms, preventing wild-type RELN secretion and causing neuronal migration disorders ranging from pachygyria to polymicrogyria 3. Beyond neurodevelopment, reelin continues to be important postnatally, with LAMP5+RELN+ interneurons migrating into the entorhinal cortex during early childhood 4. Clinically, RELN variants have been associated with psychiatric disorders including schizophrenia and autism 5, and reelin dysfunction may contribute to Alzheimer's disease pathogenesis 6. Additionally, reelin has been identified as a cardioprotective lymphoangiocrine signal important for cardiac development and repair 7.

Sources cited
1
Reelin signaling pathway components and role in neuronal migration and cortical pattern formation
PMID: 11429281
2
Spectrum of RELN-related neurodevelopmental disorders from biallelic and monoallelic variants
PMID: 35769015
3
Dominant-negative mechanism of certain RELN missense variants causing neuronal migration disorders
PMID: 38980724
4
Postnatal migration of LAMP5+RELN+ interneurons in human entorhinal cortex
PMID: 38122823
5
Association of RELN variants with psychiatric disorders including schizophrenia and autism
PMID: 28506622
6
REELIN involvement in Alzheimer's disease pathogenesis
PMID: 39094979
7
Reelin as a lymphoangiocrine signal for cardiac development and repair
PMID: 33299187
Disease Associationsβ“˜22
Norman-Roberts syndromeOpen Targets
0.76Strong
temporal lobe epilepsyOpen Targets
0.69Moderate
Lissencephaly syndrome, Norman-Roberts typeOpen Targets
0.66Moderate
familial temporal lobe epilepsy 7Open Targets
0.65Moderate
Rolandic epilepsyOpen Targets
0.50Moderate
self-limited epilepsy with centrotemporal spikesOpen Targets
0.50Moderate
LissencephalyOpen Targets
0.48Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.45Moderate
otosclerosisOpen Targets
0.44Moderate
open-angle glaucomaOpen Targets
0.42Moderate
autosomal dominant epilepsy with auditory featuresOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.42Moderate
Neurodevelopmental disorderOpen Targets
0.40Moderate
COVID-19Open Targets
0.38Weak
lissencephaly with cerebellar hypoplasiaOpen Targets
0.37Weak
epilepsy with auditory featuresOpen Targets
0.37Weak
lissencephaly spectrum disordersOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
arthritisOpen Targets
0.34Weak
Epilepsy, familial temporal lobe, 7UniProt
Lissencephaly 2UniProt
Pathogenic Variants117
NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter)Pathogenic
Norman-Roberts syndrome|Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜…β˜†β˜†2025β†’ Residue 1622
NM_005045.4(RELN):c.1475del (p.Asn492fs)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7|Norman-Roberts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 492
NM_005045.4(RELN):c.3912+2T>GLikely pathogenic
not provided|Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜…β˜†β˜†2025
NM_005045.4(RELN):c.9186del (p.Phe3062fs)Pathogenic
Norman-Roberts syndrome|Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜…β˜†β˜†2023β†’ Residue 3062
NM_005045.4(RELN):c.7349+2T>CLikely pathogenic
not provided|Familial temporal lobe epilepsy 7;Norman-Roberts syndrome
β˜…β˜…β˜†β˜†2022
NM_005045.4(RELN):c.8833C>T (p.Arg2945Ter)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2026β†’ Residue 2945
NM_005045.4(RELN):c.7678C>T (p.Arg2560Ter)Pathogenic
Familial temporal lobe epilepsy 7;Norman-Roberts syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 2560
NM_005045.4(RELN):c.9606-2A>GLikely pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025
NM_005045.4(RELN):c.5911_5912insAT (p.Phe1971fs)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 1971
NM_005045.4(RELN):c.2465+2T>GLikely pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025
NM_005045.4(RELN):c.4733G>A (p.Trp1578Ter)Likely pathogenic
Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 1578
NM_005045.4(RELN):c.5211-1G>ALikely pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025
NM_005045.4(RELN):c.2562G>A (p.Trp854Ter)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 854
NM_005045.4(RELN):c.2641C>T (p.Gln881Ter)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 881
NM_005045.4(RELN):c.2825del (p.Pro942fs)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 942
NM_005045.4(RELN):c.5615-2A>GLikely pathogenic
Familial temporal lobe epilepsy 7;Norman-Roberts syndrome
β˜…β˜†β˜†β˜†2025
NM_005045.4(RELN):c.6203del (p.Leu2068fs)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 2068
NM_005045.4(RELN):c.6646C>T (p.Arg2216Ter)Pathogenic
Norman-Roberts syndrome;Familial temporal lobe epilepsy 7
β˜…β˜†β˜†β˜†2025β†’ Residue 2216
NM_005045.4(RELN):c.3266dup (p.Glu1090fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1090
NM_005045.4(RELN):c.2972G>A (p.Trp991Ter)Likely pathogenic
Norman-Roberts syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 991
View on ClinVar β†—
Related Genes
LRP8Protein interaction100%APPProtein interaction100%VLDLRProtein interaction100%ITGA10Protein interaction97%ITGA11Protein interaction97%ITGA5Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Liver
47%
Bone Marrow
13%
Heart
12%
Lung
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
RELNLRP8APPVLDLRITGA10ITGA11ITGA5
PROTEIN STRUCTURE
Preparing viewer…
PDB8G21 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.23 [0.20–0.28]
RankingsWhere RELN stands among ~20K protein-coding genes
  • #1,509of 20,598
    Most Researched255 Β· top 10%
  • #661of 5,498
    Most Pathogenic Variants117 Β· top quartile
  • #956of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedRELN
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Lymphoangiocrine signals promote cardiac growth and repair.
PMID: 33299187
Nature Β· 2020
1.00
2
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
PMID: 35769015
Brain Β· 2022
0.90
3
The risks of RELN polymorphisms and its expression in the development of otosclerosis.
PMID: 35658052
PLoS One Β· 2022
0.80
4
Neuronal migration.
PMID: 11429281
Mech Dev Β· 2001
0.70
5
RELN gene polymorphisms and susceptibility to autism in Chinese Han population.
PMID: 23287318
Neurol India Β· 2012
0.64