1. Gene
  2. RELN - reelin Gene

RELN - reelin Gene

Homo sapiens

Also known as RL; ETL7; LIS2; PRO1598

Gene ID: 5649 | Gene type: protein coding

About RELN

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:103,471,789-103,989,658 (from NCBI)

This gene has 22 transcripts (splice variants), 224 orthologues and is associated with 6 phenotypes. Biased expression in liver (RPKM 8.4), adrenal (RPKM 1.9) and 11 other tissues.

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]

RELN Products(2)

mRNA Protein Name
NM_005045.4 NP_005036.2 reelin isoform a precursor
NM_173054.3 NP_774959.1 reelin isoform b precursor
Gene Ontology
  • Cellular Component
Cellular Component GO Annotation Evidence Reference Source
part of reelin complex IDA
IDA: Inferred from direct assay
21844191 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RELN Protein Structure

Reeler

Reeler: Reeler domain (52 - 171)

hEGF

hEGF: Human growth factor-like EGF (2147 - 2159)

hEGF

hEGF: Human growth factor-like EGF (2870 - 2882)

  • 0
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  • 3460 a.a.
Protein Preferred Names Protein Names

reelin

Recombinant RELN Proteins

Cat. No. Product Name Accession Purity
HY-P72276 Reelin/RELN Protein, Human (P.pastoris, His) P78509 (A26-T254) ≥95%

Related Diseases

Diseases Alias
Epilepsy, Familial Temporal Lobe, 7

Familial Temporal Lobe Epilepsy 7

ETL7

Epilepsy, Temporal Lobe, Familial, Type 7

Lissencephaly 2

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

LIS2

Lissencephaly With Cerebellar Hypoplasia

Lch

Lissencephaly Syndrome Norman-Roberts Type

Norman Roberts Lissencephaly Syndrome

Lissencephaly 3

Lis3

Microlissencephaly Type A

Norman-Roberts Lissencephaly Syndrome

Lissencephaly, Type 2

Cobblestone Lissencephaly

Synovitis
Arthritis, Sacroiliac
Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Autosomal Dominant Epilepsy With Auditory Features

Adeaf

Adlte

Autosomal Dominant Lateral Temporal Epilepsy

Adpeaf

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Partial Epilepsy With Auditory Aura

Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Neuronal Migration Disorders

Abnormality Of Neuronal Migration

Malformations Of Cortical Development, Group Ii

Neuronal Dysmigration Syndromes

Scoliosis
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Cerebellar Hypoplasia
Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Otosclerosis

Otospongiosis

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Lissencephaly 10

LIS10

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Dyslexia
Bilateral Frontal Polymicrogyria
Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37

SCA37

Spinocerebellar Ataxia With Altered Vertical Eye Movements

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Lissencephaly 7 With Cerebellar Hypoplasia

LIS7

Lissencephaly 7, With Cerebellar Hypoplasia

Lissencephaly, Type 7, With Cerebellar Hypoplasia

Hereditary Lymphedema I

Lymphedema

Hereditary Lymphedema Type I

Congenital Primary Lymphedema

Lmph1

Milroy Disease

Nonne-Milroy Lymphedema

Pcl

Lymphedema Hereditary Type 1

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia

Hydranencephaly With Abnormal Genitalia

Xlag

Xlisg

X-Linked Lissencephaly With Ambiguous Genitalia

LISX2

Lissencephaly, X-Linked 2

X-Linked Lissencephaly 2

X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly, X-Linked, With Ambiguous Genitalia

Xlis2

X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly X-Linked With Ambiguous Genitalia

Lissencephaly, X-Linked, Type 2

Chromosome Xq26.3 Duplication Syndrome

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Tubulinopathy

Tubulinopathies

Microlissencephaly
Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria

BFPP

Cerebellar Ataxia With Neuronal Migration Defect

Gene Duplication Disease

Gene Duplication Syndrome

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RELN MGD MGI:103022
Bos taurus RELN VGNC VGNC:53666
Felis catus RELN VGNC VGNC:69285
Macaca mulatta RELN VGNC VGNC:81752
Canis familiaris RELN VGNC VGNC:45470
Rattus norvegicus RELN RGD RGD:3553
Others RELN NCBI