RELN reelin [Homo sapiens (human)] - Gene

Summary

Official Symbol: RELNprovided by HGNC
Official Full Name: reelinprovided by HGNC
Primary source: HGNC:HGNC:9957
See related: Ensembl:ENSG00000189056 MIM:600514; AllianceGenome:HGNC:9957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RL; ETL7; LIS2; PRO1598
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]
Expression: Biased expression in liver (RPKM 8.4), adrenal (RPKM 1.9) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 65

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (103471789..103989658, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (104786230..105303683, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (103112236..103630105, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proximity interactome of lymphatic VE-cadherin reveals mechanisms of junctional remodeling and reelin secretion.
Title: Proximity interactome of lymphatic VE-cadherin reveals mechanisms of junctional remodeling and reelin secretion.
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Title: Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Title: De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
Title: OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility.
Title: The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility.
Reelin through the years: From brain development to inflammation.
Title: Reelin through the years: From brain development to inflammation.
Central repeat fragment of reelin leads to active reelin intracellular signaling and rescues cognitive deficits in a mouse model of reelin deficiency.
Title: Central repeat fragment of reelin leads to active reelin intracellular signaling and rescues cognitive deficits in a mouse model of reelin deficiency.
Reelin Plasma Levels Identify Cognitive Decline in Alcohol Use Disorder Patients During Early Abstinence: The Influence of APOE4 Expression.
Title: Reelin Plasma Levels Identify Cognitive Decline in Alcohol Use Disorder Patients During Early Abstinence: The Influence of APOE4 Expression.
Identification and Validation of RELN Mutation as a Response Indicator for Immune Checkpoint Inhibitor Therapy in Melanoma and Non-Small Cell Lung Cancer.
Title: Identification and Validation of RELN Mutation as a Response Indicator for Immune Checkpoint Inhibitor Therapy in Melanoma and Non-Small Cell Lung Cancer.
Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis.
Title: Whole genome analysis in APOE4 homozygotes identifies the DAB1-RELN pathway in Alzheimer's disease pathogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (204)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epilepsy, familial temporal lobe, 1 MedGen: C4551957 OMIM: 600512 GeneReviews: Autosomal Dominant Epilepsy with Auditory Features	Compare labs
Familial temporal lobe epilepsy 7 MedGen: C4225327 OMIM: 616436 GeneReviews: Autosomal Dominant Epilepsy with Auditory Features	Compare labs
Norman-Roberts syndrome MedGen: C0796089 OMIM: 257320 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2023-12-14) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2023-12-14) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2504 (e-PCR)
- UniSTS:8737

SHGC-32029 (e-PCR)
- UniSTS:27433

D7S796 (e-PCR)
- UniSTS:5949

RH68525 (e-PCR)
- UniSTS:73533

D7S3120 (e-PCR)
- UniSTS:186687

G17191 (e-PCR)
- UniSTS:42054

RH12772 (e-PCR)
- UniSTS:24420

D7S818 (e-PCR)
- UniSTS:57452

AFM211ZB8 (e-PCR)
- UniSTS:12653

SHGC-132750 (e-PCR)
- UniSTS:170874

RH121863 (e-PCR)
- UniSTS:134524

RELN_772 (e-PCR)
- UniSTS:277663

STS-AA010356 (e-PCR)
- UniSTS:69286

RELN (e-PCR)
- UniSTS:75435

RELN (e-PCR)
- UniSTS:37309

WI-11169 (e-PCR)
- UniSTS:26065

SHGC-173033 (e-PCR)
- UniSTS:185304

D7S2504 (e-PCR)
- UniSTS:75488

D7S796 (e-PCR)
- UniSTS:83175

D7S1663 (e-PCR)
- UniSTS:42479

AFMB316ZD5 (e-PCR)
- UniSTS:76279

A008X27 (e-PCR)
- UniSTS:56567

SHGC-83349 (e-PCR)
- UniSTS:95993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipoprotein particle receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipoprotein particle receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables receptor ligand activity	ISS Inferred from Sequence or Structural Similarity more info
enables serine-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables very-low-density lipoprotein particle receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in NMDA glutamate receptor clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in associative learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebral cortex tangential migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in interneuron migration	IEA Inferred from Electronic Annotation more info
involved_in lateral motor column neuron migration	IEA Inferred from Electronic Annotation more info
involved_in layer formation in cerebral cortex	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in long-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lateral motor column neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of small GTPase mediated signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynaptic density assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynaptic density protein 95 clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in receptor localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in reelin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in reelin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of NMDA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of neuron migration	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of synaptic activity	NAS Non-traceable Author Statement more info	PubMed
involved_in response to pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord patterning	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventral spinal cord development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of reelin complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: reelin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011877.2 RefSeqGene

Range

4859..522728

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005045.4 → NP_005036.2 reelin isoform a precursor

See identical proteins and their annotated locations for NP_005036.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).

Source sequence(s)

AC000121, AC002067, AC005064, AC005101, AC006316, AC073208, KF458525

Consensus CDS

CCDS47680.1

UniProtKB/Swiss-Prot

A4D0P9, A4D0Q0, P78509, Q86UJ0, Q86UJ8, Q8NDV0, Q9UDQ2

UniProtKB/TrEMBL

J3KQ66

Related

ENSP00000392423.1, ENST00000428762.6

Conserved Domains (20) summary

cd10036
Location:202 → 351

Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin

cd10037
Location:526 → 671

Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins

cd10038
Location:867 → 1034

Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins

cd10039
Location:1240 → 1409

Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins

cd10040
Location:1605 → 1774

Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins

cd10041
Location:1956 → 2130

Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins

cd10042
Location:2322 → 2478

Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins

cd10043
Location:2669 → 2853

Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins

cd10044
Location:3055 → 3229

Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins

cd10045
Location:708 → 862

Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins

cd10046
Location:1065 → 1220

Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins

cd10047
Location:1447 → 1597

Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins

cd10048
Location:1800 → 1949

Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins

cd10049
Location:2165 → 2314

Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins

cd10050
Location:2514 → 2661

Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins

cd10051
Location:2889 → 3050

Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins

cd10052
Location:3266 → 3426

Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins

cl15240
Location:421 → 556

Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins

cd08544
Location:48 → 178

Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins

pfam07974
Location:2130 → 2159

EGF_2; EGF-like domain
NM_173054.3 → NP_774959.1 reelin isoform b precursor

See identical proteins and their annotated locations for NP_774959.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame, 6 nt microexon in the coding region compared to variant 1, resulting in an isoform (b) that is 2 aa shorter than isoform a.

Source sequence(s)

AC000121, AC002067, AC005064, AC005101, AC006316, AC073208, KF458525

Consensus CDS

CCDS34722.1

UniProtKB/TrEMBL

J3KQ66

Related

ENSP00000345694.5, ENST00000343529.9

Conserved Domains (20) summary

cd10036
Location:202 → 351

Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin

cd10037
Location:526 → 671

Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins

cd10038
Location:867 → 1034

Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins

cd10039
Location:1240 → 1409

Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins

cd10040
Location:1605 → 1774

Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins

cd10041
Location:1956 → 2130

Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins

cd10042
Location:2322 → 2478

Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins

cd10043
Location:2669 → 2853

Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins

cd10044
Location:3055 → 3229

Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins

cd10045
Location:708 → 862

Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins

cd10046
Location:1065 → 1220

Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins

cd10047
Location:1447 → 1597

Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins

cd10048
Location:1800 → 1949

Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins

cd10049
Location:2165 → 2314

Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins

cd10050
Location:2514 → 2661

Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins

cd10051
Location:2889 → 3050

Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins

cd10052
Location:3266 → 3426

Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins

cl15240
Location:421 → 556

Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins

cd08544
Location:48 → 178

Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins

pfam07974
Location:2130 → 2159

EGF_2; EGF-like domain