• Gene id: 5649

Gene Summary

• Gene Symbol: RELN   Gene   UCSC   Ensembl
• Aliases: ETL7, LIS2, PRO1598, RL
• Gene name: reelin
• Alternate names: reelin,
• Gene location: 7q22.1 (103989657: 103471783)     Exons: 65     NC_000007.14
• Gene summary(Entrez): 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 disorde
• OMIM: 607367

Protein Summary

• Protein general information: P78509  
  • Name: Reelin (EC 3.4.21. )
  • Length: 3460  
  • Mass: 388388
  • 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, prefere
• Sequence:

  MERSGWARQTFLLALLLGATLRARAAAGYYPRFSPFFFLCTHHGELEGDGEQGEVLISLHIAGNPTYYVPGQEYH
  VTISTSTFFDGLLVTGLYTSTSVQASQSIGGSSAFGFGIMSDHQFGNQFMCSVVASHVSHLPTTNLSFIWIAPPA
  GTGCVNFMATATHRGQVIFKDALAQQLCEQGAPTDVTVHPHLAEIHSDSIILRDDFDSYHQLQLNPNIWVECNNC
  ETGEQCGAIMHGNAVTFCEPYGPRELITTGLNTTTASVLQFSIGSGSCRFSYSDPSIIVLYAKNNSADWIQLEKI
  RAPSNVSTIIHILYLPEDAKGENVQFQWKQENLRVGEVYEACWALDNILIINSAHRQVVLEDSLDPVDTGNWLFF
  PGATVKHSCQSDGNSIYFHGNEGSEFNFATTRDVDLSTEDIQEQWSEEFESQPTGWDVLGAVIGTECGTIESGLS
  MVFLKDGERKLCTPSMDTTGYGNLRFYFVMGGICDPGNSHENDIILYAKIEGRKEHITLDTLSYSSYKVPSLVSV
  VINPELQTPATKFCLRQKNHQGHNRNVWAVDFFHVLPVLPSTMSHMIQFSINLGCGTHQPGNSVSLEFSTNHGRS
  WSLLHTECLPEICAGPHLPHSTVYSSENYSGWNRITIPLPNAALTRNTRIRWRQTGPILGNMWAIDNVYIGPSCL
  KFCSGRGQCTRHGCKCDPGFSGPACEMASQTFPMFISESFGSSRLSSYHNFYSIRGAEVSFGCGVLASGKALVFN
  KDGRRQLITSFLDSSQSRFLQFTLRLGSKSVLSTCRAPDQPGEGVLLHYSYDNGITWKLLEHYSYLSYHEPRIIS
  VELPGDAKQFGIQFRWWQPYHSSQREDVWAIDEIIMTSVLFNSISLDFTNLVEVTQSLGFYLGNVQPYCGHDWTL
  CFTGDSKLASSMRYVETQSMQIGASYMIQFSLVMGCGQKYTPHMDNQVKLEYSTNHGLTWHLVQEECLPSMPSCQ
  EFTSASIYHASEFTQWRRVIVLLPQKTWSSATRFRWSQSYYTAQDEWALDSIYIGQQCPNMCSGHGSCDHGICRC
  DQGYQGTECHPEAALPSTIMSDFENQNGWESDWQEVIGGEIVKPEQGCGVISSGSSLYFSKAGKRQLVSWDLDTS
  WVDFVQFYIQIGGESASCNKPDSREEGVLLQYSNNGGIQWHLLAEMYFSDFSKPRFVYLELPAAAKTPCTRFRWW
  QPVFSGEDYDQWAVDDIIILSEKQKQIIPVINPTLPQNFYEKPAFDYPMNQMSVWLMLANEGMVKNETFCAATPS
  AMIFGKSDGDRFAVTRDLTLKPGYVLQFKLNIGCANQFSSTAPVLLQYSHDAGMSWFLVKEGCYPASAGKGCEGN
  SRELSEPTMYHTGDFEEWTRITIVIPRSLASSKTRFRWIQESSSQKNVPPFGLDGVYISEPCPSYCSGHGDCISG
  VCFCDLGYTAAQGTCVSNVPNHNEMFDRFEGKLSPLWYKITGAQVGTGCGTLNDGKSLYFNGPGKREARTVPLDT
  RNIRLVQFYIQIGSKTSGITCIKPRTRNEGLIVQYSNDNGILWHLLRELDFMSFLEPQIISIDLPQDAKTPATAF
  RWWQPQHGKHSAQWALDDVLIGMNDSSQTGFQDKFDGSIDLQANWYRIQGGQVDIDCLSMDTALIFTENIGKPRY
  AETWDFHVSASTFLQFEMSMGCSKPFSNSHSVQLQYSLNNGKDWHLVTEECVPPTIGCLHYTESSIYTSERFQNW
  KRITVYLPLSTISPRTRFRWIQANYTVGADSWAIDNVVLASGCPWMCSGRGICDAGRCVCDRGFGGPYCVPVVPL
  PSILKDDFNGNLHPDLWPEVYGAERGNLNGETIKSGTSLIFKGEGLRMLISRDLDCTNTMYVQFSLRFIAKSTPE
  RSHSILLQFSISGGITWHLMDEFYFPQTTNILFINVPLPYTAQTNATRFRLWQPYNNGKKEEIWIVDDFIIDGNN
  VNNPVMLLDTFDFGPREDNWFFYPGGNIGLYCPYSSKGAPEEDSAMVFVSNEVGEHSITTRDLNVNENTIIQFEI
  NVGCSTDSSSADPVRLEFSRDFGATWHLLLPLCYHSSSHVSSLCSTEHHPSSTYYAGTMQGWRREVVHFGKLHLC
  GSVRFRWYQGFYPAGSQPVTWAIDNVYIGPQCEEMCNGQGSCINGTKCICDPGYSGPTCKISTKNPDFLKDDFEG
  QLESDRFLLMSGGKPSRKCGILSSGNNLFFNEDGLRMLMTRDLDLSHARFVQFFMRLGCGKGVPDPRSQPVLLQY
  SLNGGLSWSLLQEFLFSNSSNVGRYIALEIPLKARSGSTRLRWWQPSENGHFYSPWVIDQILIGGNISGNTVLED
  DFTTLDSRKWLLHPGGTKMPVCGSTGDALVFIEKASTRYVVSTDVAVNEDSFLQIDFAASCSVTDSCYAIELEYS
  VDLGLSWHPLVRDCLPTNVECSRYHLQRILVSDTFNKWTRITLPLPPYTRSQATRFRWHQPAPFDKQQTWAIDNV
  YIGDGCIDMCSGHGRCIQGNCVCDEQWGGLYCDDPETSLPTQLKDNFNRAPSSQNWLTVNGGKLSTVCGAVASGM
  ALHFSGGCSRLLVTVDLNLTNAEFIQFYFMYGCLITPNNRNQGVLLEYSVNGGITWNLLMEIFYDQYSKPGFVNI
  LLPPDAKEIATRFRWWQPRHDGLDQNDWAIDNVLISGSADQRTVMLDTFSSAPVPQHERSPADAGPVGRIAFDMF
  MEDKTSVNEHWLFHDDCTVERFCDSPDGVMLCGSHDGREVYAVTHDLTPTEGWIMQFKISVGCKVSEKIAQNQIH
  VQYSTDFGVSWNYLVPQCLPADPKCSGSVSQPSVFFPTKGWKRITYPLPESLVGNPVRFRFYQKYSDMQWAIDNF
  YLGPGCLDNCRGHGDCLREQCICDPGYSGPNCYLTHTLKTFLKERFDSEEIKPDLWMSLEGGSTCTECGILAEDT
  ALYFGGSTVRQAVTQDLDLRGAKFLQYWGRIGSENNMTSCHRPICRKEGVLLDYSTDGGITWTLLHEMDYQKYIS
  VRHDYILLPEDALTNTTRLRWWQPFVISNGIVVSGVERAQWALDNILIGGAEINPSQLVDTFDDEGTSHEENWSF
  YPNAVRTAGFCGNPSFHLYWPNKKKDKTHNALSSRELIIQPGYMMQFKIVVGCEATSCGDLHSVMLEYTKDARSD
  SWQLVQTQCLPSSSNSIGCSPFQFHEATIYNSVNSSSWKRITIQLPDHVSSSATQFRWIQKGEETEKQSWAIDHV
  YIGEACPKLCSGHGYCTTGAICICDESFQGDDCSVFSHDLPSYIKDNFESARVTEANWETIQGGVIGSGCGQLAP
  YAHGDSLYFNGCQIRQAATKPLDLTRASKIMFVLQIGSMSQTDSCNSDLSGPHAVDKAVLLQYSVNNGITWHVIA
  QHQPKDFTQAQRVSYNVPLEARMKGVLLRWWQPRHNGTGHDQWALDHVEVVLVSTRKQNYMMNFSRQHGLRHFYN
  RRRRSLRRYP

• Structural information:
  • Protein Domains: (26..19-)
    (/note="Reelin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00363-)
    (670..70-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (1029..106-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR013032  IPR000742  IPR041161  IPR008979  IPR002861   IPR042307  IPR034968  IPR036278  
  • Prosite: PS00022 PS01186 PS50026 PS51019
  • CDD: cd08544
  • STRING: ENSP00000392423
• Other Databases: GeneCards:  RELN  Malacards:  RELN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070325	lipoprotein particle receptor binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0007417	central nervous system development	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0001764	neuron migration	IBA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0070325	lipoprotein particle receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:1902078	positive regulation of lateral motor column neuron migration	IEA	biological process
GO:0097477	lateral motor column neuron migration	IEA	biological process
GO:0097120	receptor localization to synapse	IEA	biological process
GO:0097119	postsynaptic density protein 95 clustering	IEA	biological process
GO:0097114	NMDA glutamate receptor clustering	IEA	biological process
GO:0070326	very-low-density lipoprotein particle receptor binding	IEA	molecular function
GO:0070325	lipoprotein particle receptor binding	IEA	molecular function
GO:0061003	positive regulation of dendritic spine morphogenesis	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0051968	positive regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0050795	regulation of behavior	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0032793	positive regulation of CREB transcription factor activity	IEA	biological process
GO:0032008	positive regulation of TOR signaling	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0021819	layer formation in cerebral cortex	IEA	biological process
GO:0021800	cerebral cortex tangential migration	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:2000969	positive regulation of AMPA receptor activity	IEA	biological process
GO:2000310	regulation of NMDA receptor activity	IEA	biological process
GO:1900273	positive regulation of long-term synaptic potentiation	IEA	biological process
GO:0090129	positive regulation of synapse maturation	IEA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0051057	positive regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0038026	reelin-mediated signaling pathway	IEA	biological process
GO:0035418	protein localization to synapse	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0021517	ventral spinal cord development	IEA	biological process
GO:0021511	spinal cord patterning	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0008306	associative learning	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000904	cell morphogenesis involved in differentiation	IEA	biological process
GO:0070325	lipoprotein particle receptor binding	ISS	molecular function
GO:0070326	very-low-density lipoprotein particle receptor binding	ISS	molecular function
GO:0021766	hippocampus development	ISS	biological process
GO:0032793	positive regulation of CREB transcription factor activity	ISS	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0050795	regulation of behavior	ISS	biological process
GO:0051968	positive regulation of synaptic transmission, glutamatergic	ISS	biological process
GO:0061003	positive regulation of dendritic spine morphogenesis	ISS	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0038026	reelin-mediated signaling pathway	ISS	biological process
GO:0050804	modulation of chemical synaptic transmission	ISS	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	ISS	biological process
GO:0090129	positive regulation of synapse maturation	ISS	biological process
GO:1900273	positive regulation of long-term synaptic potentiation	ISS	biological process
GO:2000310	regulation of NMDA receptor activity	ISS	biological process
GO:2000969	positive regulation of AMPA receptor activity	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0051057	positive regulation of small GTPase mediated signal transduction	ISS	biological process
GO:0048265	response to pain	ISS	biological process
GO:0021511	spinal cord patterning	ISS	biological process
GO:0010001	glial cell differentiation	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0001764	neuron migration	ISS	biological process
GO:0021800	cerebral cortex tangential migration	ISS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0045860	positive regulation of protein kinase activity	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0000904	cell morphogenesis involved in differentiation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa05017	Spinocerebellar ataxia
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Lissencephaly	KEGG:H00268
Familial epilepsy temporal lobe	KEGG:H00809
Lissencephaly	KEGG:H00268
Familial epilepsy temporal lobe	KEGG:H00809
Alzheimer's disease	PMID:12645087
autistic disorder	PMID:15820235
autistic disorder	PMID:20436377
autistic disorder	PMID:11317216
Down syndrome	PMID:20025970
Bipolar disorder	PMID:11126396
Temporal lobe epilepsy	PMID:19287316
Schizophrenia	PMID:11126396
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq