Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5649
Gene name	Reelin
Gene symbol	RELN
Synonyms (NCBI Gene)	ETL7LIS2PRO1598RL
Chromosome	7
Chromosome location	7q22.1
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 disorde

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SNP ID	Visualize variation	Clinical significance	Consequence
rs362800	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs3025962	T>C	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs55656324	CGCCGCCGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCC	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign, benign-likely-benign	Inframe insertion, 5 prime UTR variant
rs55693709	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs56342240	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs78480723	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79161241	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79499902	C>T	Likely-benign, benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant
rs113242008	G>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113998363	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114389730	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114620008	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114647348	G>C	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114684479	G>T	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114807343	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137974322	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139102992	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139321058	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139648092	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs141387255	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143050366	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144557847	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146749232	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146922726	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147496823	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs147933593	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs149121159	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150236371	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150743664	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs188372756	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200289289	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200299096	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201044262	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369993428	T>C	Pathogenic	Missense variant, coding sequence variant
rs372473867	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs375230548	T>C,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398124191	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs544717229	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs554215103	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs560704715	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587780435	G>T	Pathogenic	Coding sequence variant, stop gained
rs587780436	->GGAGAGTGGAAGGT	Pathogenic	Coding sequence variant, frameshift variant
rs587780437	C>T	Pathogenic	Splice donor variant
rs746613525	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755634872	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760019076	T>C	Pathogenic	Coding sequence variant, missense variant
rs764121311	T>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs768119894	T>C	Pathogenic	Coding sequence variant, missense variant
rs794727996	G>T	Pathogenic	Coding sequence variant, missense variant
rs794727998	T>C	Pathogenic	Coding sequence variant, missense variant
rs797045000	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045912	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045915	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223389	C>T	Pathogenic	Coding sequence variant, missense variant
rs869320767	C>T	Pathogenic	Splice donor variant
rs1057517814	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518108	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554397852	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554404013	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554404337	G>TGACCCTGAATAACTAAAGCTGGGGTCTGAATA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554404338	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554453517	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562961475	C>T	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001071	hsa-miR-128-3p	qRT-PCRWestern blot	19713529
MIRT001071	hsa-miR-128-3p	qRT-PCRWestern blot	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT007273	hsa-miR-138-5p	Luciferase reporter assay	23438760
MIRT007273	hsa-miR-138-5p	Luciferase reporter assay	23438760
MIRT047548	hsa-miR-10a-5p	CLASH	23622248
MIRT1300214	hsa-miR-1200	CLIP-seq
MIRT1300215	hsa-miR-1253	CLIP-seq
MIRT1300216	hsa-miR-128	CLIP-seq
MIRT1300217	hsa-miR-205	CLIP-seq
MIRT1300218	hsa-miR-27a	CLIP-seq
MIRT1300219	hsa-miR-27b	CLIP-seq
MIRT1300220	hsa-miR-3074-5p	CLIP-seq
MIRT1300221	hsa-miR-3145-3p	CLIP-seq
MIRT1300222	hsa-miR-3153	CLIP-seq
MIRT1300223	hsa-miR-3154	CLIP-seq
MIRT1300224	hsa-miR-3158-3p	CLIP-seq
MIRT1300225	hsa-miR-34b	CLIP-seq
MIRT1300226	hsa-miR-3691-3p	CLIP-seq
MIRT1300227	hsa-miR-4302	CLIP-seq
MIRT1300228	hsa-miR-4648	CLIP-seq
MIRT1300229	hsa-miR-4654	CLIP-seq
MIRT1300230	hsa-miR-4668-5p	CLIP-seq
MIRT1300231	hsa-miR-4769-5p	CLIP-seq
MIRT1300232	hsa-miR-513a-5p	CLIP-seq
MIRT1300233	hsa-miR-580	CLIP-seq
MIRT1300234	hsa-miR-185	CLIP-seq
MIRT1300235	hsa-miR-186	CLIP-seq
MIRT1300236	hsa-miR-4306	CLIP-seq
MIRT1300237	hsa-miR-4644	CLIP-seq
MIRT1300238	hsa-miR-4717-3p	CLIP-seq
MIRT1300239	hsa-miR-4781-3p	CLIP-seq
MIRT1300240	hsa-miR-7	CLIP-seq
MIRT2089223	hsa-miR-331-5p	CLIP-seq
MIRT2089224	hsa-miR-4275	CLIP-seq
MIRT2089225	hsa-miR-4635	CLIP-seq
MIRT2089226	hsa-miR-4678	CLIP-seq
MIRT2089227	hsa-miR-4775	CLIP-seq
MIRT2089228	hsa-miR-526b	CLIP-seq
MIRT2089229	hsa-miR-590-3p	CLIP-seq
MIRT1300225	hsa-miR-34b	CLIP-seq

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Transcription factor	Regulation	Reference
DNMT1	Repression	19029285
HDAC1	Repression	19029285
MECP2	Repression	19029285
TBR1	Unknown	19165920

112

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000902	Process	Cell morphogenesis	ISS
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISO
GO:0005615	Component	Extracellular space	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0007612	Process	Learning	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	ISS
GO:0008306	Process	Associative learning	IEA
GO:0008306	Process	Associative learning	ISS
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016358	Process	Dendrite development	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021511	Process	Spinal cord patterning	IEA
GO:0021511	Process	Spinal cord patterning	ISS
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021800	Process	Cerebral cortex tangential migration	IEA
GO:0021800	Process	Cerebral cortex tangential migration	ISS
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	ISS
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035418	Process	Protein localization to synapse	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	ISS	10571240
GO:0038026	Process	Reelin-mediated signaling pathway	NAS	21844191
GO:0043005	Component	Neuron projection	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0045664	Process	Regulation of neuron differentiation	NAS	28887403
GO:0046872	Function	Metal ion binding	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	ISS
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050795	Process	Regulation of behavior	IEA
GO:0050795	Process	Regulation of behavior	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0060025	Process	Regulation of synaptic activity	NAS	28887403
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0070325	Function	Lipoprotein particle receptor binding	IBA
GO:0070325	Function	Lipoprotein particle receptor binding	IEA
GO:0070325	Function	Lipoprotein particle receptor binding	ISS	10571240
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	IEA
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	ISS	10571240
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:0097107	Process	Postsynaptic density assembly	IEA
GO:0097107	Process	Postsynaptic density assembly	ISS
GO:0097114	Process	NMDA glutamate receptor clustering	IEA
GO:0097114	Process	NMDA glutamate receptor clustering	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	IEA
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:0097120	Process	Receptor localization to synapse	IEA
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0097475	Process	Motor neuron migration	IEA
GO:0097477	Process	Lateral motor column neuron migration	IEA
GO:0110157	Component	Reelin complex	IDA	21844191
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1902078	Process	Positive regulation of lateral motor column neuron migration	IEA
GO:1904936	Process	Interneuron migration	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2001222	Process	Regulation of neuron migration	ISS
GO:2001222	Process	Regulation of neuron migration	NAS	28887403

MIM	HGNC	e!Ensembl
600514	9957	ENSG00000189056

P78509

Protein name

Reelin (EC 3.4.21.-)

Protein function

Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment. Regulates microtubule function in neurons a

PDB

8G21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02014	Reeler	41 → 170	Reeler domain	Family
PF18720	EGF_Tenascin	3230 → 3259	Tenascin EGF domain	Domain

Tissue specificity

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

MERSGWARQTFLLALLLGATLRARAAAGYYPRFSPFFFLCTHHGELEGDGEQGEVLISLH
IAGNPTYYVPGQEYHVTISTSTFFDGLLVTGLYTSTSVQASQSIGGSSAFGFGIMSDHQF
GNQFMCSVVASHVSHLPTTNLSFIWIAPPAGTGCVNFMATATHRGQVIFKDALAQQLCEQ
GAPTDVTVHPHLAEIHSDSIILRDDFDSYHQLQLNPNIWVECNNCETGEQCGAIMHGNAV
TFCEPYGPRELITTGLNTTTASVLQFSIGSGSCRFSYSDPSIIVLYAKNNSADWIQLEKI
RAPSNVSTIIHILYLPEDAKGENVQFQWKQENLRVGEVYEACWALDNILIINSAHRQVVL
EDSLDPVDTGNWLFFPGATVKHSCQSDGNSIYFHGNEGSEFNFATTRDVDLSTEDIQEQW
SEEFESQPTGWDVLGAVIGTECGTIESGLSMVFLKDGERKLCTPSMDTTGYGNLRFYFVM
GGICDPGNSHENDIILYAKIEGRKEHITLDTLSYSSYKVPSLVSVVINPELQTPATKFCL
RQKNHQGHNRNVWAVDFFHVLPVLPSTMSHMIQFSINLGCGTHQPGNSVSLEFSTNHGRS
WSLLHTECLPEICAGPHLPHSTVYSSENYSGWNRITIPLPNAALTRNTRIRWRQTGPILG
NMWAIDNVYIGPSCLKFCSGRGQCTRHGCKCDPGFSGPACEMASQTFPMFISESFGSSRL
SSYHNFYSIRGAEVSFGCGVLASGKALVFNKDGRRQLITSFLDSSQSRFLQFTLRLGSKS
VLSTCRAPDQPGEGVLLHYSYDNGITWKLLEHYSYLSYHEPRIISVELPGDAKQFGIQFR
WWQPYHSSQREDVWAIDEIIMTSVLFNSISLDFTNLVEVTQSLGFYLGNVQPYCGHDWTL
CFTGDSKLASSMRYVETQSMQIGASYMIQFSLVMGCGQKYTPHMDNQVKLEYSTNHGLTW
HLVQEECLPSMPSCQEFTSASIYHASEFTQWRRVIVLLPQKTWSSATRFRWSQSYYTAQD
EWALDSIYIGQQCPNMCSGHGSCDHGICRCDQGYQGTECHPEAALPSTIMSDFENQNGWE
SDWQEVIGGEIVKPEQGCGVISSGSSLYFSKAGKRQLVSWDLDTSWVDFVQFYIQIGGES
ASCNKPDSREEGVLLQYSNNGGIQWHLLAEMYFSDFSKPRFVYLELPAAAKTPCTRFRWW
QPVFSGEDYDQWAVDDIIILSEKQKQIIPVINPTLPQNFYEKPAFDYPMNQMSVWLMLAN
EGMVKNETFCAATPSAMIFGKSDGDRFAVTRDLTLKPGYVLQFKLNIGCANQFSSTAPVL
LQYSHDAGMSWFLVKEGCYPASAGKGCEGNSRELSEPTMYHTGDFEEWTRITIVIPRSLA
SSKTRFRWIQESSSQKNVPPFGLDGVYISEPCPSYCSGHGDCISGVCFCDLGYTAAQGTC
VSNVPNHNEMFDRFEGKLSPLWYKITGAQVGTGCGTLNDGKSLYFNGPGKREARTVPLDT
RNIRLVQFYIQIGSKTSGITCIKPRTRNEGLIVQYSNDNGILWHLLRELDFMSFLEPQII
SIDLPQDAKTPATAFRWWQPQHGKHSAQWALDDVLIGMNDSSQTGFQDKFDGSIDLQANW
YRIQGGQVDIDCLSMDTALIFTENIGKPRYAETWDFHVSASTFLQFEMSMGCSKPFSNSH
SVQLQYSLNNGKDWHLVTEECVPPTIGCLHYTESSIYTSERFQNWKRITVYLPLSTISPR
TRFRWIQANYTVGADSWAIDNVVLASGCPWMCSGRGICDAGRCVCDRGFGGPYCVPVVPL
PSILKDDFNGNLHPDLWPEVYGAERGNLNGETIKSGTSLIFKGEGLRMLISRDLDCTNTM
YVQFSLRFIAKSTPERSHSILLQFSISGGITWHLMDEFYFPQTTNILFINVPLPYTAQTN
ATRFRLWQPYNNGKKEEIWIVDDFIIDGNNVNNPVMLLDTFDFGPREDNWFFYPGGNIGL
YCPYSSKGAPEEDSAMVFVSNEVGEHSITTRDLNVNENTIIQFEINVGCSTDSSSADPVR
LEFSRDFGATWHLLLPLCYHSSSHVSSLCSTEHHPSSTYYAGTMQGWRREVVHFGKLHLC
GSVRFRWYQGFYPAGSQPVTWAIDNVYIGPQCEEMCNGQGSCINGTKCICDPGYSGPTCK
ISTKNPDFLKDDFEGQLESDRFLLMSGGKPSRKCGILSSGNNLFFNEDGLRMLMTRDLDL
SHARFVQFFMRLGCGKGVPDPRSQPVLLQYSLNGGLSWSLLQEFLFSNSSNVGRYIALEI
PLKARSGSTRLRWWQPSENGHFYSPWVIDQILIGGNISGNTVLEDDFTTLDSRKWLLHPG
GTKMPVCGSTGDALVFIEKASTRYVVSTDVAVNEDSFLQIDFAASCSVTDSCYAIELEYS
VDLGLSWHPLVRDCLPTNVECSRYHLQRILVSDTFNKWTRITLPLPPYTRSQATRFRWHQ
PAPFDKQQTWAIDNVYIGDGCIDMCSGHGRCIQGNCVCDEQWGGLYCDDPETSLPTQLKD
NFNRAPSSQNWLTVNGGKLSTVCGAVASGMALHFSGGCSRLLVTVDLNLTNAEFIQFYFM
YGCLITPNNRNQGVLLEYSVNGGITWNLLMEIFYDQYSKPGFVNILLPPDAKEIATRFRW
WQPRHDGLDQNDWAIDNVLISGSADQRTVMLDTFSSAPVPQHERSPADAGPVGRIAFDMF
MEDKTSVNEHWLFHDDCTVERFCDSPDGVMLCGSHDGREVYAVTHDLTPTEGWIMQFKIS
VGCKVSEKIAQNQIHVQYSTDFGVSWNYLVPQCLPADPKCSGSVSQPSVFFPTKGWKRIT
YPLPESLVGNPVRFRFYQKYSDMQWAIDNFYLGPGCLDNCRGHGDCLREQCICDPGYSGP
NCYLTHTLKTFLKERFDSEEIKPDLWMSLEGGSTCTECGILAEDTALYFGGSTVRQAVTQ
DLDLRGAKFLQYWGRIGSENNMTSCHRPICRKEGVLLDYSTDGGITWTLLHEMDYQKYIS
VRHDYILLPEDALTNTTRLRWWQPFVISNGIVVSGVERAQWALDNILIGGAEINPSQLVD
TFDDEGTSHEENWSFYPNAVRTAGFCGNPSFHLYWPNKKKDKTHNALSSRELIIQPGYMM
QFKIVVGCEATSCGDLHSVMLEYTKDARSDSWQLVQTQCLPSSSNSIGCSPFQFHEATIY
NSVNSSSWKRITIQLPDHVSSSATQFRWIQKGEETEKQSWAIDHVYIGEACPKLCSGHGY
CTTGAICICDESFQGDDCSVFSHDLPSYIKDNFESARVTEANWETIQGGVIGSGCGQLAP
YAHGDSLYFNGCQIRQAATKPLDLTRASKIMFVLQIGSMSQTDSCNSDLSGPHAVDKAVL
LQYSVNNGITWHVIAQHQPKDFTQAQRVSYNVPLEARMKGVLLRWWQPRHNGTGHDQWAL
DHVEVVLVSTRKQNYMMNFSRQHGLRHFYNRRRRSLRRYP

Sequence length

3460

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Spinocerebellar ataxia Human papillomavirus infection		Reelin signalling pathway

6151

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs2485205855	RCV005926758
Familial temporal lobe epilepsy 7	Likely pathogenic; Pathogenic	rs2117168257, rs2117350995, rs2117208388, rs2117248586, rs1226957030, rs2117021067, rs2117139699, rs2117204949, rs2117188195, rs2117255208, rs2117348851, rs2117126444, rs2117205170, rs1829533362, rs2117189408 View all (40 more)	RCV001377913 RCV001377531 RCV001388160 RCV001387211 RCV001882617 RCV001997392 RCV001891799 RCV001864653 RCV001884361 RCV001889850 RCV001996943 RCV002005438 RCV001953630 RCV001902260 RCV001876413 RCV003093859 RCV000180785 RCV000180786 RCV000180787 RCV000180788 RCV002814980 RCV002838234 RCV002847816 RCV002894639 RCV002949211 RCV003007334 RCV003005997 RCV002991616 RCV003035270 RCV003793214 RCV003787825 RCV003784847 RCV003808027 RCV003799536 RCV003805413 RCV003803285 RCV003801027 RCV003796913 RCV003794930 RCV003795117 RCV003800147 RCV003815250 RCV003815329 RCV003807280 RCV003812547 RCV003810559 RCV003812979 RCV003805015 RCV003766808 RCV001062391 RCV001065240 RCV001196095 RCV001228243 RCV001251130 RCV001283755
Lissencephaly	Likely pathogenic	rs1830201852, rs1830268919, rs1831726447, rs1487246488	RCV001291449 RCV001291200 RCV001291199 RCV001291311
Norman-Roberts syndrome	Likely pathogenic; Pathogenic	rs2117168257, rs2117350995, rs2117208388, rs2117248586, rs1226957030, rs2116670615, rs1451240853, rs2117021067, rs2117139699, rs587780435, rs587780436, rs587780437, rs2117204949, rs2117188195, rs2117255208 View all (49 more)	RCV001377913 RCV001377531 RCV001388160 RCV001387211 RCV001882617 RCV001784909 RCV001783681 RCV001997392 RCV001891799 RCV000118138 RCV000118139 RCV000118140 RCV001864653 RCV001884361 RCV001889850 RCV001996943 RCV002005438 RCV001953630 RCV001902260 RCV001876413 RCV003093859 RCV002464044 RCV002814980 RCV002838234 RCV000194711 RCV000192487 RCV002847816 RCV002894639 RCV002949211 RCV003007334 RCV003005997 RCV002991616 RCV003035270 RCV000210930 RCV003123328 RCV000009652 RCV003325325 RCV003793214 RCV003787825 RCV003784847 RCV003808027 RCV003799536 RCV003805413 RCV003803285 RCV003801027 RCV003796913 RCV003794930 RCV003795117 RCV003800147 RCV003815250 RCV003815329 RCV003807280 RCV003812547 RCV003810559 RCV003812979 RCV003805015 RCV003988776 RCV004566601 RCV004566646 RCV003766808 RCV000985069 RCV001062391 RCV001065240 RCV001228243
RELN-related disorder	Likely pathogenic	rs2485717851	RCV003314098
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs751409835, rs369993428	RCV000655998 RCV000656000

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863223388, rs863223389	-
Acute myeloid leukemia	Benign	rs2528862	RCV005919971
Cervical cancer	Benign	rs57844600	RCV005899150
Cholangiocarcinoma	Benign; Likely benign	rs75878120, rs201523300, rs74587625, rs2528875, rs1267959843	RCV005911534 RCV005915309 RCV005918522 RCV005918830 RCV005907188
Clear cell carcinoma of kidney	Likely benign	rs78148514	RCV005917571
Epilepsy	Uncertain significance	rs139892362	RCV005626407
Epilepsy, familial temporal lobe, 1	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs760957004, rs1193525098, rs139648092, rs78008536, rs144653976, rs115577014, rs114190729, rs114019779, rs200010849, rs755596079, rs757726526, rs879182818, rs34125550, rs188302870, rs79610318 View all (65 more)	RCV002499641 RCV002499643 RCV000764677 RCV002490713 RCV000764667 RCV000764664 RCV000765909 RCV002498426 RCV000765905 RCV002476586 RCV002476658 RCV002493985 RCV002506681 RCV002503151 RCV002503166 RCV002477294 RCV000764662 RCV000765913 RCV002498527 RCV002490807 RCV002490808 RCV000515390 RCV002498528 RCV002490809 RCV002505046 RCV002494503 RCV002498255 RCV000765904 RCV002483327 RCV000765907 RCV002505165 RCV002492578 RCV002485126 RCV000764670 RCV000764666 RCV002492759 RCV000765906 RCV002500503 RCV000765901 RCV000765900 RCV000764676 RCV000764669 RCV002485288 RCV000764671 RCV000764674 RCV005399167 RCV005399168 RCV000764673 RCV000765908 RCV002503991 RCV000764675 RCV002488794 RCV000765903 RCV002480241 RCV002488795 RCV002481626 RCV000764663 RCV000765911 RCV000765912 RCV000765910 RCV000765902 RCV002485476 RCV000764672 RCV002499124 RCV000764678 RCV000764665 RCV002507146 RCV002477580 RCV002493357 RCV002493395 RCV005392449 RCV002501086 RCV002482126 RCV002505559 RCV002489575 RCV002479379 RCV002489539 RCV002505622 RCV002484310 RCV005394878
Familial pancreatic carcinoma	Benign	rs55862041	RCV005902205
Gastric cancer	Benign; Likely benign	rs10239666, rs362644, rs114807343, rs1267959843	RCV005918314 RCV005915715 RCV005888453 RCV005907186
Generalized epilepsy with febrile seizures plus, type 2	Uncertain significance	rs1399157725	RCV004555641
Hepatocellular carcinoma	Benign; Likely benign	rs2528862, rs74513461	RCV005919972 RCV005899153
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs150236371, rs116716038, rs143213152, rs143050366, rs116634494, rs1257276738	RCV001252606 RCV001252608 RCV005625332 RCV001252607 RCV001252605 RCV001260879
Lissencephaly, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs146986040, rs55656324, rs34125550, rs187884312, rs886061866, rs564464856, rs2286261, rs35268159	RCV000345309 RCV000378549 RCV000264112 RCV000332260 RCV000361143 RCV000406489 RCV000383981 RCV000294299 RCV000349259 RCV000301496 RCV000323909 RCV000313866 RCV000288339 RCV000347957 RCV000288878 RCV000262648 RCV000273179
Lung cancer	Benign	rs75878120, rs17155347, rs74587625, rs57844600	RCV005911535 RCV005917317 RCV005918523 RCV005899152
Malignant lymphoma, large B-cell, diffuse	Benign	rs362644	RCV005915714
Malignant tumor of esophagus	Likely benign; Benign	rs201523300, rs112225063, rs546154419, rs55862041	RCV005915308 RCV005919756 RCV005901702 RCV005902204
Melanoma	Uncertain significance	rs758747803	RCV005931122
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs1562852978	RCV002274154
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs362763, rs369225933, rs1267959843	RCV005918331 RCV005926039 RCV005907187
Sarcoma	Benign	rs362763	RCV005918330
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs1027894483, rs1482050696, rs138576725, rs2484753562, rs1562954909, rs1023433954, rs1828850685, rs368566543	RCV002252884 RCV002252661 RCV001420628 RCV003128535 RCV003128536 RCV002252194 RCV002252335 RCV002252340
Seizure	Uncertain significance; Conflicting classifications of pathogenicity	rs2117239601, rs201044262	RCV002275917 RCV002274925
Thymoma	Benign	rs74587625, rs2528862, rs57844600	RCV005918521 RCV005919974 RCV005899151
Uterine carcinosarcoma	Benign	rs362644	RCV005915716
Uterine corpus endometrial carcinoma	Benign	rs2528862	RCV005919975
Uveal melanoma	Benign	rs2528862	RCV005919973

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	28142128
Alcoholism	Associate	37350760
Alzheimer Disease	Associate	16567613, 20452100, 22486522, 23951306, 30704480, 35466940, 35886870, 35977442, 36561735, 37467729, 38093390
Alzheimer Disease	Inhibit	30704480
Aphasia	Associate	28142128
Ataxia	Associate	35769015
Autism Spectrum Disorder	Associate	24448211, 28229923, 32393163, 34356069, 35403940, 35668055
Autistic Disorder	Associate	16311013, 18378158, 20442744, 23216241, 23287318, 23575222, 24204716, 35769015, 36039581
Autistic Disorder	Inhibit	23216241, 25067827
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Associate	28142128
Bipolar Disorder	Inhibit	12087179, 19691043
Bipolar Disorder	Associate	19691043, 21603580, 21863557, 25476119, 31540999
Brain Diseases	Associate	18378158, 24395782
Breast Neoplasms	Associate	20847288, 23563089, 24395782, 28210910
Carcinoma Hepatocellular	Inhibit	35034536
Carcinoma Lobular	Associate	27078887
Carcinoma Non Small Cell Lung	Associate	22980976, 32764530, 36497098
Carcinoma Pancreatic Ductal	Associate	18820670
Carcinoma Renal Cell	Associate	28710314
Cerebellar Hypoplasia	Associate	35769015
Chemical and Drug Induced Liver Injury	Associate	28348420
Cleft Lip	Associate	30127215
Cognition Disorders	Associate	19922905, 37350760
Colorectal Neoplasms	Associate	31341364
Coxa Magna	Associate	33542623
Dementia	Associate	20452100
Developmental Disabilities	Associate	35769015
Diabetes Mellitus Type 2	Associate	37680885
Diffuse Neurofibrillary Tangles with Calcification	Associate	20452100
Disease	Associate	21603580
Drug Resistant Epilepsy	Associate	27094248
Epilepsy	Associate	20697953, 28142128, 31020005, 35769015
Epilepsy Temporal Lobe	Associate	12122039, 28633043
Esophageal Neoplasms	Associate	22393371
Eye Neoplasms	Associate	32393163
Glioma	Associate	34479497
Glomerulonephritis	Associate	40629603
Hematologic Neoplasms	Stimulate	39615603
Hepatitis C Chronic	Associate	28348420
Hirschsprung Disease	Associate	27889765
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Inflammation	Associate	39615603
Intellectual Disability	Associate	35769015
Landau Kleffner Syndrome	Associate	24828792
Leukemia Large Granular Lymphocytic	Associate	40629603
Lissencephaly	Associate	35769015
Liver Cirrhosis	Associate	28348420
Medulloblastoma	Associate	36849558
Melanoma	Associate	36497098
Mental Disorders	Associate	21603580, 30022058, 31848032, 34318684, 35769015, 37350760
Mohr Tranebjaerg syndrome	Associate	27094248
Mohr Tranebjaerg syndrome	Stimulate	32764530
Multiple Myeloma	Associate	26848618, 28210910
Neoplasm Metastasis	Associate	22393371, 24395782, 28210910, 36849558
Neoplasm Metastasis	Stimulate	29542868
Neoplasms	Associate	17277764, 22393371, 28210910, 29542868, 32764530, 34932815, 36497098
Nerve Degeneration	Associate	30022058, 31848032
Nervous System Diseases	Associate	19829293
Neuroblastoma	Associate	12087179
Neurodegenerative Diseases	Associate	16567613
Otosclerosis	Associate	19230858, 20882487, 29728750
Pancreatic Intraductal Neoplasms	Associate	18820670
Parkinson Disease	Inhibit	34356083
Personality Disorders	Associate	30285776
Plaque Amyloid	Associate	35466940
Post Acute COVID 19 Syndrome	Stimulate	39615603
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	33615686
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 33615686
Prostatic Neoplasms	Associate	17277764
Psychotic Disorders	Inhibit	12087179
Retinal Vein Occlusion	Associate	36820679
Sarcoma Ewing	Associate	22868000
Sarcoma Kaposi	Associate	31857537
Schizophrenia	Inhibit	12087179, 19691043
Schizophrenia	Associate	17270400, 19922905, 21603580, 21863557, 21876540, 25476119, 30022058, 31540999, 31848032, 35769015
Seizures	Associate	28142128, 33453592
Spinocerebellar Ataxias	Associate	23236151
Spondylitis Ankylosing	Associate	32001840
Stomach Neoplasms	Inhibit	20847288
Tobacco Use Disorder	Associate	31294817
Tremor	Associate	35769015
Trigeminal Neuralgia	Associate	28142128
Urinary Bladder Neoplasms	Associate	38307969
Vertigo	Associate	28142128
Vision Disorders	Associate	28142128

RELN (reelin)