AutismKB


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Annotation Detail for RELN


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Basic Information Top
Gene Symbol:RELN ( PRO1598,RL )
Gene Full Name: reelin
Band: 7q22
Quick LinksEntrez ID:5649; OMIM: 600514; Uniprot ID:RELN_HUMAN; ENSEMBL ID: ENSG00000189056
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576IEA-extracellular region-
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005615ISS-extracellular space-
GO:0005737ISS-cytoplasm-
GO:0030425ISS-dendrite-
GO ID Evidence Qualifier GO_term References
GO:0004712ISS-protein serine/threonine/tyrosine kinase activity-
GO:0008233IEA-peptidase activity-
GO:0008236IEA-serine-type peptidase activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0000904ISS-cell morphogenesis involved in differentiation-
GO:0001764ISS-neuron migration-
GO:0007155IEA-cell adhesion-
GO:0007275IEA-multicellular organismal development-
GO:0007411ISS-axon guidance-
GO:0007417ISS-central nervous system development-
GO:0007420ISS-brain development-
GO:0010001ISS-glial cell differentiation-
GO:0018108ISS-peptidyl-tyrosine phosphorylation-
GO:0021511ISS-spinal cord patterning-
GO:0021800ISS-cerebral cortex tangential migration-
GO:0045860ISS-positive regulation of protein kinase activity-
GO:0048265ISS-response to pain-
GO:0051057ISS-positive regulation of small GTPase mediated signal transduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
VLDLRRELN11327710571241 12670700 12899622 Affinity Capture-Western; Reconstituted Complex
VLDLRRELN11163010571241 12670700 12899622 Affinity Capture-Western; Reconstituted Complex
RELNRELN11163012135781 Affinity Capture-Western
LRP8RELN11357912670700 12899622 Affinity Capture-Western; Reconstituted Complex
LRP8RELN11163012670700 12899622 Affinity Capture-Western; Reconstituted Complex
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_100061 chr7:103013655-103015139 19546169 ABI SOLiD Sequencing 0 1 1- 1 male Yoruban Individual from Ibadan Nigeria RELN
Variation_52041 chr7:103162673-103167133 19592680 Illumina HumanHap550 V1 BeadChip 0 2 2- 2, 026 healthy controls RELN
Variation_9581 chr7:103404113-103408368 17921354 Illumina HumanHap550 BeadChip 2 2- 112 control samples (HapMap) RELN
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_62706 chr7:103250082-103250785 19470904 Illumina DNA sequencing 0 1 1- 1 male Korean individual, SJK RELN
Variation_42600 chr7:103250236-103250745 18987735 Illumina DNA sequencing 0 1 1- 1 male Han Chinese individual RELN
Variation_41007 chr7:103250302-103250624 18421352 Sequencing 0 1 1- 1 control sample (JD_Watson) RELN
Variation_109161 chr7:103250312-103250633 20482838 Sequence trace read mapping 0 1 1- 1 control sample (J. Craig Venter) RELN
Variation_28403 chr7:103250316-103250638 17803354 Sequencing 0 1 1- 1 control sample (HuRef) RELN
Variation_47197 chr7:103250317-103250623 18987734 Illumina DNA sequencing 0 1 1- 1 male Yoruba individual from Ibadan Nigeria RELN
Variation_52043 chr7:103354761-103355110 19592680 Illumina HumanHap550 V1 BeadChip 0 2 2- 2, 026 healthy controls RELN
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
RELNRELN_VNTR, rs2229864, rs607755 Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
RELND7S2504, D7S3120, D7S792, RELNSAT2, RELNSAT3, RELNSAT4, RELNSAT6, RELNSAT7, RELN_G888C, RELN_[CCG]n, rs1008126, rs10245317, rs10276794, rs10435337, rs10487167, rs1123034, rs11496125, rs11761011, rs11766205, rs11977571, rs123712, rs123713, rs123714, rs12537578, rs12538423, rs12539504, rs12671505, rs12705141, rs12705170, rs13232021, rs13239238, rs144525, rs1476446, rs1510846, rs1541329, rs155333, rs16872603, rs17155888, rs17157125, rs17281921, rs1858782, rs1963647, rs1978198, rs2072402, rs2106173, rs2245617, rs2247776, rs2249372, rs2256504, rs2256670, rs2283029, rs2299338, rs2299356, rs2528864, rs2528866, rs2535764, rs262341, rs262354, rs262355, rs262359, rs262365, rs262375, rs264373, rs362644, rs362646, rs362695, rs362698, rs362719, rs362726, rs362731, rs362732, rs362784, rs362791, rs362794, rs3735630, rs3808035, rs3819479, rs3857816, rs3919520, rs39334, rs39339, rs39341, rs39345, rs39382, rs39399, rs39400, rs4236562, rs4298437, rs4483088, rs4727582, rs4729941, rs475880, rs499953, rs540058, rs563264, rs565901, rs579030, rs580884, rs635245, rs6465938, rs650974, rs661492, rs661575, rs694894, rs6954479, rs6958081, rs6960198, rs6965133, rs6972426, rs727708, rs7341475, rs736707, rs7798414, rs7808549, rs802786, rs802787, rs885995, rs886803, rs977639 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:103022
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1856398Reln[rl]Allele from Mouse Spontaneous
  • nervous system phenotype
  • growth/size phenotype
  • digestive/alimentary phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
MGI:1856416Reln[rl-Orl]Allele from Mouse Spontaneous
  • nervous system phenotype
MGI:1856417Reln[rl-tg]Allele from Mouse Transgenic (random, gene disruption)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:1856418Reln[rl-Alb]Allele from Mouse Chemically induced (other)
-
MGI:1856543Reln[rl-2J]Allele from Mouse Spontaneous
  • nervous system phenotype
  • vision/eye phenotype
MGI:1857345Reln[rl-Alb2]Allele from Mouse Chemically induced (other)
  • behavior/neurological phenotype
MGI:2156492Reln[rl-od]Allele from Mouse Spontaneous
  • nervous system phenotype
  • growth/size phenotype
  • behavior/neurological phenotype
MGI:3051628Reln[rl-4J]Allele from Mouse Spontaneous
  • nervous system phenotype
  • growth/size phenotype
  • behavior/neurological phenotype
MGI:3579800Reln[rl-5J]Allele from Mouse Spontaneous
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3611331Reln[rl-6J]Allele from Mouse Chemically induced (ENU)
  • nervous system phenotype
  • muscle phenotype
  • behavior/neurological phenotype
MGI:3757710Reln[rl-7J]Allele from Mouse Spontaneous
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3814321Reln[rl-8J]Allele from Mouse Chemically induced (ENU)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:4364398Reln[tm1a(KOMP)Wtsi]Mutant from cell lines25412
-
MGI:4365080Reln[tm1e(KOMP)Wtsi]Mutant from cell lines25412
-
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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