AutismKB 2.0

Annotation Details for RLTPR


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Basic Information Top
Gene Symbol:RLTPR ( CARMIL2,CARMIL2b,LRRC16C )
Gene Full Name: RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing
Band: 16q22.1
Quick LinksEntrez ID:146206; OMIM: 610859; Uniprot ID:LR16C_HUMAN; ENSEMBL ID: ENSG00000159753; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001726IDA-ruffle26466680
GO:0005737IDA-cytoplasm19846667
GO:0005886IDA-plasma membrane26578515
GO:0015629IDA-actin cytoskeleton26578515
GO:0016020IDA-membrane19946888
GO:0030027IDA-lamellipodium26578515
GO:0031234NAS-extrinsic component of cytoplasmic side of plasma membrane26578515
GO:0031252IDA-cell leading edge26466680
GO:0044354IDA-macropinosome26578515
GO:0045111IDA-intermediate filament cytoskeleton19846667
GO ID Evidence Qualifier GO_term References
GO:0005543IDA-phospholipid binding26578515
GO:0032403IDA-protein complex binding26466680
GO ID Evidence Qualifier GO_term References
GO:0007163IDA-establishment or maintenance of cell polarity19846667
GO:0010592IDA-positive regulation of lamellipodium assembly26466680
GO:0030011IEA-maintenance of cell polarity-
GO:0030335IDA-positive regulation of cell migration19846667
GO:0044319IDA-wound healing, spreading of cells26466680
GO:0051639IDA-actin filament network formation26466680
GO:0061339IDA-establishment or maintenance of monopolar cell polarity26466680
GO:0090091IDA-positive regulation of extracellular matrix disassembly26466680
GO:1900029IDA-positive regulation of ruffle assembly26466680
GO:1902745IDA-positive regulation of lamellipodium organization26578515
GO:2000813IDA-negative regulation of barbed-end actin filament capping26466680
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018