AutismKB 2.0

Annotation Details for SPRR2D


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Basic Information Top
Gene Symbol:SPRR2D ( - )
Gene Full Name: small proline-rich protein 2D
Band: 1q21.3
Quick LinksEntrez ID:6703; OMIM: NA; Uniprot ID:SPR2D_HUMAN; ENSEMBL ID: ENSG00000163216; HGNC ID: 11264
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001533IBA-cornified envelope-
GO:0001533TAS-cornified envelope-
GO:0005737IDA-cytoplasm3133554
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005198IBA-structural molecule activity-
GO ID Evidence Qualifier GO_term References
GO:0008544NAS-epidermis development8325635
GO:0018149IBA-peptide cross-linking-
GO:0030216IBA-keratinocyte differentiation-
GO:0070268TAS-cornification-
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