AutismKB 2.0

Annotation Details for KEL


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Basic Information Top
Gene Symbol:KEL ( CD238,ECE3 )
Gene Full Name: Kell blood group, metallo-endopeptidase
Band: 7q34
Quick LinksEntrez ID:3792; OMIM: 110900; Uniprot ID:KELL_HUMAN; ENSEMBL ID: ENSG00000197993; HGNC ID: 6308
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016021TAS-integral component of membrane9647734
GO ID Evidence Qualifier GO_term References
GO:0004222IDA-metalloendopeptidase activity15769748
GO:0005515IPI-protein binding7737196
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0006874IEA-cellular calcium ion homeostasis-
GO:0008361IEA-regulation of cell size-
GO:0010961IEA-cellular magnesium ion homeostasis-
GO:0031133IEA-regulation of axon diameter-
GO:0042310TAS-vasoconstriction15769748
GO:0042552IEA-myelination-
GO:0048741IEA-skeletal muscle fiber development-
GO:1901380IEA-negative regulation of potassium ion transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KELEWSR110843116189514 Two-hybrid
KELEWSR110999316189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1346053
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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