AutismKB 2.0

Annotation Details for UPK3A


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Basic Information Top
Gene Symbol:UPK3A ( MGC119178,UP3A,UPIII,UPIIIA,UPK3 )
Gene Full Name: uroplakin 3A
Band: 22q13.31
Quick LinksEntrez ID:7380; OMIM: 611559; Uniprot ID:UPK3A_HUMAN; ENSEMBL ID: ENSG00000100373; HGNC ID: 12580
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO:0016324IEA-apical plasma membrane-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0000902IEA-cell morphogenesis-
GO:0001822IEA-kidney development-
GO:0006833IEA-water transport-
GO:0015840IEA-urea transport-
GO:0030855IDA-epithelial cell differentiation10514386
GO:0055075IEA-potassium ion homeostasis-
GO:0055078IEA-sodium ion homeostasis-
GO:0060157IEA-urinary bladder development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UPK3AUPK1B11319512475947 Affinity Capture-Western
UPK3AUPK1B11322612475947 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98914
  • 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