UPK3A (uroplakin 3A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7380
Gene name Uroplakin 3A
Gene symbol UPK3A
Synonyms (NCBI Gene)
UP3AUPIIIUPIIIAUPK3
Chromosome 22
Chromosome location 22q13.31
Summary This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript var
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs786205558 G>A Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT1476346 hsa-miR-1205 CLIP-seq
MIRT1476347 hsa-miR-1909 CLIP-seq
MIRT1476348 hsa-miR-2861 CLIP-seq
MIRT1476349 hsa-miR-3918 CLIP-seq
MIRT1476350 hsa-miR-4512 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001822 Process Kidney development IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611559 12580 ENSG00000100373
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75631
Protein name Uroplakin-3a (UP3a) (Uroplakin III) (UPIII)
Protein function Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in ureter. {ECO:0000269|PubMed:9846985}.
Sequence 
MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHE
VYLYVLVDSAISRNASVQDSTNTPLGSTFLQTEGGRTGPYKAVAFDLIPCSDLPSLDAIG
DVSKASQILNAYLVRVGANGTCLWDPNFQGLCNAPLSAATEYRFKYVLVNMSTGLVEDQT
LWSDPIRTNQLTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGFAGAIALSLVDMGSS
DGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD
Sequence length 287
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Bladder cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital anomalies of kidney and urinary tract 1 Uncertain significance rs121918186, rs121918187 RCV000000921
RCV000000923
Familial cancer of breast Benign; Likely benign rs145723454 RCV005907715
Renal hypodysplasia/aplasia 1 Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs121918186, rs558490093, rs145186308, rs199656309, rs765876533, rs2673088, rs1057353, rs147609981, rs140649681, rs570266965, rs201838809, rs138918236, rs112177270, rs116162068, rs147406393
View all (22 more)		 RCV001150740
RCV000000922
RCV000341617
RCV000286600
RCV000395431
RCV000298070
RCV000313780
RCV000328730
RCV000270283
RCV000281110
RCV000405375
RCV000337872
RCV000379011
RCV000381013
RCV000353424
RCV000395437
RCV000368432
RCV000273646
RCV000364782
RCV000375664
RCV000326866
RCV000282838
RCV000324483
RCV000284484
RCV000320884
RCV000336272
RCV001149232
RCV001144533
RCV001149231
RCV001150624
RCV001144534
RCV001144535
RCV001144536
RCV001146457
RCV001146458
RCV001150739
RCV001144632
RCV001149233
UPK3A-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs121918186, rs558490093, rs1253660910, rs150598171, rs117722381, rs116255517, rs767544217, rs765876533, rs147406393, rs374008042, rs147247708, rs761759676, rs112177270 RCV003415610
RCV003934789
RCV003402876
RCV003397632
RCV003911793
RCV003912285
RCV003899342
RCV003401363
RCV003969987
RCV003392215
RCV003902489
RCV003403156
RCV003940761
RCV003918735
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Intraductal Noninfiltrating Associate 22887771
Carcinoma Squamous Cell Associate 23106579
Carcinoma Transitional Cell Associate 7485401, 9818021
Cystitis Interstitial Associate 23670165, 32377607
Lung Neoplasms Associate 23106579
Neoplasms Associate 25743828
Pagetoid Reticulosis Associate 30711015
Prostatic Hyperplasia Stimulate 34944460
Prostatic Neoplasms Associate 27409348
Stomach Neoplasms Stimulate 35774082