UPK3A (uroplakin 3A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7380
Gene name Gene Name - the full gene name approved by the HGNC.
Uroplakin 3A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UPK3A
Synonyms (NCBI Gene) Gene synonyms aliases
UP3A, UPIII, UPIIIA, UPK3
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611559 12580 ENSG00000100373
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital anomalies of kidney and urinary tract Congenital anomalies of kidney and urinary tract 1 N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Renal Agenesis renal agenesis, unilateral N/A N/A GenCC
Renal dysplasia renal dysplasia N/A N/A GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease 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