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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UPK3A Gene

protein-coding GIFtS: 54
GCID: GC22P045680

uroplakin 3A

(Previous name: uroplakin 3 )
(Previous symbol: UPK3)

Explore 20 diseases affiliated with
UPK3A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Uroplakin 3A¹ ²		UP3A²
UPK3¹ ² ³ ⁵		UPIIIA²
UPIII² ³ ⁵		Uroplakin-3a¹
Uroplakin III² ³		UP3a³
Uroplakin 3¹

External Ids:	HGNC: 12580¹	Entrez Gene: 7380²	Ensembl: ENSG00000100373⁷	OMIM: 611559⁵	UniProtKB: O75631³

Export aliases for UPK3A gene to outside databases

Previous GC identifers: GC22P043957 GC22P044001 GC22P044059 GC22P028626

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UPK3A:

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 variants have been described.(provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631

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. It also contributes to the formation of urothelial glycocalyx which may play an

important role in preventing bacterial adherence (By similarity)

Gene Wiki entry for UPK3A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UPK3A gene promoter:
STAT5B Pax-5 STAT5A MIF-1 Arnt PPAR-alpha POU2F1 POU2F1b POU2F1a POU2F1c
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UPK3A promoter sequence

Search SABiosciences Chromatin IP Primers for UPK3A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPK3A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.31 Ensembl cytogenetic band: 22q13.31 HGNC cytogenetic band: 22q13.31

UPK3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPK3A gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P045680: view genomic region (about GC identifiers)

Start:	45,680,863 bp from pter	End:	45,691,755 bp from pter
Size:	10,893 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631 (See protein sequence)

Recommended Name: Uroplakin-3a precursor

Size: 287 amino acids; 30670 Da

Subunit: Heterodimer with uroplakin-1B (UPK1B) (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity).

Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER) (By similarity)

Secondary accessions: B0QY25 O60261 Q32N05 Q5TII6

Alternative splicing: 2 isoforms: O75631-1 O75631-2

Explore the universe of human proteins at neXtProt for UPK3A: NX_O75631

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75631

UPK3A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001161046.1 NP_008884.1

ENSEMBL proteins:

ENSP00000216211 ENSP00000379391

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--

UPK3A for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UPK3A for domains About GeneDecksing

2 InterPro domains/families:

IPR024825 Uroplakin-3a

IPR024831 Uroplakin-3

Graphical View of Domain Structure for InterPro Entry O75631

ProtoNet protein and cluster: O75631

UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631

Similarity: Belongs to the uroplakin-3 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631

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. It also contributes to the formation of urothelial glycocalyx which may play an

important role in preventing bacterial adherence (By similarity)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UPK3A
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPK3A

1 GenomeRNAi human phenotype for UPK3A:

Decreased Hepatitis C virus re

Animal Models:
Mouse knock-out Upk3a^tm1Tsun for UPK3A
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Upk3a):

homeostasis/metabolism

renal/urinary system

UPK3A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for UPK3A

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for UPK3A (O75631³ ENSP00000216211⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UPK1B	O75841³, ENSP00000264234⁴	I2D: score=2 STRING: ENSP00000264234

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000902	cell morphogenesis	IEA	--
GO:0001822	kidney development	IEA	--
GO:0006833	water transport	IEA	--
GO:0015840	urea transport	IEA	--
GO:0030855	epithelial cell differentiation	IDA	10514386

UPK3A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UPK3A
Search CenterWatch for drugs/clinical trials and news about UPK3A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UPK3A gene (2 alternative transcripts):

NM_001167574.1 NM_006953.3

Unigene Cluster for UPK3A:

Uroplakin 3A

Hs.632787 [show with all ESTs]

Unigene Representative Sequence: AF085808

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216211(uc003bfy.3 uc010gzy.3) ENST00000396082

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Additional cDNA sequence:

AB010116.1 AB010637.1 AF085808.1 BC069544.1 BC108900.2 CR456608.1

2 DOTS entries:

DT.65288373 DT.99950089

20 AceView cDNA sequences:

AB010637 AB010116 BV184428 CR456608 BC069544 NM_006953 AF085808 BM681088

BM727658 BU597796 BX116212 BF447256 BF477659 AW138632 AA658105 AW204813

AW204609 AA513520 AI928252 BU930300

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for UPK3A About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b
SP1:
SP2:					-		-

ECgene alternative splicing isoforms for UPK3A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UPK3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAGTTCTG

About this image

UPK3A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Ureteric Bud

Ureteric Bud Cells

Kidney

Kidney

Metanephros

Kidney

Renal Collecting Duct System

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See UPK3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UPK3A

SOURCE GeneReport for Unigene cluster: Hs.632787

UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631

Tissue specificity: Expressed in ureter

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for UPK3A gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Upk3a^{1 , 5}	uroplakin 3A^{1, 5}	84.04(n)¹ 84.15(a)¹		15 (40.25 cM)⁵ 22270¹ NM_023478.2¹ NP_075967.2¹ 85017141⁵
chicken (Gallus gallus)	Aves	UPK3A⁶	Uncharacterized protein	52(a)	1 ↔ 1	1(72476718-72522423)
lizard (Anolis carolinensis)	Reptilia	UPK3A⁶	--	52(a)	1 ↔ 1	5(84385793-84395725)

ENSEMBL Gene Tree for UPK3A (if available)
TreeFam Gene Tree for UPK3A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918186^1,2	C,F,	pathogenic	45691554(+)	`GGGGCC/TGCCAC`	4	P L	mis¹		2		NA EU	5727
rs62231132^1,2	C,F,	--	45678892(+)	`TCACTA/GTGTTG`	2	--	us2k¹		6		NA WA CSA	11
rs141595257^1,2	C,	--	45678933(+)	`GATCT-/GCCCACC`	2	--	us2k¹		0	--	--	--	--
rs62231133^1,2	C,F,	--	45678999(+)	`AAAGAC/TTTTTA`	2	--	us2k¹		7		NA WA CSA EA	250
rs75205715^1,2	C,F,	--	45679013(+)	`ATCAAG/AGGCCG`	2	--	us2k¹		2		NA EA	240
rs192939488^1,2		--	45679017(+)	`AGGGCC/TGGGCG`	2	--	us2k¹		0	--	--	--	--
rs111782555^1,2		--	45679021(+)	`CCGGGC/TGCGGT`	2	--	us2k¹		1		CSA	2
rs141305858^1,2		--	45679174(+)	`TGCCTA/GTAGTC`	2	--	us2k¹		0	--	--	--	--
rs12172057^1,2	C,F,H,	--	45679214(+)	`ATGGCG/ATGAAC`	2	--	us2k¹		8		NS EA NA WA	428
rs12172544^1,2	C,	--	45679245(+)	`TGAGCG/CGAGAT`	2	--	us2k¹		4		NA WA	8

HapMap Linkage Disequilibrium report for UPK3A (45680863 - 45691755 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for UPK3A
4 CNVs: 8906 31097 4132 3244
Human Gene Mutation Database (HGMD): UPK3A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UPK3A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UPK3A for disorders           About GeneDecksing

OMIM gene information: 611559
OMIM disorders: 191830
UniProtKB/Swiss-Prot: UPK3A_HUMAN, O75631

Defects in UPK3A are a cause of renal adysplasia (RADYS) [MIM:191830]; also known as renal agenesis or renal

aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral

renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia,

unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy

20 diseases for UPK3A: About MalaCards

spinal cord injury vesicoureteral reflux ovarian brenner tumor malignant ovarian brenner tumor

ovarian mucinous adenocarcinoma urinary bladder cancer renal agenesis transitional cell carcinoma

hydronephrosis mucinous adenocarcinoma malignant mesothelioma bladder carcinoma

squamous cell carcinoma cystitis adenocarcinoma carcinoma

prostate adenocarcinoma peritonitis prostatitis interstitial cystitis

6 diseases from the University of Copenhagen DISEASES database for UPK3A:

Vesicoureteral reflux Ovarian Brenner tumor Malignant ovarian Brenner tumor Urinary bladder cancer

Nephrogenic adenoma Carcinoma

9 Novoseek disease relationships for UPK3A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
brenner tumor	85.2	3	10800401 (1), 11253121 (1), 19769199 (1)
carcinoma transitional cell	70.7	3	12502922 (1), 12474225 (1), 7511294 (1)
vesicoureteral reflux	59.2	3	14713856 (1), 15523493 (1)
bladder carcinoma	56.5	1	18949075 (1)
bladder cancer	49.6	1	18313120 (1)
carcinoma	46.5	11	10800401 (4), 16686732 (3), 14654529 (1), 14654522 (1) (see all 5)
metastasis	40.9	4	10800401 (1), 12474225 (1), 7511294 (1), 16686732 (1)
tumors	25.4	5	15626916 (1), 12502922 (1), 10800401 (1), 14576476 (1) (see all 5)
adenocarcinoma	18.9	1	16086826 (1)

Human Genome Epidemiology (HuGE) Navigator: UPK3A (2 documents)

Export disorders for UPK3A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for UPK3A gene, integrated from 9 sources (see all 54):
(articles sorted by number of sources associating them with UPK3A)

Utopia: connect your pdf to the dynamic
world of online information

Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma. (PubMed id 9818021)^{1, 2, 3} Yuasa T.... Okada Y. (1998)
Uroplakin gene expression by normal and neoplastic human urothelium. (PubMed id 9846985)^{1, 2, 9} Lobban E.D.... Southgate J. (1998)
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. (PubMed id 16731295)^{1, 2} Schoenfelder E.-M.... Weber S. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
Up-regulation of urinary UPIII mRNA levels in vesicoureteral reflux patients: potential application as a screening test for vesicoureteral reflux. (PubMed id 17880289)^{1, 9} Iwaki H....Yoshiki T. (2007)
Uroplakin III-delta4 messenger RNA as a promising marker to identify nonulcerative interstitial cystitis. (PubMed id 17698128)^{1, 9} Zeng Y....Kakehi Y. (2007)
No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. (PubMed id 14713856)^{1, 9} Giltay J.C....de Jong T.P. (2004)
Uroplakin gene expression in normal human tissues and locally advanced bladder cancer. (PubMed id 12474225)^{1, 9} Olsburgh J....Southgate J. (2003)
Loss expression of uroplakin III is associated with clinicopathologic features of aggressive bladder cancer. (PubMed id 18313120)^{1, 9} Matsumoto K....Baba S. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7380	HGNC: 12580	AceView: UPK3A	Ensembl:ENSG00000100373	euGenes: HUgn7380
ECgene: UPK3A	H-InvDB: UPK3A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UPK3A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UPK3A gene
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Patent Information for UPK3A gene:
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