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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PKD2L2 Gene

protein-coding GIFtS: 49
GCID: GC05P137225

polycystic kidney disease 2-like 2

Explore 4 diseases affiliated with
PKD2L2 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
Polycystic Kidney Disease 2-Like 2¹ ²		Polycystin-L2³
TRPP5¹ ²		Polycystin-2L2³
Polycystic Kidney Disease 2-Like 2 Protein²		Polycystin-L2³
Polycystin-2L2³

External Ids:	HGNC: 9012¹	Entrez Gene: 27039²	Ensembl: ENSG00000078795⁷	OMIM: 604669⁵	UniProtKB: Q9NZM6³

Export aliases for PKD2L2 gene to outside databases

Previous GC identifers: GC05P137100 GC05P137898 GC05P137256 GC05P137301 GC05P137253 GC05P132416

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

UniProtKB/Swiss-Prot: PK2L2_HUMAN, Q9NZM6

Function: May function as a subunit of a cation channel and play a role in fertilization

Gene Wiki entry for PKD2L2 (TRPP3)

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PKD2L2 gene promoter:
Max1 MEF-2 CUTL1 MEF-2A POU2F1 Zic1 POU2F1a aMEF-2 RSRFC4 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PKD2L2 promoter sequence

Search SABiosciences Chromatin IP Primers for PKD2L2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD2L2

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

Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q31.2 HGNC cytogenetic band: 5q31

PKD2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD2L2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P137225: view genomic region (about GC identifiers)

Start:	137,223,657 bp from pter	End:	137,278,436 bp from pter
Size:	54,780 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: PK2L2_HUMAN, Q9NZM6 (See protein sequence)

Recommended Name: Polycystic kidney disease 2-like 2 protein

Size: 624 amino acids; 73790 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAD46478.1; Type=Frameshift; Positions=595;

Secondary accessions: A6NK98 B4DXD2 E9PC91 E9PDG4 Q86YB4 Q9UNJ0

Alternative splicing: 7 isoforms: Q9NZM6-1 Q9NZM6-2 Q9NZM6-3 Q9NZM6-4 Q9NZM6-5 Q9NZM6-6 Q9NZM6-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PKD2L2: NX_Q9NZM6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NZM6

PKD2L2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001245377.1 NP_001245378.1 NP_055201.2

ENSEMBL proteins:

ENSP00000424885 ENSP00000423382 ENSP00000388060 ENSP00000425513 ENSP00000424725

ENSP00000290431 ENSP00000423926 ENSP00000344177

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	Uscn Proteins for PKD2L2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	TAS	10602361

PKD2L2 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

PKD2L2 for domains About GeneDecksing

2 InterPro domains/families:

IPR003915 PKD_2

IPR013122 PKD1_2_channel

Graphical View of Domain Structure for InterPro Entry Q9NZM6

ProtoNet protein and cluster: Q9NZM6

UniProtKB/Swiss-Prot: PK2L2_HUMAN, Q9NZM6

Similarity: Belongs to the polycystin 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: PK2L2_HUMAN, Q9NZM6

Function: May function as a subunit of a cation channel and play a role in fertilization

Genatlas biochemistry entry for PKD2L2:

polycystic kidney disease 2(polycystin)-like 2,restrictively expressed in testis

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2L2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005216	ion channel activity	--	--
GO:0005509	calcium ion binding	IEA	--

PKD2L2 for ontologies About GeneDecksing

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Pkd2l2):

behavior/neurological

PKD2L2 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 PKD2L2

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0008150	biological_process	ND	--

PKD2L2 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 PKD2L2
Search CenterWatch for drugs/clinical trials and news about PKD2L2 / PK2L2

(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,
RNAi Products from EMD Millipore,
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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 PKD2L2 gene (3 alternative transcripts):

NM_001258448.1 NM_001258449.1 NM_014386.3

Unigene Cluster for PKD2L2:

Polycystic kidney disease 2-like 2

Hs.716884 [show with all ESTs]

Unigene Representative Sequence: BC044581

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

ENST00000503015 ENST00000508638(uc010jep.1 uc003lbx.3) ENST00000414094

ENST00000502810(uc011cyi.1) ENST00000508883(uc003lby.3) ENST00000290431(uc003lbw.1)

ENST00000511176 ENST00000350250

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Additional cDNA sequence:

AF118125.1 AF182034.1 AK301924.1 BC034619.1 BC038714.1 BC044581.1

8 DOTS entries:

DT.95190872 DT.100689736 DT.92020931 DT.91665933 DT.95208964 DT.86859752 DT.100778867 DT.95211987

18 AceView cDNA sequences:

AF118125 BX281986 NM_014386 BC044581 AF182034 BC034619 CD359324 BG772786

BG721989 BC038714 BI463953 BG719682 AW593268 BI550278 BP369099 BG772072

BF799765 BU852497

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for PKD2L2 About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14
SP1:
SP2:			-		-
SP3:			-
SP4:

ECgene alternative splicing isoforms for PKD2L2

(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

PKD2L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTTATAA

About this image

PKD2L2 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primordial Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PKD2L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKD2L2

SOURCE GeneReport for Unigene cluster: Hs.716884

UniProtKB/Swiss-Prot: PK2L2_HUMAN, Q9NZM6

Tissue specificity: According to PubMed:10602361, expressed only in testis. According to PubMed:10756092, expressed

also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues

tested

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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 animals.

Orthologs for PKD2L2 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pkd2l2^{1 , 5}	polycystic kidney disease 2-like 2^{1, 5}	80.58(n)¹ 81.65(a)¹		18 (18.62 cM)⁵ 53871¹ NM_001163004.1¹ NP_001156476.1¹ 34409423⁵
chicken (Gallus gallus)	Aves	PKD2L2¹	polycystic kidney disease 2-like 2	63.84(n) 58.49(a)		416298 XM_414617.3 XP_414617.3
lizard (Anolis carolinensis)	Reptilia	PKD2L2⁶	--	54(a)	1 ↔ 1	2(142249652-142274542)
fruit fly (Drosophila melanogaster)	Insecta	Pkd2^{1 , 3}	Polycystic kidney disease gene-2¹	38(a)³ 49.56(n)¹ 39.23(a)¹		33E3³ 34651¹ NM_135717.2¹ NP_609561.2¹
worm (Caenorhabditis elegans)	Secernentea	pkd-2⁶	Polycystin-2	28(a)	1 → many	IV(15227851-15237206)

ENSEMBL Gene Tree for PKD2L2 (if available)
TreeFam Gene Tree for PKD2L2 (if available)

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

Paralogs for PKD2L2 gene

PKD2² NPIPP1² PKDREJ² PKD1² PKD2L1² PKD1L1²

4 SIMAP similar genes for PKD2L2 using alignment to 3 protein entries: PK2L2_HUMAN (see all proteins):

PKD2L1 PKD2 FLJ00078 PKD1L2

PKD2L2 for paralogs About GeneDecksing

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7703795^1,2	C,A,H	--	137224052(+)	`TCAGAT/CAATCT`	3	--	us2k¹		5		NS EA NA	416
rs138783418^1,2		--	137224091(+)	`CAGCTC/GAGAGT`	3	--	us2k¹		0	--	--	--	--
rs79216103^1,2		--	137224122(+)	`ATCCTA/TTTGTT`	3	--	us2k¹		0	--	--	--	--
rs147476794^1,2		--	137224128(+)	`TTGTTA/GAAACT`	3	--	us2k¹		0	--	--	--	--
rs78708207^1,2	C,	--	137224203(+)	`TCCTGT/CTCCTC`	3	--	us2k¹		3		NA WA	240
rs80193442^1,2	C	--	137224215(+)	`CATCGA/CTGGTA`	3	--	us2k¹		0	--	--	--	--
rs186306783^1,2		--	137224380(+)	`CCTGGC/GGCCTT`	3	--	us2k¹		0	--	--	--	--
rs7722088^1,2	A,H	--	137224440(+)	`CTGGTC/GTTACA`	3	--	us2k¹		4		NS EA	418
rs188909206^1,2		--	137224597(+)	`ACATAA/TTCACT`	3	--	us2k¹		0	--	--	--	--
rs182174324^1,2		--	137224602(+)	`ATCACC/TGCAGA`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PKD2L2 (137223657 - 137278436 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PKD2L2
1 Indel: 60561

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD2L2

DNA2.0 Custom Variant and Variant Library Synthesis for PKD2L2

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

PKD2L2 for disorders           About GeneDecksing

OMIM gene information: 604669    OMIM disorders: --

4 diseases for PKD2L2:    About MalaCards

polycystic kidney disease 2 polycystic kidney disease kidney disease neuronitis

Export disorders for PKD2L2 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 PKD2L2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with PKD2L2)

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

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PubMed id 10602361)^{1, 2, 3} Veldhuisen B.... Peters D.J.M. (1999)
Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. (PubMed id 10756092)^{1, 2, 9} Guo L.... Zhou J. (2000)
Polycystin channels and kidney disease. (PubMed id 11698076)^{1, 2} Stayner C. and Zhou J. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)
The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PubMed id 11959145)¹ Li Q....Chen X.Z. (2002)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 27039	HGNC: 9012	AceView: PKD2L2	Ensembl:ENSG00000078795	euGenes: HUgn27039
ECgene: PKD2L2	H-InvDB: PKD2L2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PKD2L2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PKD2L2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PKD2L2 gene:
Search GeneIP for patents involving PKD2L2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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	Browse OriGene Antibodies		OriGene shRNA RFP for PKD2L2
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PKD2L2
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2L2

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ThermoFisher Antibodies for PKD2L2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKD2L2

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes PKD2L2 gene at Home site.

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PKD2L2 Gene

polycystic kidney disease 2-like 2

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PKD2L2 Gene

polycystic kidney disease 2-like 2

Aliasesfor PKD2L2 gene

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