This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference... See more...

Aliases for PKD1L2 Gene

Aliases for PKD1L2 Gene

  • Polycystin 1 Like 2 (Gene/Pseudogene) 2 3 5
  • Polycystic Kidney Disease Protein 1-Like 2 3 4
  • Polycystic Kidney Disease 1-Like 2 2 3
  • PC1-Like 2 Protein 3 4
  • Polycystin-1L2 3 4
  • PC1L2 3 4
  • KIAA1879 4

External Ids for PKD1L2 Gene

Previous GeneCards Identifiers for PKD1L2 Gene

  • GC16M080885
  • GC16M080914
  • GC16M079691
  • GC16M081135
  • GC16M066891

Summaries for PKD1L2 Gene

Entrez Gene Summary for PKD1L2 Gene

  • This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2019]

GeneCards Summary for PKD1L2 Gene

PKD1L2 (Polycystin 1 Like 2 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with PKD1L2 include Polycystic Kidney Disease and Kidney Disease. Among its related pathways are MAPK-Erk Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is PKD1.

UniProtKB/Swiss-Prot Summary for PKD1L2 Gene

  • May function as an ion-channel regulator. May function as a G-protein-coupled receptor.

Additional gene information for PKD1L2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKD1L2 Gene

Genomics for PKD1L2 Gene

GeneHancer (GH) Regulatory Elements for PKD1L2 Gene

Promoters and enhancers for PKD1L2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J081220 Enhancer 0.7 Ensembl 750.6 0.0 -31 0.4 SMARCE1 CC2D1A TEAD4 CBFA2T2 SMARCA4 TRIM24 IKZF1 DPF2 HDAC1 LEF1 PKD1L2 BCO1 L13304-015 L13715-012
GH16J081094 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +124.3 124330 3.3 SP1 RBPJ POLR2A CREB1 MIXL1 NFYC ELF1 RBM39 L3MBTL2 MAX GCSH ENSG00000260643 ENSG00000284512 ATMIN PKD1L2 lnc-C16orf46-1 L13304-015 L13715-012
GH16J081190 Enhancer 0.8 Ensembl ENCODE 19.6 +29.7 29669 1 CBFA2T2 SMARCA4 FOSL2 CTBP1 PKNOX1 JUND E2F5 DPF2 FOSL1 TCF12 PKD1L2 RNU6-1191P FJ601666-031 L13304-015 L13715-012
GH16J081180 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 8.8 +39.0 38996 1.7 SMARCE1 POLR2A USF2 NR2F6 CREB1 HLF L3MBTL2 MNT TEAD4 SP1 PKD1L2 FJ601666-031 ENSG00000286759 L13304-015 L13715-012
GH16J081272 Enhancer 1 Ensembl ENCODE 11.4 -55.7 -55708 7.8 PPP1R10 ZNF217 L3MBTL2 ZNF121 MNT NCOA3 MYC CREB1 TARDBP CTBP1 GAN PKD1L2 RNU6-1191P ENSG00000280182 lnc-GCSH-4 BCO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKD1L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKD1L2 gene promoter:
  • c-Myc
  • GATA-6
  • HTF
  • LCR-F1
  • Lhx3a
  • LHX3b
  • Max1
  • MyoD
  • S8
  • Sox9

Genomic Locations for PKD1L2 Gene

Genomic Locations for PKD1L2 Gene
119,496 bases
Minus strand
119,496 bases
Minus strand

Genomic View for PKD1L2 Gene

Genes around PKD1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1L2 Gene

Proteins for PKD1L2 Gene

  • Protein details for PKD1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Polycystic kidney disease protein 1-like 2
    Protein Accession:
    Secondary Accessions:
    • Q6UEE1
    • Q6ZN46
    • Q6ZSP2
    • Q8N1H9
    • Q96CL2
    • Q96Q08

    Protein attributes for PKD1L2 Gene

    2459 amino acids
    Molecular mass:
    272514 Da
    Quaternary structure:
    • May interact via its C-terminus with GNAS and GNAI1.
    • Sequence=AAQ73173.1; Type=Frameshift; Positions=2113, 2117; Evidence={ECO:0000305}; Sequence=BAB67772.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAC05222.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18529.1; Type=Erroneous translation; Note=Wrong CDS prediction.; Evidence={ECO:0000305};

    Alternative splice isoforms for PKD1L2 Gene


neXtProt entry for PKD1L2 Gene

Post-translational modifications for PKD1L2 Gene

  • Glycosylation at Asn96, Asn110, Asn268, Asn307, Asn441, Asn1176, Asn1186, and Asn536
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKD1L2 Gene

Domains & Families for PKD1L2 Gene

Gene Families for PKD1L2 Gene

Suggested Antigen Peptide Sequences for PKD1L2 Gene

GenScript: Design optimal peptide antigens:
  • Polycystic kidney disease 1-like 2, isoform CRA_a (D3DUL1_HUMAN)
  • Polycystin-1L2 (PK1L2_HUMAN)
  • PKD1L2 protein (Q96CM9_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the polycystin family.
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD1L2: view

Function for PKD1L2 Gene

Molecular function for PKD1L2 Gene

UniProtKB/Swiss-Prot Function:
May function as an ion-channel regulator. May function as a G-protein-coupled receptor.

Phenotypes From GWAS Catalog for PKD1L2 Gene

Gene Ontology (GO) - Molecular Function for PKD1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with PKD1L2: view
genes like me logo Genes that share phenotypes with PKD1L2: view

Animal Models for PKD1L2 Gene

MGI Knock Outs for PKD1L2:
  • Pkd1l2 Pkd1l2<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PKD1L2 Gene

Localization for PKD1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1L2 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for PKD1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PKD1L2: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PKD1L2 Gene

Pathways & Interactions for PKD1L2 Gene

PathCards logo

SuperPathways for PKD1L2 Gene

SuperPathway Contained pathways
1 MAPK-Erk Pathway
genes like me logo Genes that share pathways with PKD1L2: view

Pathways by source for PKD1L2 Gene

1 Sino Biological pathway for PKD1L2 Gene

Interacting Proteins for PKD1L2 Gene

Gene Ontology (GO) - Biological Process for PKD1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0050982 detection of mechanical stimulus IBA 21873635
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with PKD1L2: view

No data available for SIGNOR curated interactions for PKD1L2 Gene

Drugs & Compounds for PKD1L2 Gene

No Compound Related Data Available

Transcripts for PKD1L2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1L2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - -
SP2: - -
SP4: -
SP6: -
SP7: -

ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
SP1: - - - - -
SP3: - - - -
SP5: - - - - -
SP9: - - - - - -

Relevant External Links for PKD1L2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKD1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKD1L2 Gene

Protein differential expression in normal tissues from HIPED for PKD1L2 Gene

This gene is overexpressed in Liver (33.8) and Serum (30.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKD1L2 Gene

Protein tissue co-expression partners for PKD1L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PKD1L2 Gene:


SOURCE GeneReport for Unigene cluster for PKD1L2 Gene:


mRNA Expression by UniProt/SwissProt for PKD1L2 Gene:

Tissue specificity: Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney.

Evidence on tissue expression from TISSUES for PKD1L2 Gene

  • Kidney(4)
  • Skin(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with PKD1L2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD1L2 Gene

Orthologs for PKD1L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD1L2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PKD1L2 32
  • 98.03 (n)
(Canis familiaris)
Mammalia PKD1L2 33 32
  • 83.76 (n)
(Bos Taurus)
Mammalia PKD1L2 33 32
  • 83.44 (n)
(Mus musculus)
Mammalia Pkd1l2 17 32
  • 80.01 (n)
Pkd1l3 33
  • 1 (a)
(Rattus norvegicus)
Mammalia LOC691069 32
  • 78.23 (n)
(Ornithorhynchus anatinus)
Mammalia PKD1L2 33
  • 1 (a)
(Monodelphis domestica)
Mammalia PKD1L2 33
  • 1 (a)
(Gallus gallus)
Aves LOC100858437 32
  • 63.64 (n)
PKD1L2 33
  • 4 (a)
(Anolis carolinensis)
Reptilia PKD1L2 33
  • 1 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd1l2 32
  • 59.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32680 32
(Danio rerio)
Actinopterygii im:7138475 32
  • 56.14 (n)
PKD1L2 (1 of 2) 33
  • 2 (a)
PKD1L2 (2 of 2) 33
  • 1 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6839 32
(Caenorhabditis elegans)
Secernentea lov-1 33
  • 1 (a)
Species where no ortholog for PKD1L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PKD1L2 Gene

Gene Tree for PKD1L2 (if available)
Gene Tree for PKD1L2 (if available)

Paralogs for PKD1L2 Gene

Paralogs for PKD1L2 Gene

(3) SIMAP similar genes for PKD1L2 Gene using alignment to 5 proteins:

  • Q96CM9_HUMAN
genes like me logo Genes that share paralogs with PKD1L2: view

Variants for PKD1L2 Gene

Sequence variations from dbSNP and Humsavar for PKD1L2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs796052190 likely-benign, Long QT syndrome 81,202,554(-) G/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs1000012069 -- 81,135,260(-) T/A/C genic_downstream_transcript_variant, intron_variant
rs1000012593 -- 81,185,087(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000030369 -- 81,149,242(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000052278 -- 81,167,838(-) /A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PKD1L2 Gene

Variant ID Type Subtype PubMed ID
dgv165e215 CNV deletion 23714750
dgv3047n100 CNV loss 25217958
dgv3048n100 CNV gain 25217958
dgv3049n100 CNV gain 25217958
dgv510e199 CNV deletion 23128226
dgv5248n54 CNV loss 21841781
dgv5249n54 CNV loss 21841781
esv1203723 CNV insertion 17803354
esv1317764 CNV deletion 17803354
esv21660 CNV gain 19812545
esv2422360 CNV duplication 17116639
esv24979 CNV loss 19812545
esv2662178 CNV deletion 23128226
esv2664656 CNV deletion 23128226
esv2668114 CNV deletion 23128226
esv2672172 CNV deletion 23128226
esv2672468 CNV deletion 23128226
esv2673384 CNV deletion 23128226
esv2676623 CNV deletion 23128226
esv2714775 CNV deletion 23290073
esv2714776 CNV deletion 23290073
esv2714777 CNV deletion 23290073
esv2751615 CNV gain 17911159
esv2761923 CNV loss 21179565
esv2761924 CNV loss 21179565
esv2762355 CNV loss 21179565
esv3186013 CNV deletion 24192839
esv3410714 CNV insertion 20981092
esv3553750 CNV deletion 23714750
esv3582385 CNV loss 25503493
esv3582386 CNV loss 25503493
esv3639310 CNV loss 21293372
esv3639311 CNV loss 21293372
esv3639312 CNV loss 21293372
esv3639313 CNV loss 21293372
esv3639314 CNV loss 21293372
esv3639315 CNV loss 21293372
esv3639316 CNV loss 21293372
esv3639317 CNV loss 21293372
esv3639318 CNV loss 21293372
esv3639320 CNV loss 21293372
esv3639321 CNV loss 21293372
esv3639322 CNV loss 21293372
esv3639323 CNV loss 21293372
esv3639325 CNV loss 21293372
esv3892911 CNV loss 25118596
esv3892912 CNV gain 25118596
esv999287 CNV gain 20482838
nsv1056843 CNV loss 25217958
nsv1058690 CNV loss 25217958
nsv1059006 CNV loss 25217958
nsv1061931 CNV gain 25217958
nsv1062724 CNV gain 25217958
nsv1063460 CNV gain 25217958
nsv1064222 CNV loss 25217958
nsv1064529 CNV loss 25217958
nsv1064984 CNV loss 25217958
nsv1066686 CNV loss 25217958
nsv1066901 CNV loss 25217958
nsv1067144 CNV loss 25217958
nsv1116164 CNV deletion 24896259
nsv1123072 CNV deletion 24896259
nsv1134569 CNV deletion 24896259
nsv1138469 CNV deletion 24896259
nsv1138470 CNV deletion 24896259
nsv457571 CNV gain 19166990
nsv457573 CNV gain 19166990
nsv457575 CNV loss 19166990
nsv520035 CNV loss 19592680
nsv521055 CNV loss 19592680
nsv527288 CNV gain 19592680
nsv573347 CNV loss 21841781
nsv573348 CNV gain 21841781
nsv573352 CNV gain 21841781
nsv573353 CNV loss 21841781
nsv573354 CNV gain 21841781
nsv573357 CNV loss 21841781
nsv827774 CNV loss 20364138
nsv827776 CNV loss 20364138
nsv958837 CNV deletion 24416366

Variation tolerance for PKD1L2 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKD1L2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD1L2 Gene

Disorders for PKD1L2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PKD1L2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease
  • pkd
kidney disease
  • nephropathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKD1L2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PKD1L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD1L2 Gene

Publications for PKD1L2 Gene

  1. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. (PMID: 12782129) Li A … Somlo S (Genomics 2003) 2 3 4 56
  2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 43 56
  3. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. Polycystin-1L2 is a novel G-protein-binding protein. (PMID: 15203210) Yuasa T … Zhou J (Genomics 2004) 3 4 56

Products for PKD1L2 Gene

Sources for PKD1L2 Gene