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Aliases for PKD1L2 Gene

Aliases for PKD1L2 Gene

  • Polycystin 1 Like 2 (Gene/Pseudogene) 2 3 5
  • Polycystic Kidney Disease 1-Like 2 2 3
  • PC1-Like 2 Protein 3 4
  • Polycystin-1L2 3 4
  • PC1L2 3 4
  • Polycystic Kidney Disease Protein 1-Like 2 3
  • 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, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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. GO annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is PKD1L1.

UniProtKB/Swiss-Prot for PKD1L2 Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1L2 Gene

Genomics for PKD1L2 Gene

Regulatory Elements for PKD1L2 Gene

Enhancers for PKD1L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G081190 0.7 ENCODE 19.6 +29.7 29680 0.7 PKNOX1 RNF2 TAL1 DPF2 FOSL1 TCF12 ARID1B CTBP1 ZNF589 JUND PKD1L2 RNU6-1191P
GH16G081094 1.1 ENCODE 10.3 +124.1 124064 2.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A YBX1 ZNF766 ATMIN ENSG00000260495 PKD1L2 GCSH ENSG00000260643
GH16G081180 1.3 Ensembl ENCODE 8.7 +39.0 38997 1.7 ARID4B SIN3A ZNF2 SLC30A9 ZNF766 FOS ZNF263 SP3 SP5 ZHX2 PKD1L2 RNU6-1191P
GH16G081272 0.9 ENCODE 11.4 -56.1 -56106 7.0 PKNOX1 SIN3A RAD21 ZBTB40 ZNF121 ZNF207 RCOR1 FOS HCFC1 ZHX2 GAN PKD1L2 RNU6-1191P ENSG00000280182 GC16M081310
GH16G081517 2 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -305.3 -305257 17.3 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS PAF1 CMIP PKD1L2 PLCG2 ENSG00000279476 MIR7854
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PKD1L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKD1L2 Gene

Chromosome:
16
Start:
81,100,875 bp from pter
End:
81,220,370 bp from pter
Size:
119,496 bases
Orientation:
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:
    Q7Z442-PK1L2_HUMAN
    Recommended name:
    Polycystic kidney disease protein 1-like 2
    Protein Accession:
    Q7Z442
    Secondary Accessions:
    • Q6UEE1
    • Q6ZN46
    • Q6ZSP2
    • Q8N1H9
    • Q96CL2
    • Q96Q08

    Protein attributes for PKD1L2 Gene

    Size:
    2459 amino acids
    Molecular mass:
    272575 Da
    Quaternary structure:
    • May interact via its C-terminus with GNAS and GNAI1.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD1L2 Gene

Post-translational modifications for PKD1L2 Gene

  • Glycosylation at posLast=9696, posLast=110110, Asn268, Asn307, posLast=441441, posLast=536536, posLast=11761176, and posLast=11861186
  • 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

Graphical View of Domain Structure for InterPro Entry

Q7Z442

UniProtKB/Swiss-Prot:

PK1L2_HUMAN :
  • Belongs to the polycystin family.
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.

Gene Ontology (GO) - Molecular Function for PKD1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
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:

Animal Model Products

Inhibitory RNA 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 --
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 for PKD1L2 Gene

Pathways & Interactions for PKD1L2 Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0050982 detection of mechanical stimulus IBA --
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

Unigene Clusters for PKD1L2 Gene

Polycystic kidney disease 1-like 2:
Representative Sequences:

Inhibitory RNA 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: - -
SP3:
SP4: -
SP5:
SP6: -
SP7: -
SP8:
SP9:

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: - - - - -
SP2:
SP3: - - - -
SP4:
SP5: - - - - -
SP6:
SP7:
SP8:
SP9: - - - - - -

Relevant External Links for PKD1L2 Gene

GeneLoc Exon Structure for
PKD1L2
ECgene alternative splicing isoforms for
PKD1L2

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:

PKD1L2

SOURCE GeneReport for Unigene cluster for PKD1L2 Gene:

Hs.413525

mRNA Expression by UniProt/SwissProt for PKD1L2 Gene:

Q7Z442-PK1L2_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PKD1L2 34
  • 98.03 (n)
dog
(Canis familiaris)
Mammalia PKD1L2 34 35
  • 83.76 (n)
cow
(Bos Taurus)
Mammalia PKD1L2 34 35
  • 83.44 (n)
mouse
(Mus musculus)
Mammalia Pkd1l2 34 16
  • 80.01 (n)
Pkd1l3 35
  • 1 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691069 34
  • 78.23 (n)
oppossum
(Monodelphis domestica)
Mammalia PKD1L2 35
  • 1 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD1L2 35
  • 1 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858437 34
  • 63.64 (n)
PKD1L2 35
  • 4 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD1L2 35
  • 1 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd1l2 34
  • 59.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32680 34
zebrafish
(Danio rerio)
Actinopterygii im:7138475 34
  • 56.14 (n)
PKD1L2 (1 of 2) 35
  • 2 (a)
OneToMany
PKD1L2 (2 of 2) 35
  • 1 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6839 34
worm
(Caenorhabditis elegans)
Secernentea lov-1 35
  • 1 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PKD1L2 (if available)
TreeFam:
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:

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 Sequence Context AA Info Type
rs796052190 Likely benign 81,202,554(-) CTCTG(A/C)CAGGC nc-transcript-variant, reference, stop-gained
rs1000012069 -- 81,135,260(+) TAAAA(C/T)GTTTT intron-variant
rs1000012593 -- 81,185,087(+) CCAGG(C/T)CCTGC intron-variant
rs1000030369 -- 81,149,242(+) ATTTT(C/G)CATTT intron-variant
rs1000052278 -- 81,167,837(+) GATGG(-/C)GGGGG 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)

Relevant External Links for PKD1L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD1L2

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: GeneCards

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

Relevant External Links for PKD1L2

Genetic Association Database (GAD)
PKD1L2
Human Genome Epidemiology (HuGE) Navigator
PKD1L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKD1L2
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 64
  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. (Eur. J. Hum. Genet. 2010) 3 46 64
  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 R.J. … Gill M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Polycystin-1L2 is a novel G-protein-binding protein. (PMID: 15203210) Yuasa T. … Zhou J. (Genomics 2004) 3 4 64

Products for PKD1L2 Gene

Sources for PKD1L2 Gene

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