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Aliases for PKD1L2 Gene

Aliases for PKD1L2 Gene

  • Polycystin 1 Like 2 (Gene/Pseudogene) 2 3
  • Polycystic Kidney Disease 1-Like 2 2 3
  • PC1-Like 2 Protein 3 4
  • Polycystin-1L2 3 4
  • PC1L2 3 4
  • Polycystic Kidney Disease 1-Like 2 (Gene/Pseudogene) 5
  • 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. GO annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is ENSG00000279362.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for PKD1L2 Gene at MOPED

Post-translational modifications for PKD1L2 Gene

  • Glycosylation at Asn 96, Asn 110, Asn 268, Asn 307, Asn 441, Asn 536, Asn 1176, and Asn 1186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKD1L2 Gene

Domains & 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 :
  • Contains 1 C-type lectin domain.
  • Belongs to the polycystin family.
Domain:
  • Contains 1 C-type lectin domain.
  • Contains 1 GPS domain.
  • Contains 1 PLAT domain.
  • Contains 1 REJ domain.
  • Contains 1 SUEL-type lectin domain.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD1L2: view

No data available for Gene Families for PKD1L2 Gene

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:0005515 protein 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:

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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for PKD1L2 Gene

Pathways & Interactions for PKD1L2 Gene

SuperPathways for PKD1L2 Gene

No Data Available

Interacting Proteins for PKD1L2 Gene

Selected Interacting proteins: Q7Z442-PK1L2_HUMAN for PKD1L2 Gene via I2D

Symbol External ID(s) Details
SHC1

Gene Ontology (GO) - Biological Process for PKD1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050982 detection of mechanical stimulus IBA --
genes like me logo Genes that share ontologies with PKD1L2: view

No data available for Pathways by source and 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:

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 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



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.
genes like me logo Genes that share expression patterns with PKD1L2: view

Protein tissue co-expression partners for PKD1L2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PKD1L2 35
  • 83.44 (n)
  • 77.15 (a)
PKD1L2 36
  • 1 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKD1L2 35
  • 83.76 (n)
  • 78.46 (a)
PKD1L2 36
  • 2 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkd1l2 35
  • 80.01 (n)
  • 74.36 (a)
Pkd1l2 16
Pkd1l3 36
  • 1 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PKD1L2 35
  • 98.03 (n)
  • 96.26 (a)
rat
(Rattus norvegicus)
Mammalia LOC691069 35
  • 78.23 (n)
  • 72.05 (a)
oppossum
(Monodelphis domestica)
Mammalia PKD1L2 36
  • 1 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD1L2 36
  • 1 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858437 35
  • 63.64 (n)
  • 58.3 (a)
PKD1L2 36
  • 4 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD1L2 36
  • 1 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd1l2 35
  • 59.8 (n)
  • 56.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32680 35
zebrafish
(Danio rerio)
Actinopterygii im:7138475 35
  • 56.14 (n)
  • 49.83 (a)
PKD1L2 (1 of 2) 36
  • 2 (a)
OneToMany
PKD1L2 (2 of 2) 36
  • 1 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6839 35
worm
(Caenorhabditis elegans)
Secernentea lov-1 36
  • 1 (a)
OneToOne
Species with no ortholog for PKD1L2:
  • 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:

Pseudogenes.org Pseudogenes for PKD1L2 Gene

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
rs9924530 - 81,220,312(+) GCTTA(A/G)CAGTG nc-transcript-variant, reference, missense
rs9924371 - 81,220,154(+) AAACC(A/G)CTGGG nc-transcript-variant, reference, missense
rs9934272 - 81,220,140(+) ATGTG(C/G/T)TTCTG nc-transcript-variant, reference, missense
rs7191351 - 81,216,349(+) CGGCC(A/T)GCCCT nc-transcript-variant, reference, missense
rs7185774 - 81,216,322(+) TGTGG(C/T)CGCAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2422360 CNV Duplication 17116639
esv2751615 CNV Gain 17911159
nsv907005 CNV Loss 21882294
esv1203723 CNV Insertion 17803354
nsv520035 CNV Loss 19592680
esv2664656 CNV Deletion 23128226
esv2668114 CNV Deletion 23128226
nsv907006 CNV Loss 21882294
dgv510e199 CNV Deletion 23128226
nsv907007 CNV Loss 21882294
nsv827774 CNV Loss 20364138
esv2672172 CNV Deletion 23128226
esv2714775 CNV Deletion 23290073
esv2714776 CNV Deletion 23290073
esv1317764 CNV Deletion 17803354
esv2673384 CNV Deletion 23128226
esv2714777 CNV Deletion 23290073
esv2662178 CNV Deletion 23128226
nsv521055 CNV Loss 19592680
nsv907008 CNV Gain 21882294
nsv457571 CNV Gain 19166990
nsv907009 CNV Loss 21882294
esv999287 CNV Gain 20482838
nsv827776 CNV Loss 20364138
nsv457573 CNV Gain 19166990
nsv527288 CNV Gain 19592680
esv2672468 CNV Deletion 23128226
nsv457575 CNV Loss 19166990
esv21660 CNV Gain 19812545
esv2676623 CNV Deletion 23128226
esv24979 CNV Loss 19812545
esv270116 CNV Insertion 20981092

Variation tolerance for PKD1L2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
  • congenital biliary ectasias
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 67
  2. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  3. The TRPP subfamily and polycystin-1 proteins. (PMID: 24756726) Semmo M. … Hofherr A. (Handb Exp Pharmacol 2014) 3
  4. Direct recording and molecular identification of the calcium channel of primary cilia. (PMID: 24336289) DeCaen P.G. … Clapham D.E. (Nature 2013) 3
  5. 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

Products for PKD1L2 Gene

Sources for PKD1L2 Gene

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