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Aliases for PKD1L2 Gene

Aliases for PKD1L2 Gene

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

Genomic Location for PKD1L2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn96, Asn110, Asn268, Asn307, Asn441, Asn536, Asn1176, and Asn1186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKD1L2 Gene

Domains for PKD1L2 Gene

Suggested Antigen Peptide Sequences for PKD1L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z442

UniProtKB/Swiss-Prot:

PK1L2_HUMAN :
  • Q7Z442
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:0005216 ion channel activity --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with PKD1L2: view

Phenotypes for PKD1L2 Gene

GenomeRNAi human phenotypes for PKD1L2:
genes like me logo Genes that share phenotypes with PKD1L2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKD1L2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PKD1L2 Gene

Localization for PKD1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1L2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKD1L2 Gene COMPARTMENTS Subcellular localization image for PKD1L2 gene
Compartment Confidence
extracellular 3
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for PKD1L2 Gene

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

Pathways 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:0006811 ion transport IEA --
GO:0007218 neuropeptide signaling pathway --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with PKD1L2: view

No data available for Pathways by source for PKD1L2 Gene

Transcripts for PKD1L2 Gene

Unigene Clusters for PKD1L2 Gene

Polycystic kidney disease 1-like 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PKD1L2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PKD1L2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for PKD1L2 Gene

Integrated Proteomics: protein expression 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 expressions with PKD1L2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia PKD1L2 35
  • 98.03 (n)
  • 96.26 (a)
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
oppossum
(Monodelphis domestica)
Mammalia PKD1L2 36
  • 1 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD1L2 36
  • 1 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691069 35
  • 78.23 (n)
  • 72.05 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.32680 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd1l2 35
  • 59.8 (n)
  • 56.02 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6839 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
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

Selected 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 MAF
rs729265 -- 81,149,995(+) GCAGA(A/G)ATTTG intron-variant
rs734823 -- 81,159,828(-) ACCCC(A/C/G)TTTCC intron-variant
rs734824 - 81,159,767(-) GAGAA(C/G/T)GGGTC missense, reference, nc-transcript-variant
rs744354 -- 81,150,565(-) gggag(C/G)ctcag intron-variant
rs745207 -- 81,173,803(+) TTTAC(C/G)TCCCA intron-variant

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

Relevant External Links for PKD1L2 Gene

HapMap Linkage Disequilibrium report
PKD1L2

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

Disorders for PKD1L2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for PKD1L2 Gene including...

Search for PKD1L2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for PKD1L2 Gene

Relevant External Links for PKD1L2

Genetic Association Database (GAD)
PKD1L2
Human Genome Epidemiology (HuGE) Navigator
PKD1L2
genes like me logo Genes that share disorders with PKD1L2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Polycystin-1L2 is a novel G-protein-binding protein. (PMID: 15203210) Yuasa T. … Zhou J. (Genomics 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 3 4
  5. 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 48

Products for PKD1L2 Gene

  • antibodies-online proteins for PKD1L2
  • antibodies-online antibodies for PKD1L2
  • antibodies-online kits for PKD1L2

Sources for PKD1L2 Gene

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