Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PKD2L2 Gene

Aliases for PKD2L2 Gene

  • Polycystic Kidney Disease 2-Like 2 2 3
  • Polycystin-2L2 3 4
  • Polycystin-L2 3 4
  • Polycystic Kidney Disease 2-Like 2 Protein 3
  • TRPP5 3

External Ids for PKD2L2 Gene

Summaries for PKD2L2 Gene

GeneCards Summary for PKD2L2 Gene

PKD2L2 (Polycystic Kidney Disease 2-Like 2) is a Protein Coding gene. Diseases associated with PKD2L2 include polycystic kidney disease 2 and kidney disease. GO annotations related to this gene include calcium ion binding and calcium channel activity. An important paralog of this gene is PKD1L1.

UniProtKB/Swiss-Prot for PKD2L2 Gene

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

Gene Wiki entry for PKD2L2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD2L2 Gene

Genomics for PKD2L2 Gene

Genomic Location for PKD2L2 Gene

Start:
137,887,968 bp from pter
End:
137,942,747 bp from pter
Size:
54,780 bases
Orientation:
Plus strand

Genomic View for PKD2L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKD2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD2L2 Gene

Regulatory Elements for PKD2L2 Gene

Proteins for PKD2L2 Gene

  • Protein details for PKD2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZM6-PK2L2_HUMAN
    Recommended name:
    Polycystic kidney disease 2-like 2 protein
    Protein Accession:
    Q9NZM6
    Secondary Accessions:
    • A6NK98
    • B4DXD2
    • E9PC91
    • E9PDG4
    • Q86YB4
    • Q9UNJ0

    Protein attributes for PKD2L2 Gene

    Size:
    624 amino acids
    Molecular mass:
    73790 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD46478.1; Type=Frameshift; Positions=595; Evidence={ECO:0000305};

    Alternative splice isoforms for PKD2L2 Gene

neXtProt entry for PKD2L2 Gene

Proteomics data for PKD2L2 Gene at MOPED

Post-translational modifications for PKD2L2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn115 and Asn138

No data available for DME Specific Peptides for PKD2L2 Gene

Domains for PKD2L2 Gene

Gene Families for PKD2L2 Gene

HGNC:
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels
IUPHAR :

Protein Domains for PKD2L2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

PK2L2_HUMAN
Family:
  • Belongs to the polycystin family.:
    • Q9NZM6
genes like me logo Genes that share domains with PKD2L2: view

Function for PKD2L2 Gene

Molecular function for PKD2L2 Gene

GENATLAS Biochemistry: polycystic kidney disease 2(polycystin)-like 2,restrictively expressed in testis
UniProtKB/Swiss-Prot Function: May function as a subunit of a cation channel and play a role in fertilization

Gene Ontology (GO) - Molecular Function for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005262 calcium channel activity IBA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PKD2L2: view

Phenotypes for PKD2L2 Gene

MGI mutant phenotypes for PKD2L2:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with PKD2L2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PKD2L2 Gene

Localization for PKD2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD2L2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKD2L2 Gene COMPARTMENTS Subcellular localization image for PKD2L2 gene
Compartment Confidence
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane --
GO:0016021 integral component of membrane TAS 10602361
genes like me logo Genes that share ontologies with PKD2L2: view

Pathways for PKD2L2 Gene

SuperPathways for PKD2L2 Gene

No Data Available

Interacting Proteins for PKD2L2 Gene

Gene Ontology (GO) - Biological Process for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0008150 biological_process ND --
GO:0050982 detection of mechanical stimulus IBA --
GO:0055085 transmembrane transport --
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with PKD2L2: view

No data available for Pathways by source for PKD2L2 Gene

Transcripts for PKD2L2 Gene

Unigene Clusters for PKD2L2 Gene

Polycystic kidney disease 2-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKD2L2 Gene

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

Relevant External Links for PKD2L2 Gene

GeneLoc Exon Structure for
PKD2L2
ECgene alternative splicing isoforms for
PKD2L2

Expression for PKD2L2 Gene

mRNA expression in normal human tissues for PKD2L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD2L2 Gene

This gene is overexpressed in Testis (14.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PKD2L2 Gene

SOURCE GeneReport for Unigene cluster for PKD2L2 Gene Hs.716884

mRNA Expression by UniProt/SwissProt for PKD2L2 Gene

Q9NZM6-PK2L2_HUMAN
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
genes like me logo Genes that share expressions with PKD2L2: view

Orthologs for PKD2L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD2L2 36
  • 99.39 (n)
  • 98.67 (a)
PKD2L2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PKD2L2 36
  • 89.35 (n)
  • 85.76 (a)
PKD2L2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKD2L2 36
  • 90.72 (n)
  • 88.17 (a)
PKD2L2 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkd2l2 36
  • 80.82 (n)
  • 81.94 (a)
Pkd2l2 16
Pkd2l2 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKD2L2 37
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD2L2 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkd2l2 36
  • 80.43 (n)
  • 81.94 (a)
chicken
(Gallus gallus)
Aves PKD2L2 36
  • 61.57 (n)
  • 54.79 (a)
PKD2L2 37
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD2L2 37
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pkd1l3 37
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Pkd2 37
  • 20 (a)
OneToMany
Pkd2 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea pkd-2 37
  • 28 (a)
OneToMany
Species with no ortholog for PKD2L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PKD2L2 Gene

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

Paralogs for PKD2L2 Gene

Paralogs for PKD2L2 Gene

Selected SIMAP similar genes for PKD2L2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PKD2L2: view

Variants for PKD2L2 Gene

Sequence variations from dbSNP and Humsavar for PKD2L2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs696813 -- 137,908,052(+) GCTCA(C/T)ACCTG intron-variant
rs700605 -- 137,906,167(+) AATGC(C/T)TGAAA intron-variant
rs700606 -- 137,906,716(+) ACCCC(C/T)ACTTA intron-variant
rs700607 -- 137,907,104(+) AATTA(C/T)AGCCA intron-variant
rs700608 -- 137,907,481(+) ATTTG(C/T)GCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKD2L2 Gene

Variant ID Type Subtype PubMed ID
nsv830501 CNV Gain 17160897
dgv6339n71 CNV Loss 21882294
nsv882936 CNV Loss 21882294
nsv830502 CNV Gain 17160897

Relevant External Links for PKD2L2 Gene

HapMap Linkage Disequilibrium report
PKD2L2

Disorders for PKD2L2 Gene

genes like me logo Genes that share disorders with PKD2L2: view

No data available for UniProtKB/Swiss-Prot for PKD2L2 Gene

Publications for PKD2L2 Gene

  1. Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. (PMID: 10756092) Guo L. … Zhou J. (Genomics 2000) 3 4 23
  2. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PMID: 10602361) Veldhuisen B. … Peters D.J.M. (Eur. J. Hum. Genet. 1999) 2 3 4
  3. Polycystin channels and kidney disease. (PMID: 11698076) Stayner C. … Zhou J. (Trends Pharmacol. Sci. 2001) 3 4
  4. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PMID: 11959145) Li Q. … Chen X.Z. (FEBS Lett. 2002) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for PKD2L2 Gene

Sources for PKD2L2 Gene

Back to Top

Content