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Aliases for PKDREJ Gene

Aliases for PKDREJ Gene

  • Polycystin (PKD) Family Receptor For Egg Jelly 2 3
  • Polycystic Kidney Disease (Polycystin) And REJ Homolog (Sperm Receptor For Egg Jelly Homolog, Sea Urchin) 2
  • Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg Jelly, Sea Urchin Homolog)-Like 2
  • Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg Jelly Homolog, Sea Urchin)-Like 2
  • PKD And REJ Homolog 4

External Ids for PKDREJ Gene

Previous GeneCards Identifiers for PKDREJ Gene

  • GC22M043217
  • GC22M044863
  • GC22M044972
  • GC22M045030
  • GC22M046651
  • GC22M029595

Summaries for PKDREJ Gene

Entrez Gene Summary for PKDREJ Gene

  • This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKDREJ Gene

PKDREJ (Polycystin (PKD) Family Receptor For Egg Jelly) is a Protein Coding gene. Diseases associated with PKDREJ include kidney disease and polycystic 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 PKDREJ Gene

  • May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm

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

Genomics for PKDREJ Gene

Regulatory Elements for PKDREJ Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PKDREJ Gene

Start:
46,255,663 bp from pter
End:
46,263,355 bp from pter
Size:
7,693 bases
Orientation:
Minus strand

Genomic View for PKDREJ Gene

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

RefSeq DNA sequence for PKDREJ Gene

Proteins for PKDREJ Gene

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

    Protein Symbol:
    Q9NTG1-PKDRE_HUMAN
    Recommended name:
    Polycystic kidney disease and receptor for egg jelly-related protein
    Protein Accession:
    Q9NTG1
    Secondary Accessions:
    • B1AJY3
    • O95850

    Protein attributes for PKDREJ Gene

    Size:
    2253 amino acids
    Molecular mass:
    255449 Da
    Quaternary structure:
    • May form homomultimers or heteromultimers in combination with an as yet unidentified subunits

neXtProt entry for PKDREJ Gene

Proteomics data for PKDREJ Gene at MOPED

Post-translational modifications for PKDREJ Gene

  • Glycosylation at Asn197, Asn242, Asn295, Asn306, Asn345, Asn349, Asn481, Asn674, Asn849, Asn890, Asn923, Asn939, Asn958, Asn965, Asn1836, Asn1893, and Asn1944
  • Modification sites at PhosphoSitePlus

Other Protein References for PKDREJ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKDREJ Gene

Domains for PKDREJ Gene

Protein Domains for PKDREJ Gene

Suggested Antigen Peptide Sequences for PKDREJ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NTG1

UniProtKB/Swiss-Prot:

PKDRE_HUMAN :
  • Q9NTG1
Domain:
  • Contains 1 PLAT domain.
  • Contains 1 REJ domain.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKDREJ: view

No data available for Gene Families for PKDREJ Gene

Function for PKDREJ Gene

Molecular function for PKDREJ Gene

GENATLAS Biochemistry: receptor for egg jelly related gene,with extensive homology with PKD1,exclusively expressed in testis
UniProtKB/Swiss-Prot Function: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm

Gene Ontology (GO) - Molecular Function for PKDREJ 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 --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PKDREJ: view

Phenotypes for PKDREJ Gene

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

Animal Models for PKDREJ Gene

MGI Knock Outs for PKDREJ:

Animal Model Products

CRISPR Products

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

Localization for PKDREJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKDREJ Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for PKDREJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 9949214
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PKDREJ: view

Pathways for PKDREJ Gene

SuperPathways for PKDREJ Gene

No Data Available

Interacting Proteins for PKDREJ Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000253255%0d%0a9606.ENSP00000263925%0d%0a9606.ENSP00000325929%0d%0a9606.ENSP00000269571%0d%0a
Selected Interacting proteins: ENSP00000253255 for PKDREJ Gene via STRING

Gene Ontology (GO) - Biological Process for PKDREJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0007218 neuropeptide signaling pathway --
GO:0007340 acrosome reaction TAS 9949214
GO:0050982 detection of mechanical stimulus IBA --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with PKDREJ: view

No data available for Pathways by source for PKDREJ Gene

Transcripts for PKDREJ Gene

mRNA/cDNA for PKDREJ Gene

(7) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PKDREJ Gene

Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PKDREJ

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PKDREJ Gene

GeneLoc Exon Structure for
PKDREJ
ECgene alternative splicing isoforms for
PKDREJ

Expression for PKDREJ Gene

mRNA expression in normal human tissues for PKDREJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (15.2).

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

SOURCE GeneReport for Unigene cluster for PKDREJ Gene Hs.241383

mRNA Expression by UniProt/SwissProt for PKDREJ Gene

Q9NTG1-PKDRE_HUMAN
Tissue specificity: Exclusively expressed in testis
genes like me logo Genes that share expressions with PKDREJ: view

In Situ Assay Products

Orthologs for PKDREJ Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKDREJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKDREJ 35
  • 98.18 (n)
  • 97.42 (a)
PKDREJ 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC101904413 35
  • 73.62 (n)
  • 64.2 (a)
PKDREJ 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKDREJ 35
  • 74.15 (n)
  • 66.34 (a)
PKDREJ 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkdrej 35
  • 71.28 (n)
  • 64.05 (a)
Pkdrej 16
Pkdrej 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PKDREJ 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkdrej 35
  • 70.86 (n)
  • 63.21 (a)
chicken
(Gallus gallus)
Aves PKDREJ 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKDREJ 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pkd1b 36
  • 10 (a)
ManyToMany
Species with no ortholog for PKDREJ:
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PKDREJ Gene

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

Paralogs for PKDREJ Gene

Paralogs for PKDREJ Gene

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

Variants for PKDREJ Gene

Sequence variations from dbSNP and Humsavar for PKDREJ Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs695766 -- 46,263,308(-) GGGCC(-/C)GCTCT frameshift-variant, reference
rs3747247 -- 46,262,225(+) CTGTC(C/T)GCATC synonymous-codon, reference
rs4508712 -- 46,257,062(+) ATGCC(A/G/T)GGGAG synonymous-codon, reference
rs4823496 - 46,258,739(+) GTCTT(C/G)ATTTG reference, missense
rs5766863 -- 46,257,534(+) AAATG(C/T)TACAG missense, reference

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

Variant ID Type Subtype PubMed ID
nsv829281 CNV Gain 20364138
nsv834224 CNV Loss 17160897
dgv5013n71 CNV Loss 21882294
nsv829293 CNV Gain 20364138
nsv915349 CNV Loss 21882294
nsv915350 CNV Loss 21882294
dgv5014n71 CNV Loss 21882294
nsv820143 CNV Loss 19587683
dgv1412e1 CNV Complex 17122850
nsv428393 CNV Gain 18775914

Relevant External Links for PKDREJ Gene

HapMap Linkage Disequilibrium report
PKDREJ
Human Gene Mutation Database (HGMD)
PKDREJ

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

Disorders for PKDREJ Gene

MalaCards: The human disease database

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

Search for PKDREJ Gene in MalaCards »

(1) University of Copenhagen DISEASES for PKDREJ Gene

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

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

Publications for PKDREJ Gene

  1. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. (PMID: 9949214) Hughes J. … Harris P.C. (Hum. Mol. Genet. 1999) 2 3 4
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4
  3. Polycystin channels and kidney disease. (PMID: 11698076) Stayner C. … Zhou J. (Trends Pharmacol. Sci. 2001) 3 4
  4. 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) 3 23
  5. A third sea urchin sperm receptor for egg jelly module protein, suREJ2, concentrates in the plasma membrane over the sperm mitochondrion. (PMID: 15008854) Galindo B.E. … Vacquier V.D. (Dev. Growth Differ. 2004) 23

Products for PKDREJ Gene

  • antibodies-online peptides for PKDREJ
  • antibodies-online antibodies for PKDREJ
  • antibodies-online kits for PKDREJ

Sources for PKDREJ Gene

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