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Aliases for PKDREJ Gene

Aliases for PKDREJ Gene

  • Polycystin (PKD) Family Receptor For Egg Jelly 2 3 5
  • 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 polycystic kidney disease and kidney disease. GO annotations related to this gene include calcium ion binding and calcium channel activity. An important paralog of this gene is ENSG00000279362.

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

Promoters for PKDREJ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PKDREJ on UCSC Golden Path with GeneCards custom track

Genomic Location for PKDREJ Gene

Chromosome:
22
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

Genes around PKDREJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKDREJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 197, Asn 242, Asn 295, Asn 306, Asn 345, Asn 349, Asn 481, Asn 674, Asn 849, Asn 890, Asn 923, Asn 939, Asn 958, Asn 965, Asn 1836, Asn 1893, and Asn 1944
  • 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 & Families 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 :
  • Contains 1 PLAT domain.
  • Belongs to the polycystin family.
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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PKDREJ: view
genes like me logo Genes that share phenotypes with PKDREJ: view

Animal Models for PKDREJ Gene

MGI Knock Outs for PKDREJ:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 4

Gene Ontology (GO) - Cellular Components for PKDREJ Gene

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

Pathways & Interactions 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.ENSP00000325929%0d%0a9606.ENSP00000263925%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:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with PKDREJ: view

No data available for Pathways by source and SIGNOR curated interactions for PKDREJ Gene

Drugs & Compounds for PKDREJ Gene

No Compound Related Data Available

Transcripts for PKDREJ Gene

mRNA/cDNA for PKDREJ Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA 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:

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 (x15.2).

Protein differential expression in normal tissues from HIPED for PKDREJ Gene

This gene is overexpressed in Ovary (26.5), Liver (14.5), Spleen (8.8), Kidney (8.1), and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PKDREJ: view

Protein tissue co-expression partners for PKDREJ Gene

Primer Products

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 36
  • 99 (a)
OneToOne
PKDREJ 35
  • 98.18 (n)
  • 97.42 (a)
cow
(Bos Taurus)
Mammalia LOC101904413 35
  • 73.62 (n)
  • 64.2 (a)
PKDREJ 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKDREJ 36
  • 66 (a)
OneToOne
PKDREJ 35
  • 74.15 (n)
  • 66.34 (a)
mouse
(Mus musculus)
Mammalia Pkdrej 16
Pkdrej 36
  • 64 (a)
OneToOne
Pkdrej 35
  • 71.28 (n)
  • 64.05 (a)
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
rs36125344 - 46,259,882(+) AGTCC(A/C/G)ATTGT reference, missense
VAR_036573 A breast cancer sample
VAR_036574 A breast cancer sample
rs6008394 - 46,261,740(+) AATGC(C/G/T)GAAAA reference, missense
rs6519993 - 46,260,582(+) GAAAG(A/G)GGTCA reference, missense

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

Variation tolerance for PKDREJ Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.95; 91.97% of all genes are more intolerant (likely to be disease-causing)

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

(2) MalaCards diseases for PKDREJ Gene - From: DISEASES and 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 PKDREJ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKDREJ
genes like me logo Genes that share disorders with PKDREJ: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3
  3. 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
  4. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. (PMID: 22889411) Guo Z. … Gao Y. (J. Proteome Res. 2012) 3
  5. Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ. (PMID: 17564962) Hamm D. … Swanson W.J. (Am. J. Hum. Genet. 2007) 3

Products for PKDREJ Gene

Sources for PKDREJ Gene

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