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Gene : PDZD3 Homo sapiens

Name  ? PDZ domain containing 3 Cytological Location  11q23.3
Brief Description  PDZ domain containing 3
Description  Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
  • synonyms:
  • IKEPP,
  • PDZ domain containing 2,
  • OTTHUMG00000166224,
  • PDZK2,
  • AK091966,
  • FLJ22756,
  • uc001pvz.4,
  • NM_024791,
  • HGNC:19891,
  • PDZK2,
  • IKEPP,
  • NHERF4,
  • PDZD3
  • identifiers:
  • 79849,
  • ENSG00000172367,
  • PDZD3

Genome feature

Region: gene ? Length: 4762  
Location: 11:119185457-119190218 Cyto location: 11q23.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



893 SN Ps

5 Cross References

15 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results