• Gene id: 79849

Gene Summary

• Gene Symbol: PDZD3   Gene   UCSC   Ensembl
• Aliases: IKEPP, NHERF4, PDZK2
• Gene name: PDZ domain containing 3
• Alternate names: Na(+)/H(+) exchange regulatory cofactor NHE-RF4, NHERF-4, PDZ domain containing 2, PDZ domain-containing protein 2, PDZ domain-containing protein 3, intestinal and kidney enriched PDZ protein, na/Pi cotransporter C-terminal-associated protein 2, naPi-Cap2, natriu,
• Gene location: 11q23.3 (119185456: 119190217)     Exons: 2     NC_000011.10
• Gene summary(Entrez): 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 phos
• OMIM: 607146

Protein Summary

• Protein general information: Q86UT5  
  • Name: Na(+)/H(+) exchange regulatory cofactor NHE RF4 (NHERF 4) (Intestinal and kidney enriched PDZ protein) (Natrium phosphate cotransporter IIa C terminal associated protein 2) (Na/Pi cotransporter C terminal associated protein 2) (NaPi Cap2) (PDZ domain cont
  • Length: 571  
  • Mass: 61032
  • Tissue specificity: Expressed in kidney and the gastrointestinal tract. Not detected in brain, heart, skeletal muscle or cells of hematopoietic origin. {ECO
• Sequence:

  MVTPSPPGNHSLSLEAPRLHTASDLLGNHSLGLPLITALVGSRDRRGRVFSPVPVPLPTNPTTQHPTRQKLPSTL
  SGHRVCQAHGEPVLGLCPLLPLFCCPPHPPDPWSLERPRFCLLSKEEGKSFGFHLQQELGRAGHVVCRVDPGTSA
  QRQGLQEGDRILAVNNDVVEHEDYAVVVRRIRASSPRVLLTVLARHAHDVARAQLGEDAHLCPTLGPGVRPRLCH
  IVKDEGGFGFSVTHGNQGPFWLVLSTGGAAERAGVPPGARLLEVNGVSVEKFTHNQLTRKLWQSGQQVTLLVAGP
  EVEEQCRQLGLPLAAPLAEGWALPTKPRCLHLEKGPQGFGFLLREEKGLDGRPGQFLWEVDPGLPAKKAGMQAGD
  RLVAVAGESVEGLGHEETVSRIQGQGSCVSLTVVDPEADRFFSMVRLSPLLFLENTEAPASPRGSSSASLVETED
  PSLEDTSVPSVPLGSRQCFLYPGPGGSYGFRLSCVASGPRLFISQVTPGGSAARAGLQVGDVILEVNGYPVGGQN
  DLERLQQLPEAEPPLCLKLAARSLRGLEAWIPPGAAEDWALASDLL

• Structural information:
  • Protein Domains: (115..19-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (223..30-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (329..41-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (-)
  • Interpro: IPR031200  IPR001478  IPR041489  IPR036034  
  • Prosite: PS50106
  • PDB: 2V90
  • PDBsum: 2V90
  • STRING: ENSP00000347742
• Other Databases: GeneCards:  PDZD3  Malacards:  PDZD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043296	apical junction complex	IDA	cellular component
GO:0043296	apical junction complex	IDA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0007168	receptor guanylyl cyclase signaling pathway	IEA	biological process
GO:0030251	guanylate cyclase inhibitor activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031283	negative regulation of guanylate cyclase activity	IEA	biological process
GO:0031283	negative regulation of guanylate cyclase activity	IEA	biological process
GO:0005903	brush border	IDA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0030251	guanylate cyclase inhibitor activity	IDA	molecular function
GO:0045177	apical part of cell	IDA	cellular component
GO:0010754	negative regulation of cGMP-mediated signaling	IDA	biological process
GO:0007168	receptor guanylyl cyclase signaling pathway	IC	biological process
GO:0008200	ion channel inhibitor activity	TAS	molecular function
GO:0006833	water transport	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:0009636	response to toxic substance	TAS	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006811	ion transport	NAS	biological process
GO:0005829	cytosol	TAS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)