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Polycystin 2

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Protein and coding gene in humans
PKD2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2KLD, 2KLE, 2KQ6, 2Y4Q, 3HRN, 3HRO

Identifiers
AliasesPKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel
External IDsOMIM: 173910; MGI: 1099818; HomoloGene: 20104; GeneCards: PKD2; OMA:PKD2 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)
Chromosome 4 (human)Genomic location for PKD2Genomic location for PKD2
Band4q22.1Start88,007,635 bp
End88,077,777 bp
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)
Chromosome 5 (mouse)Genomic location for PKD2Genomic location for PKD2
Band5 E5|5 50.68 cMStart104,607,316 bp
End104,653,685 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • saphenous vein

  • renal medulla

  • ascending aorta

  • synovial joint

  • Descending thoracic aorta

  • germinal epithelium

  • myometrium

  • right coronary artery

  • stromal cell of endometrium
Top expressed in
  • ciliary body

  • iris

  • internal carotid artery

  • Paneth cell

  • vestibular membrane of cochlear duct

  • external carotid artery

  • calvaria

  • semi-lunar valve

  • condyle

  • Epithelium of choroid plexus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5311

18764

Ensembl

ENSG00000118762

ENSMUSG00000034462

UniProt

Q13563

O35245

RefSeq (mRNA)

NM_000297

NM_008861

RefSeq (protein)

NP_000288

NP_032887

Location (UCSC)Chr 4: 88.01 – 88.08 MbChr 5: 104.61 – 104.65 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Polycystin-2 (PC2) is a protein that in humans is encoded by the PKD2 gene.

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

Illustration of PKD1 and PKD2 proteins at the cell membrane
Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1, PKD1 and TNNI3.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000118762Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034462Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "PKD2 polycystin 2, transient receptor potential cation channel [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 16 November 2022.
  6. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (December 1993). "Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23". Genomics. 18 (3): 467–472. doi:10.1016/s0888-7543(11)80001-7. PMID 8307555.
  7. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, et al. (December 1993). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nature Genetics. 5 (4): 359–362. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
  8. ^ "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  9. ^ Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proceedings of the National Academy of Sciences of the United States of America. 96 (7): 3934–3939. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
  10. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proceedings of the National Academy of Sciences of the United States of America. 94 (13): 6965–6970. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
  11. Li Q, Shen PY, Wu G, Chen XZ (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2): 450–457. doi:10.1021/bi0267792. PMID 12525172.

Further reading

External links

Membrane transport protein: ion channels (TC 1A)
Ca: Calcium channel
Ligand-gated
Voltage-gated
Na: Sodium channel
Constitutively active
Proton-gated
Voltage-gated
K: Potassium channel
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H: Proton channel
M: CNG cation channel
M: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders
Ciliary proteins
Nephrocystin
Basal body
BBsome
BBS1
BBS2
BBS4
BBS5
BBS7
TTC8
BBS9
chaperone
MKKS
BBS10
BBS12
Other
ARL6
TRIM32
ALMS1
CC2D2A
CEP290
MKS1
RPGRIP1L
OFD1
AHI1
INVS
NPHP4
NEK8
NPHP1
Cilia
connecting cilia
LCA5
RP1
RPGR
RPGRIP1
TULP1
primary cilia
ARL13B
INPP5E
IQCB1
PKHD1
PKD1
PKD2
TMEM67
Dynein
outer dynein arms
DNAH5
DNAI2
DNAL1
axoneme
DNAH11
DNAI1
Radial spokes
Other
cytoplasm
KTU
nucleus
GLIS2
intraflagellar transport
IFT80
other
AHI1
ARL13B
BRCC3
INPP5E
KIF3A
LRRC50
SDCCAG8
TMEM216
TXNDC3
see also: ciliopathy
TRP channel modulators
TRPA
Activators
Blockers
TRPC
Activators
Blockers
TRPM
Activators
Blockers
TRPML
Activators
Blockers
TRPP
Activators
Blockers
TRPV
Activators
Blockers
See also: Receptor/signaling modulatorsIon channel modulators

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