PKD2

S Wikipedije, slobodne enciklopedije
PKD2
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

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

Identifikatori
AliasiPKD2
Vanjski ID-jeviOMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Lokacija gena (čovjek)
Hromosom 4 (čovjek)
Hrom.Hromosom 4 (čovjek)[1]
Hromosom 4 (čovjek)
Genomska lokacija za PKD2
Genomska lokacija za PKD2
Bend4q22.1Početak88,007,635 bp[1]
Kraj88,077,777 bp[1]
Lokacija gena (miš)
Hromosom 5 (miš)
Hrom.Hromosom 5 (miš)[2]
Hromosom 5 (miš)
Genomska lokacija za PKD2
Genomska lokacija za PKD2
Bend5 E5|5 50.68 cMPočetak104,607,316 bp[2]
Kraj104,653,685 bp[2]
Ontologija gena
Molekularna funkcija transmembrane transporter binding
cytoskeletal protein binding
signaling receptor binding
muscle alpha-actinin binding
metal ion binding
HLH domain binding
voltage-gated cation channel activity
protein homodimerization activity
calcium-induced calcium release activity
channel activity
GO:0001948, GO:0016582 protein binding
actinin binding
voltage-gated calcium channel activity
calcium channel activity
phosphoprotein binding
alpha-actinin binding
identical protein binding
ATPase binding
calcium ion binding
outward rectifier potassium channel activity
voltage-gated sodium channel activity
voltage-gated potassium channel activity
potassium channel activity
voltage-gated ion channel activity
Ćelijska komponenta filamentous actin
membrana
integral component of cytoplasmic side of endoplasmic reticulum membrane
projekcija ćelije
Egzosom
lamellipodium
integral component of membrane
basal plasma membrane
integral component of lumenal side of endoplasmic reticulum membrane
ciliary membrane
polycystin complex
Treplja
Ćelijska membrana
cell-cell junction
ciliary basal body
Endoplazmatski retikulum
basal cortex
mitotic spindle
citoplazma
motile cilium
non-motile cilium
integral component of plasma membrane
endoplasmic reticulum membrane
basolateral plasma membrane
cytoplasmic vesicle membrane
GO:0016023 citoplazmatska vezikula
Biološki proces regulation of calcium ion import
cellular response to osmotic stress
GO:1990376 negative regulation of G1/S transition of mitotic cell cycle
heart looping
metanephric S-shaped body morphogenesis
negative regulation of cell population proliferation
mesonephric tubule development
renal system development
metanephric cortex development
Nefrogeneza
cytoplasmic sequestering of transcription factor
ion transport
metanephric ascending thin limb development
branching involved in ureteric bud morphogenesis
neural tube development
spinal cord development
metanephric distal tubule development
centrosome duplication
cellular calcium ion homeostasis
determination of liver left/right asymmetry
cellular response to fluid shear stress
aorta development
cellular response to hydrostatic pressure
metanephric mesenchyme development
renal artery morphogenesis
metanephric cortical collecting duct development
mesonephric duct development
positive regulation of cytosolic calcium ion concentration
positive regulation of nitric oxide biosynthetic process
GO:0072353 cellular response to reactive oxygen species
GO:1901313 positive regulation of gene expression
metanephric part of ureteric bud development
regulation of cell population proliferation
metanephric smooth muscle tissue development
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II
heart development
receptor signaling pathway via JAK-STAT
detection of mechanical stimulus
embryonic placenta development
detection of nodal flow
liver development
placenta blood vessel development
renal tubule morphogenesis
determination of left/right symmetry
regulation of postsynaptic membrane potential
negative regulation of ryanodine-sensitive calcium-release channel activity
calcium ion transport
release of sequestered calcium ion into cytosol
calcium ion transmembrane transport
cellular response to calcium ion
sodium ion transmembrane transport
protein homotetramerization
cellular response to cAMP
potassium ion transmembrane transport
potassium ion transport
regulation of ion transmembrane transport
GO:0015915 transport
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000297

NM_008861

RefSeq (bjelančevina)

NP_000288

NP_032887

Lokacija (UCSC)Chr 4: 88.01 – 88.08 MbChr 5: 104.61 – 104.65 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Policistin-2 jest protein koji je kod ljudi kodiran genom PKD2 sa hromosoma 4.[5][6]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 968 aminokiselina, а molekulska težina 109 691 Da.[7]

1020304050
MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQR
GLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEE
EEVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHP
SGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGL
WGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYGMMSSNVYYYT
RMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ
TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSV
SSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTRE
ETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGG
VIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKL
HYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEH
LAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF
AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIE
EANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMEL
SDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGH
TDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPM
SSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRME
HSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI
HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQ
STEGMEGAGGNGSSNVHV

Funkcija[uredi | uredi izvor]

Ovaj gen kodira člana porodice proteina policistina, zvanog TRPP2, ranije poznatog kao policistin-2, PC2 ili APKD2. TRPP2 sadrži višestruke transmembranske domene i citoplazmatske i C-krajeve. Protein može biti integralni membranski protein uključen u interakcije ćelija–ćelija/matriks. TRPP2 može funkcionirati u razvoju morfologiji i funkciji bubrežne cijevi i može modulirati međućelijsku homeostazu kalcija i druge puteve transdukcije signala. Ovaj protein stupa u interakciju sa policistinom 1 (TRPP1), kako bi proizveo kation-permeabilne struje. Otkrioga je Stefan Somlo na Yale University.

Proteini PKD1 i PKD2 na ćelijskoj membrani
Proteini PKD1 i PKD2 na ćelijskoj membrani

Klinički značaj[uredi | uredi izvor]

Mutacije ovog gena su povezane sa autosomno dominantnom bolešću policistastih bubrega.[6]

Interakcije[uredi | uredi izvor]

Pokazalo se da policistin 2 ima interakcije sa proteinima:
TRPC1,[8]
PKD1[8][9] i
TNNI3.[10]

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, maj 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. ^ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (mart 1994). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nat Genet. 5 (4): 359–62. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
  6. ^ a b "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  7. ^ "UniProt, Q13563" (jezik: engleski). Pristupljeno 30. 10. 2021.
  8. ^ a b Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (mart 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.
  9. ^ Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (juni 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.
  10. ^ Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (Jan 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.

Dopundska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]

Šablon:Trepljasti proteini Šablon:Modulatori tranzitnih receptora potencijalnih kanala