SLC20A2

SLC20A2
Identifikatori
Aliasi	SLC20A2
Vanjski ID-jevi	OMIM: 158378 MGI: 97851 HomoloGene: 68531 GeneCards: SLC20A2
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	42,541,926 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	23,059,628 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• sodium:phosphate symporter activity; • symporter activity; • virus receptor activity; • inorganic phosphate transmembrane transporter activity; • sodium:inorganic phosphate symporter activity; • signaling receptor activity;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • integral component of plasma membrane; • Egzosom; • membrana;
Biološki proces	• sodium ion transport; • viral entry into host cell; • phosphate ion transport; • GO:0022415 viral process; • ion transport; • sodium ion transmembrane transport; • transmembrane transport; • phosphate ion transmembrane transport; • sodium-dependent phosphate transport; • GO:0015915 transport;
	Izvori:Amigo / QuickGO
Ortolozi
	6575
	20516
	ENSG00000168575
	ENSMUSG00000037656
	Q08357
	Q80UP8
	NM_001257180; NM_001257181; NM_006749
	NM_011394
	NP_001244109; NP_001244110; NP_006740
	NP_035524
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Natrij-ovisni fosfatni transporter 2 je protein koji je kod ljudi kodiran genom SLC20A2.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 652 aminokiseline, а molekulska težina 70.392 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAMDEYLWMV	ILGFIIAFIL	AFSVGANDVA	NSFGTAVGSG	VVTLRQACIL
ASIFETTGSV	LLGAKVGETI	RKGIIDVNLY	NETVETLMAG	EVSAMVGSAV
WQLIASFLRL	PISGTHCIVG	STIGFSLVAI	GTKGVQWMEL	VKIVASWFIS
PLLSGFMSGL	LFVLIRIFIL	KKEDPVPNGL	RALPVFYAAT	IAINVFSIMY
TGAPVLGLVL	PMWAIALISF	GVALLFAFFV	WLFVCPWMRR	KITGKLQKEG
ALSRVSDESL	SKVQEAESPV	FKELPGAKAN	DDSTIPLTGA	AGETLGTSEG
TSAGSHPRAA	YGRALSMTHG	SVKSPISNGT	FGFDGHTRSD	GHVYHTVHKD
SGLYKDLLHK	IHIDRGPEEK	PAQESNYRLL	RRNNSYTCYT	AAICGLPVHA
TFRAADSSAP	EDSEKLVGDT	VSYSKKRLRY	DSYSSYCNAV	AEAEIEAEEG
GVEMKLASEL	ADPDQPREDP	AEEEKEEKDA	PEVHLLFHFL	QVLTACFGSF
AHGGNDVSNA	IGPLVALWLI	YKQGGVTQEA	ATPVWLLFYG	GVGICTGLWV
WGRRVIQTMG	KDLTPITPSS	GFTIELASAF	TVVIASNIGL	PVSTTHCKVG
SVVAVGWIRS	RKAVDWRLFR	NIFVAWFVTV	PVAGLFSAAV	MALLMYGILP
YV

Genomika

Ovaj gen se nalazi na kratkom kraku hromosoma 8, sekvenca 8p12-p11, na minus (Crickovom) lancu. Dužina je 123.077 bp. Kodirani protein ima 652 aminokiseline, a predviđena molekulska težina proteina je 70.392 kiloDaltona.

Funkcija

Protein djeluje kao homodimer i uključen je u transport fosfata, apsorbiranjem fosfata iz intersticijske tekućine za normalne ćelijskee funkcije, kao što su ćelijskii metabolizam, transdukcija signala i sinteza nukleinskih kiselina i lipida.

Klinički značaj

Mutacije u genu SLC20A2 povezane su s idiopatskom kalcifikacijom baznih ganglija (Fahrov sindrom). Ova povezanost sugerira da je porodična idiopatska kalcifikacija baznih ganglija uzrokovana promjenama u homeostazi fosfata, budući da ovaj gen kodira PIT-2, anorganski transporter fosfata.^[9]

Također pogledajte

Porodica rastvornih nosača

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168575 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037656 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kozak SL, Siess DC, Kavanaugh MP, Miller AD, Kabat D (Jun 1995). "The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species". J Virol. 69 (6): 3433–40. doi:10.1128/JVI.69.6.3433-3440.1995. PMC 189055. PMID 7745689.
^ Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L (Nov 2006). "Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2". Am J Physiol Cell Physiol. 291 (6): C1377–87. doi:10.1152/ajpcell.00015.2006. PMID 16790504. S2CID 6459667.
^ "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".
^ "UniProt, Q08357" (jezik: engleski). Pristupljeno 21. 9. 2021.
^ Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (februar 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat Genet. 44 (3): 254–6. doi:10.1038/ng.1077. PMID 22327515. S2CID 2515200.

Dopunska literatura

Garcia JV, Jones C, Miller AD (1991). "Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8". J. Virol. 65 (11): 6316–9. doi:10.1128/JVI.65.11.6316-6319.1991. PMC 250343. PMID 1656098.
van Zeijl M, Johann SV, Closs E, et al. (1994). "A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family". Proc. Natl. Acad. Sci. U.S.A. 91 (3): 1168–72. Bibcode:1994PNAS...91.1168V. doi:10.1073/pnas.91.3.1168. PMC 521475. PMID 8302848.
Salaün C, Gyan E, Rodrigues P, Heard JM (2002). "Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration". J. Virol. 76 (9): 4304–11. doi:10.1128/JVI.76.9.4304-4311.2002. PMC 155110. PMID 11932396.
Bottger P, Pedersen L (2003). "Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function". J. Biol. Chem. 277 (45): 42741–7. doi:10.1074/jbc.M207096200. PMID 12205090.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bøttger P, Pedersen L (2004). "The central half of Pit2 is not required for its function as a retroviral receptor". J. Virol. 78 (17): 9564–7. doi:10.1128/JVI.78.17.9564-9567.2004. PMC 506934. PMID 15308749.
Bøttger P, Pedersen L (2005). "Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2". FEBS J. 272 (12): 3060–74. doi:10.1111/j.1742-4658.2005.04720.x. PMID 15955065. S2CID 25673076.
Ravera S, Virkki LV, Murer H, Forster IC (2007). "Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements" (PDF). Am. J. Physiol., Cell Physiol. 293 (2): C606–20. doi:10.1152/ajpcell.00064.2007. PMID 17494632. Arhivirano s originala (PDF), 21. 9. 2021. Pristupljeno 21. 9. 2021.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168575 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037656 - 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.

[pmid7745689-5] Kozak SL, Siess DC, Kavanaugh MP, Miller AD, Kabat D (Jun 1995). "The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species". J Virol. 69 (6): 3433–40. doi:10.1128/JVI.69.6.3433-3440.1995. PMC 189055. PMID 7745689.

[pmid16790504-6] Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L (Nov 2006). "Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2". Am J Physiol Cell Physiol. 291 (6): C1377–87. doi:10.1152/ajpcell.00015.2006. PMID 16790504. S2CID 6459667.

[entrez-7] "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".

[UniProt-8] "UniProt, Q08357" (jezik: engleski). Pristupljeno 21. 9. 2021.

[pmid22327515-9] Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (februar 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat Genet. 44 (3): 254–6. doi:10.1038/ng.1077. PMID 22327515. S2CID 2515200.

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