SLC20A2
entrez
6575
canonical
uniprot
Q08357
canonical
ensembl
ENSG00000168575
resolver
ensp
ENSP00000340465
resolver
ensp
ENSP00000427756
resolver
ensp
ENSP00000429712
resolver
ensp
ENSP00000429754
resolver
ensp
ENSP00000430166
resolver
ensp
ENSP00000430462
resolver
ensp
ENSP00000519279
resolver
ensp
ENSP00000578157
resolver
ensp
ENSP00000578158
resolver
ensp
ENSP00000578159
resolver
ensp
ENSP00000578160
resolver
ensp
ENSP00000578161
resolver
ensp
ENSP00000578166
resolver
ensp
ENSP00000578167
resolver
ensp
ENSP00000578168
resolver
ensp
ENSP00000578169
resolver
ensp
ENSP00000578170
resolver
ensp
ENSP00000578172
resolver
ensp
ENSP00000578173
resolver
ensp
ENSP00000578178
resolver
ensp
ENSP00000578179
resolver
ensp
ENSP00000578180
resolver
ensp
ENSP00000596816
resolver
ensp
ENSP00000596817
resolver
ensp
ENSP00000596818
resolver
ensp
ENSP00000596821
resolver
ensp
ENSP00000596822
resolver
ensp
ENSP00000635973
resolver
ensp
ENSP00000635975
resolver
ensp
ENSP00000635977
resolver
ensp
ENSP00000635981
resolver
ensp
ENSP00000635985
resolver
ensp
ENSP00000635986
resolver
enst
ENST00000342228
resolver
enst
ENST00000517366
resolver
enst
ENST00000518384
resolver
enst
ENST00000518717
resolver
enst
ENST00000520179
resolver
enst
ENST00000520262
resolver
enst
ENST00000713988
resolver
enst
ENST00000908098
resolver
enst
ENST00000908099
resolver
enst
ENST00000908100
resolver
enst
ENST00000908101
resolver
enst
ENST00000908107
resolver
enst
ENST00000908108
resolver
enst
ENST00000908109
resolver
enst
ENST00000908110
resolver
enst
ENST00000908111
resolver
enst
ENST00000908119
resolver
enst
ENST00000908120
resolver
enst
ENST00000908121
resolver
enst
ENST00000926757
resolver
enst
ENST00000926758
resolver
enst
ENST00000926759
resolver
enst
ENST00000926762
resolver
enst
ENST00000926763
resolver
enst
ENST00000965914
resolver
enst
ENST00000965918
resolver
enst
ENST00000965922
resolver
enst
ENST00000965926
resolver
enst
ENST00000965927
resolver
genesymbol
SLC20A2
resolver
genesymbol_syn
GLVR2
resolver
genesymbol_syn
PIT2
resolver
hgnc
HGNC:10947
resolver
uniprot
A0A384MR38
resolver
uniprot
B2RBR4
resolver
uniprot
B4DJ71
resolver
uniprot_entry
A0A384MR38_HUMAN
resolver
uniprot_entry
B2RBR4_HUMAN
resolver
uniprot_entry
B4DJ71_HUMAN
resolver
uniprot_entry
S20A2_HUMAN
resolver
amino_acid_sequence
MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSVLLGAKVGETIRKGIIDVNLYNETVETLMAGEVSAMVGSAVWQLIASFLRLPISGTHCIVGSTIGFSLVAIGTKGVQWMELVKIVASWFISPLLSGFMSGLLFVLIRIFILKKEDPVPNGLRALPVFYAATIAINVFSIMYTGAPVLGLVLPMWAIALISFGVALLFAFFVWLFVCPWMRRKITGKLQKEGALSRVSDESLSKVQEAESPVFKELPGAKANDDSTIPLTGAAGETLGTSEGTSAGSHPRAAYGRALSMTHGSVKSPISNGTFGFDGHTRSDGHVYHTVHKDSGLYKDLLHKIHIDRGPEEKPAQESNYRLLRRNNSYTCYTAAICGLPVHATFRAADSSAPEDSEKLVGDTVSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMKLASELADPDQPREDPAEEEKEEKDAPEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLIYKQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWIRSRKAVDWRLFRNIFVAWFVTVPVAGLFSAAVMALLMYGILPYV
uniprot
proteins
disease_involvement
DISEASE: Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:22327515, ECO:0000269|PubMed:23334463, ECO:0000269|PubMed:23406454, ECO:0000269|PubMed:23939468, ECO:0000269|PubMed:24065723, ECO:0000269|PubMed:24463626, ECO:0000269|PubMed:25284758, ECO:0000269|PubMed:28722801, ECO:0000269|PubMed:30704756}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:12205090, PubMed:15955065, PubMed:16790504, PubMed:17494632, PubMed:22327515, PubMed:28722801, PubMed:30704756). Plays a critical role in the determination of bone quality and strength by providing phosphate for bone mineralization (By similarity). Required to maintain normal cerebrospinal fluid phosphate levels (By similarity). Mediates phosphate-induced calcification of vascular smooth muscle cells (VCMCs) and can functionally compensate for loss of SLC20A1 in VCMCs (By similarity). {ECO:0000250|UniProtKB:Q80UP8, ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:16790504, ECO:0000269|PubMed:17494632, ECO:0000269|PubMed:22327515, ECO:0000269|PubMed:28722801, ECO:0000269|PubMed:30704756}.; FUNCTION: (Microbial infection) Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. {ECO:0000269|PubMed:11435563, ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:8302848}.
uniprot
proteins
mass_dalton
70392
uniprot
proteins
mutagenesis
MUTAGEN 55; /note="E->D,K: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function."; /evidence="ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:16790504"; MUTAGEN 55; /note="E->Q: Abolishes phosphate but not sodium uptake; when associated with Q-91 and Q-575."; /evidence="ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:16790504"; MUTAGEN 81; /note="N->V: Abolishes N-glycosylation."; /evidence="ECO:0000269|PubMed:11356966"; MUTAGEN 91; /note="E->Q: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-575."; /evidence="ECO:0000269|PubMed:16790504"; MUTAGEN 506; /note="D->N: Impairs phosphate transport; no effect on retroviral receptor function."; /evidence="ECO:0000269|PubMed:15955065"; MUTAGEN 575; /note="E->D,K: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function."; /evidence="ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:16790504"; MUTAGEN 575; /note="E->Q: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-91."; /evidence="ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:16790504
uniprot
proteins
protein_family
Inorganic phosphate transporter (PiT) (TC 2.A.20) family
uniprot
proteins
pubmed
11356966
uniprot
proteins
pubmed
11435563
uniprot
proteins
pubmed
12205090
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15955065
uniprot
proteins
pubmed
16790504
uniprot
proteins
pubmed
17494632
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22327515
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23334463
uniprot
proteins
pubmed
23406454
uniprot
proteins
pubmed
23939468
uniprot
proteins
pubmed
24065723
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24463626
uniprot
proteins
pubmed
25284758
uniprot
proteins
pubmed
28722801
uniprot
proteins
pubmed
30704756
uniprot
proteins
pubmed
8302848
uniprot
proteins
pubmed
9151850
uniprot
proteins
sequence_length
652
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28722801, ECO:0000269|PubMed:30704756, ECO:0000269|PubMed:9151850}; Multi-pass membrane protein {ECO:0000269|PubMed:9151850}. Apical cell membrane {ECO:0000250|UniProtKB:Q63488}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 6..26; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 47..67; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 87..107; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 191..211; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 483..503; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 531..551; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 572..586; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 594..609; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 622..642; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins