SLC20A2 (solute carrier family 20 member 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6575 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Solute carrier family 20 member 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SLC20A2 |
SynonymsGene synonyms aliases
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GLVR-2, GLVR2, IBGC1, IBGC2, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1 |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p11.21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protei |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs116122164 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs387906652 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, 3 prime UTR variant |
rs387906653 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, stop gained |
rs387906654 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs398122395 |
A>- |
Pathogenic |
Coding sequence variant, stop gained |
rs398122396 |
GGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, 3 prime UTR variant |
rs398122397 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs751093906 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained, 5 prime UTR variant |
rs886041397 |
G>C |
Pathogenic |
Intron variant, 5 prime UTR variant, stop gained, coding sequence variant |
rs886041752 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1064795684 |
G>C |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1554546372 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1554546830 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1554557554 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554561099 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
rs1554561128 |
->AAAG |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
rs1563431044 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1563452322 |
AC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1563452873 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1563452941 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1563453866 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1563490467 |
C>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, intron variant, frameshift variant |
rs1563497714 |
C>T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs1563497719 |
C>T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs1563498184 |
C>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
rs1586022262 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1586025869 |
T>C |
Pathogenic |
Splice acceptor variant |
rs1586110761 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q08357 |
Protein name |
Sodium-dependent phosphate transporter 2 (Gibbon ape leukemia virus receptor 2) (GLVR-2) (Phosphate transporter 2) (PiT-2) (Pit2) (hPit2) (Solute carrier family 20 member 2) |
Protein 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:28 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01384 |
PHO4 |
24 → 637 |
Phosphate transporter family |
Family |
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Sequence |
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Sequence length |
652 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Basal ganglia calcification |
Idiopathic basal ganglia calcification 1 |
rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903, rs786205904, rs398122395, rs1554546830, rs751093906, rs1563452941, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1563452873, rs1563452322, rs1563453866, rs1563490467, rs1563497714, rs1563498184, rs1563431044, rs1586025869, rs1588003652, rs868530644, rs775762093, rs765483979, rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704 |
24463626, 25284758, 24065723, 15955065, 27726124, 22327515, 23334463, 23939468, 23406454 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Microcephaly |
Microcephaly |
rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 |
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Parkinson disease |
Parkinsonian Disorders |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
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Tumoral calcinosis |
Tumoral calcinosis |
rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386 |
25938945 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
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Basal ganglia diseases |
Basal Ganglia Diseases |
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25938945 |
Bilateral striopallidodentate calcinosis |
Bilateral striopallidodentate calcinosis |
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Brain calcification |
Primary familial brain calcification |
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Congenital anomaly of ischium |
Congenital anomaly of ischium |
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Dysarthria |
Dysarthria |
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Extrapyramidal disease |
Extrapyramidal Disorders |
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25938945 |
Fahr`s syndrome |
Fahr`s syndrome (disorder) |
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27726124, 22327515 |
Lenticulostriate disorders |
Lenticulostriate Disorders |
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25938945 |
Malformation of cortical development |
Malformations of Cortical Development, Group II |
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Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
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Obsessive-compulsive disorder |
Obsessive compulsive behavior |
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Osteopenia |
Osteopenia |
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Psychosis |
Psychotic Disorders |
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Subcutaneous hemorrhage |
Subcutaneous hemorrhage |
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Urticaria |
Urticaria |
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