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Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC34A3


Basic description
Gene Name SLC34A3
Protein Name Sodium-dependent phosphate transport protein 2C (Sodium-phosphate transport protein 2C) (Na(+)-dependent phosphate cotransporter 2C) (Sodium/inorganic phosphate cotransporter IIC) (Sodium/phosphate cotransporter 2C) (Na(+)/Pi cotransporter 2C) (NaPi-2c) (Solute carrier family 34 member 3)
Family SLC34
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC34A3 cotransports Pi, 2Na+
Reaction 1 Pi [extracellular region] + 2 Na+ [extracellular region] --> 1 Pi [cytosol] + 2 Na+ [cytosol]

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 5 6 0 5 7 0 5 8 0 5 9 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520        530        540        550        560        570        580        590 
MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL KDTSQPWKEL RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL GSKVAGDIFK DNVVLSNPVA GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL LTVRVSVPII MGVNVGTSIT STLVSMAQSG DRDEFQRAFS GSAVHGIFNW LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK VLTKPLTHLI VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL RGRVAQVVRT VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV PLMGVGVISL DRAYPLLLGS NIGTTTTALL AALASPADRM LSALQVALIH FFFNLAGILL WYLVPALRLP IPLARHFGVV TARYRWVAGV YLLLGFLLLP LAAFGLSLAG GMVLAAVGGP LVGLVLLVIL VTVLQRRRPA WLPVRLRSWA WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL 
CCCCCCCCCC CCCCCCHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCHHH CCCCCCHHHH CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCHHHHHHHH HCCCCCCHHH HHHHHHHHHH HHCCCCHHHH HHHHHHHCCC CCCCCCCCEE EEEEHHHHHH HHHHHHCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CHHHCHHHHH HHHHCCCCHH HHHCHHHHHH HHHHCHHCCC HHHHHCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHHH HHCCCCCCCC HHHHHHHHHH HHHHHHHEEC CCHHHHHCCC CCCCCCCCCH HHHHHHHCCC CCCHHHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCHHHCCCC CCCHHHHHCC CCHHHHHHHC CCCCCCCCCC CCCCCCCCCC HHHHCCCCC
[Overview] SLC34A1 SLC34A2 SLC34A3 
SLC34A1   MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRI--------PGTSAYAFPSLGPVALAEHT---------CPCGEVLERHEP--LPAKLALEE------EQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLVQSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCH------------PDSLQAPT-SMSRAEANSSQTLGNAT----MEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRAT-------LCCARPEPRSPPL---PPRVF--------LEE------LPPATPS-------PRLA---LPAHHNATRL---
SLC34A2   MAPWPE-LGDAQPNP-----DKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLID---------------EPTEVDDPWNLP---TLQDSGIKWSERDTKGKILCFFQGIGRLI----LLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRAAIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHYLEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVKIWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLPDLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAILVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNALRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLIPLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSLKPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCGCPKCCRCSKCCEDLEEAQEGQDVPVKAPETFDNITISREAQGEVPASDSKTECTAL
SLC34A3   -----------MPSSL---------------------------------PGSQV-PHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDT-DPWTLP---QLKDTSQPWKELRVAGRL---RRVAGSVL-KACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLERLSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGN--ATNSSLIKHWCGTTGQ--------PTQENSSC------GAFGPCTEKNSTAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGSNIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMVLAAVGGPLVGLVLLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLEPWDRLVTR---------CCPCNV--------CSPPKAT--------TKEA-----YCYENPE--------------ILASQQL------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC34A3 67 R/H 0.0987429 rs34372115
-- SLC34A3 71 G/S 0.00014998 rs570528948
-- SLC34A3 81 G/D 0.000180407 rs201273897
-- SLC34A3 92 V/I 0.000139858 rs576714301
-- SLC34A3 138 S/F 0.000103199 rs141734934
-- SLC34A3 153 V/A 0.000100532 rs139302994
-- SLC34A3 165 V/I 0.000408294 rs146054276
-- SLC34A3 180 G/A 0.012942 rs35643193
-- SLC34A3 182 R/Q 0.000140947 rs759525091
-- SLC34A3 192 S/L 0.0004362 rs199690076
-- SLC34A3 212 A/T 0.000148386 rs754447323
-- SLC34A3 213 T/M 0.000190326 rs752335467
-- SLC34A3 227 A/T 0.000548221 rs200814479
-- SLC34A3 230 T/P 0.00016767 rs200507464
-- SLC34A3 233 A/V 0.000145494 rs370826757
-- SLC34A3 237 D/N 0.00159461 rs145877051
-- SLC34A3 260 S/N 0.00472142 rs142918575
-- SLC34A3 261 S/G 0.000267403 rs201964796
-- SLC34A3 264 G/S 0.000969982 rs148072630
-- SLC34A3 267 T/P 0.000115796 rs145899150
-- SLC34A3 279 T/M 0.000565561 rs150570831
-- SLC34A3 307 L/M 0.000503249 rs202109348
-- SLC34A3 310 R/H 0.00152242 rs200477567
-- SLC34A3 316 T/M 0.000211958 rs781170265
-- SLC34A3 337 G/S 0.0205029 rs35699762
-- SLC34A3 354 V/M 0.00012324 rs534880363
-- SLC34A3 375 G/S 0.000577413 rs201759654
-- SLC34A3 388 A/T 0.000190188 rs201683019
-- SLC34A3 485 R/H 0.00253027 rs138872455
-- SLC34A3 485 R/C 0.000552607 rs145029982
-- SLC34A3 488 A/P 0.000105752 rs149389629
-- SLC34A3 495 G/A 0.000236984 rs140869490
-- SLC34A3 502 A/V 0.00012339 rs571107918
-- SLC34A3 512 M/T 0.000233145 rs199629080
-- SLC34A3 513 E/V 0.881769 rs28542318
-- SLC34A3 529 I/F 0.00244932 rs140639805
-- SLC34A3 536 R/W 0.000172992 rs142206230
-- SLC34A3 537 R/H 0.000431691 rs146757110
-- SLC34A3 537 R/C 0.000101231 rs781443814
-- SLC34A3 538 R/W 0.00016889 rs140319849
-- SLC34A3 564 R/C 0.000147885 rs561825324
-- SLC34A3 574 V/I 0.000127712 rs527814598
-- SLC34A3 576 S/I 0.000607042 rs200090657
-- SLC34A3 589 E/K 0.00033518 rs376700316
-- SLC34A3 593 I/M 0.00127323 rs371619695

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC34A3 SLC34A3 [plasma membrane] Type II Na+/Pi cotransporters

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC34A3 SLC34A3 P303Rfs*40 [plasma membrane] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
SLC34A3 SLC34A3 G191R [plasma membrane] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
SLC34A3 SLC34A3 R468W [plasma membrane] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
SLC34A3 SLC34A3 C77Afs*75 [plasma membrane] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
SLC34A3 SLC34A3 G196R [plasma membrane] Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)