MARRVEL: Search Result

Human Gene Description (OMIM)

Gene-Phenotype RelationshipsOMIM

Reported Alleles from OMIMSLC20A2

Control Population Gene Summary (gnomAD database)

Control Population Gene Summary SLC20A2 (ExAC Gene Table)

Allele count
Allele number
Homozygous count
Allele frequency
Gene

Disease Population (Geno2MP database)SLC20A2

Reported Alleles from ClinVarSLC20A2

Copy Number Variation in Control Population (DGV Database)SLC20A2

Position	Size	Type	Subtype	Frequency	Gain	Loss	Sample Size	References	Genes
8 42101598 42331184	229586	CNV	loss	0.01052632	0	1	95	17160897	DKK4 IKBKB POLB VDAC3 SLC20A2
8 42272170 42281624	9454	CNV	deletion	0.00000000	0	0	24	16902084	SLC20A2
8 42277146 42283836	6690	CNV	loss	0.00039936	0	1	2504	21293372	SLC20A2
8 42298934 42299581	647	CNV	deletion	0.00608167	0	7	1151	23128226	SLC20A2
8 42298940 42299584	644	CNV	loss	0.02196486	0	55	2504	21293372	SLC20A2
8 42305168 42305804	636	CNV	deletion	0.00086881	0	1	1151	23128226	SLC20A2
8 42305186 42305771	585	CNV	loss	0.00039936	0	1	2504	21293372	SLC20A2
8 42308500 42310100	1600	CNV	duplication	0.50000000	1	0	2	24896259	SLC20A2
8 42309267 42309741	474	CNV	deletion	0.02083333	0	2	96	23290073	SLC20A2
8 42309595 42313558	3963	CNV	deletion	0.50000000	0	1	2	24896259	SLC20A2
8 42337857 42337857	0	CNV	novel sequence insertion	0.11111111	1	0	9	20440878	SLC20A2
8 42351765 42383142	31377	CNV	insertion	0.11111111	1	0	9	18451855	SLC20A2
8 42367880 42441822	73942	CNV	gain	0.00003438	1	0	29084	25217958	SLC20A2 SMIM19
8 42377151 42380755	3604	CNV	insertion	0.33333333	1	0	3	20482838	SLC20A2

Gene Function TableSLC20A2

Show only best DIOPTv6 score gene

	Homolog	DIOPT Score	Expression	Molecular function	Cellular component	Biological process
Human	SLC20A2	NA	appendix breast bronchus colon duodenum endometrium fallopian tube gallbladder hippocampus liver nasopharynx pancreas placenta prostate rectum salivary gland small intestine stomach urinary bladder	No term based on experiment	extracellular exosome	No term based on experiment
Rat	Slc20a2	9/11	Show all (10) adrenal gland brain gastrocnemius heart kidney liver lung spleen thymus uterus Show only high scores	No term based on experiment	No term based on experiment	No term based on experiment
Slc20a1	3/11	Show all (10) adrenal gland brain gastrocnemius heart kidney liver lung spleen thymus uterus Show only high scores	high-affinity inorganic phosphate:sodium symporter activity	integral component of membrane	sodium ion transport phosphate ion transport
Mouse	Slc20a2	12/13	extraembryonic component cardiovascular system alimentary system nervous system liver and biliary system Show 4 more urinary system reproductive system hemolymphoid system endocrine system Hide	No term based on experiment	No term based on experiment	No term based on experiment
Slc20a1	4/13	alimentary system nervous system liver and biliary system urinary system reproductive system Show 2 more exocrine system embryo mesenchyme Hide	No term based on experiment	plasma membrane	No term based on experiment
Zebrafish	slc20a2	12/12	No structure expressed in wild-type	No term based on experiment	No term based on experiment	No term based on experiment
slc20a1b	4/12	No structure expressed in wild-type	No term based on experiment	No term based on experiment	No term based on experiment
slc20a1a	3/12	blood notochord pronephric duct posterior cardinal vein posterior caudal vein Show 7 more renal tubule pronephric tubule pronephric proximal convoluted tubule pronephric proximal straight tubule proximal convoluted tubule proximal straight tubule developing mesonephric nephron Hide	No term based on experiment	No term based on experiment	No term based on experiment
Drosophila	NaPi-III	9/12	Head Eye Brain Thoracic-Abdominal Ganglion Crop Hindgut Heart Ovary	sodium-dependent phosphate transmembrane transporter activity	No term based on experiment	sodium-dependent phosphate transport
C Elegans	pitr-5	9/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
C Elegans	pitr-3	9/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
pitr-2	7/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
pitr-1	6/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
pitr-6	5/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
pitr-4	4/12		inorganic phosphate transmembrane transporter activity sodium:inorganic phosphate symporter activity	No term based on experiment	phosphate ion transport phosphate ion transmembrane transport sodium ion transmembrane transport
Budding Yeast	PHO89	9/11		sodium:inorganic phosphate symporter activity	endoplasmic reticulum plasma membrane	phosphate ion transport phosphate ion transmembrane transport transmembrane transport

Protein Atlas
GTEx

Organ	Expression Level
adipose tissue	not detected
adrenal gland	low
appendix	high
bone marrow	not detected
breast	high
bronchus	high
caudate	low
cerebellum	not detected
cerebral cortex	medium
cervix, uterine	not detected
colon	high
duodenum	high
endometrium	high
epididymis	medium
esophagus	not detected
fallopian tube	high
gallbladder	high
heart muscle	medium
hippocampus	high
kidney	medium
liver	high
lung	not detected
lymph node	medium
nasopharynx	high
oral mucosa	not detected
ovary	not detected
pancreas	high
parathyroid gland	low
placenta	high
prostate	high
rectum	high
salivary gland	high
seminal vesicle	not detected
skeletal muscle	medium
skin	low
small intestine	high
smooth muscle	not detected
soft tissue	not detected
spleen	not detected
stomach	high
testis	medium
thyroid gland	medium
tonsil	low
urinary bladder	high
vagina	not detected

FlyAtlas Organ/Tissue Expression, larval vs. adult

< 10

< 100

< 500

< 1000

>= 1000

	Adult	Larval
Head	989.7	NA
Eye	973.6	NA
Brain	2075.8	NA
Thoracic-Abdominal Ganglion	2449.3	NA
Crop	478.3	NA
Midgut	53.1	81.3
Hindgut	221.6	447.0
Malpighian Tubules	25.2	9.2
Fat Body	33.1	21.7
Salivary Gland	17.3	72.4
Heart	271.7	NA
Carcass	96.3	543.5
Ovary	755.6	NA
Testis	43.4	NA
VirginFemale Spermatheca	23.9	NA
InseminatedFemale Spermatheca	18.0	NA
Male Accessory Gland	94.7	NA
Central Nervous System	NA	1970.8
Trachea	NA	193.9

Human Gene Protein DomainsDIOPT v6SLC20A2

Index	Domain name	Domain start	Domain stop	Domain description	Protein ID	External ID
hs1	PHO4	<494	637	Phosphate transporter family; pfam01384	NP_006740.1	CDD:216469
hs1	PHO4	24	>164	Phosphate transporter family; pfam01384	NP_006740.1	CDD:216469

Multiple Protein AlignmentDIOPT v6SLC20A2

hs1 --------------------------MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSVLLGAKVGETIRKGIIDVNLYNETVETLMAGEVSA[94] mm1 --------------------------MAMDGYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSVLLGAKVGETIRKGIIDVNLYNETVETLMAGEVSA[94] rn1 --------------------------MAMDGYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSVLLGAKVGETIRKGIIDVNLYNETVETLMAGEVSA[94] dr1 --------------------------MDLESYLWMVVIGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETLGSMLLGAKVGETIRKGIIDVSLYNDTVPILMAGEVSA[94] dm1 -----------------------MESF-APELLWMVVIGFLIAFVLAFGIGANDVANSFGTSVGSGVLTIRQACVLATICEISGAVLIGYKVSDTMRKGILEVGLYEGAEEVLMLGCVAA[96] ce1 MLNVLLDVVTTTLASAIN-----LEDF-RHCFLWALIVGICLAFLLGFGMGANDVANAFGTSVGSKALTLFQAYCLATIFETLGAVLVGYNVIDTMRRGVVDVAVYNNSAGDFMVGQVAV[114] ce2 -----MDTATAMLSGASSTFAGVVGDFDQSSVLWALIVGIILAFLLGAGMGANDVSNAFGTSVGSGVLTIIQAYILASIFETLGSVLVGWSVVDTMRKGVVDISQYENTPKEFLLGQIAV[115] sc1 --------------------------MALHQFDYIFAIAMLFAFLDAFNIGANDVANSFASSISSRSLKYWQAMVLAGLCEFLGAVLAGARVSGTIKNNIIDSSIFTNDPAVLMLTMTSA[94] : : . :.: :**: . .:*****:*:*.:::.* :. ** ** : * *::* * * *::..::: : :: :. hs1 MVGSAVWQLIASFLRLPISGTHCIVGSTIGFSLVAIGTKGV--QWMELVKIVASWFISPLLSGFMSGLLFVLIRIFILKK---EDPVPNGLRALPVFYAATIAINVFSIMYTGAPVLGL-[208] mm1 MVGSAVWQLIASFLRLPISGTHCIVGSTIGFSLVAIGPKGV--QWMELVKIVASWFISPLLSGFMSGVLFILIRMFILTK---EDPVPNGLQALPLFYAATIAINVFSIMYTGAPVLGL-[208] rn1 MVGSAVWQLIASFLRLPISGTHCIVGSTIGFSLVAIGPKGV--QWMELVKIVASWFISPLLSGFMSGVLFILIRMFILTK---EDPVPNGLQALPLFYAATIAINVFSIMYTGAPVLGL-[208] dr1 MVGSAVWQLIASFLKLPISGTHCIVGSTIGFSMVAIGTKGV--QWMQLVKIVSSWFISPLLSGLMSGLLFFVIRYFILSK---DDPVPNGLRALPLFYASTIGINTFSIMYTGAPLLGLE[209] dm1 LASSAVWLLVATFLKLPISGTHSIVGSTIGFSLVARGVQGL--KWSTLGTIVGSWFISPVLSGIVSILLFLAIRRFILRA---QEPLKAGFRSLPIFYGVTFFINVISVVLDGPKLLYMD[211] ce1 LGGTATWLLIATCLQLPVSTTHAVVGATLGFSIACKGFQGI--QWMKVVNIVASWFISPIFAGTVSLILYLFVDHVILRT---SNPVANGLMWLPIFYFACLTFNMFMISYQGSKVLHLS[229] ce2 LGGCSAWLLIATVLHMPVSTTHSLVGATIGFSVVLRGFNGI--QWMAIVKIVCSWFISPVLSGIISSIIYMIVDHTVLRT---ANPLKNGLRALPVFYFVCMAFNALMVFWDGSKLLHFD[230] sc1 LIGSSCWLTFATAIGMPVSTTHSIVGGTIGAGIAAGGANGVVWGWSGVSQIIASWFIAPILAGAIAAIVFSISRFSVLEVKSLERSIKNALLLVGVLVFATFSILTMLIVWKGSPNLHLD[214] : . : * .*: : :*:* **.:**.*:* .:. * :*: * : *: ****:*:::* :: :: :* .: .: : :: : : : : *. * : hs1 VLPMWAIALISFGVALLFAFFVWLFVCPWMRRKITGKLQKEGALSRVSDESLSKV--QEAESPVF-----KELPGAKANDDSTIPLTGA---AGETLGTSEGTSAGS----HPRAAYGRA[314] mm1 SLPIWAIALISFGVALLFAFFVWLFVCPWMKRKIAGRLEKESALSRASDESLRKV--QEAESPGF-----KELPGAKPSDDSAVPLTSL---AGEAVGASEGTSAGN----HPRASYGRA[314] rn1 SLPIWAIALISFGVALLFAFFVWLFVCPWMKRKIAGRLEKESALSRASDESLRKV--QEAESPVF-----KELPGAKASDDSAVPLTSL---AGEAAGASEGTSAGN----HPRASYGRA[314] dr1 MLPVWAIALITLAGALVCAGLVWIFVCPWMRRKIASRLKKEHALSRISDESLDKIPEEEEEAPVF-----KELPGAKSSNDAVLPMTE------ESTGELNSLANGGTVLPNGRV-YGRT[317] dm1 NIPTWIALTASFGLSLLVALLTQLVVVPLQRRKIAKRLRAENPVKFNFEDSVE---SSPSGSPKK-----QRRPLSLVSEGKPLPAIAE---ITELVSLSDNSPRTF-----KLAPFGL-[314] ce1 NVPLWAAIVVSLGAGIIAAAVCYFLVNPRIRKYIAKG-------------------KEARESPTS-----SVVISVTGDPEL------------DKVAIRSESTTTN-------------[300] ce2 EIPVWGIVIIVLGVGTIAAAFANFVMKPRIRAKIQDS-------------------EAPPTPPMF-----SDVESARGSAEL------------E------EFTEGS-------------[295] sc1 DLSETETAVSIVLTGAIASIVYFIFFYPFYRRKVLDQ-----------DWTLKLI--DIFRGPSFYFKSTDDIPPMPEGHQLTIDYYEGRRNLGTTVSVEDEENKA--------------[307] .. . . : : . :.. * : : . . . hs1 LSMTHGSVKSPISNGTFGFDGHT-RSDGHVYHTVHKDSGLYKDLLHKIHIDR----------GPEEK--PAQESNYRLLRRNNSYTCYTAAICGLPVHATFRAAD-SSAPEDSEKLVGDT[420] mm1 LSMTHGSAKSPISNGTFGFEGHM-RNDGHVYHTVHKDSGLYKDLLHKIHVDR----------GSEEK--PTQENNYRLLRRNNSYTCYTAAICGMPVHTTFRASDTSSAPEDSEKLVGDS[421] rn1 LSMTHGSAKSPISNGTFGFEGHM-RNDGHVYHTVHKDSGLYKDLLHKIHVDK----------GPEEK--PAQENNYRLLRRNNSYTCYTAAICGMPVHATFRASDTSSAPEDSEKLVGDT[421] dr1 NSMTNGCLKSPVSNGGFSFDGHM-RSDGQVYHTVHKDSGLYKDLLHKIHKGR----------LEDERHGSRPDNNYRHLRRNNSYTCYTAAICGMPVQPLLRSESSAPPPEDSEKLVGDT[426] dm1 AAKNNNALGEE-----YKIDPQLIKK--------------AEDLLGKASLDNTDLTITSLNFIDEQQQQQQQQQNGRKLQE-----CFKR----------------MQSPKEEQKSKTNS[394] ce1 ASNSCDSLQTPSPSEP---QGKI-RK-------------FFKWLF------------------------P--------------------------------------------------[329] ce2 VTNQQKTMSTP---------GKI-RK-------------FFTWLL------------------------P--------------------------------------------------[318] sc1 ASNSNDSVKN--------------KEDIQ-----------EVDLV------RTE--------TEPETKLSTKQYWWSLLKQ---------------------------GPKKWPLLFWLV[361] : :. *. hs1 VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMKLASELADPDQPR------EDPAEEEKEE--------------KDAPEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLI[520] mm1 VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMRLASELADPDRPH------EDPTEEEKEE--------------KDSAEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLI[521] rn1 VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMRLASELTDPDQPH------EDPAEDEKEE--------------KDSAEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLI[521] dr1 VFYSKKRLRYDSYSSYCNAVAEAEIEAEEGDVDVNLAADKREPRVPAEGV--LEDCVDEDKAE--------------KDNSQVFLLFHFLQILTACFGSFAHGGNDVSNAIGPLVALWMI[530] dm1 IGTD---LETGSTKATNNNL---QVVESGGSLDLMISSTLS-PNSSKVPLIESKEALNEQEEELKRTTGGGRRTSGAEETPEISMLFSFLQILTATFGSFAHGGNDVSNAIGPLIALYMI[507] ce1 -----------------------------------------------------------DKSR--------------VESEDTLRMFTSVQVLTACFAGFAHGANDVCNAIAPLVALIAV[376] ce2 -----------------------------------------------------------DRTR--------------SDSRSITQLFSTIQVFTACFAGFAHGANDVSNAVAPLAAIISV[365] sc1 ISHG-----------WTQDVIHAQVNDRD-----MLSGDLK-------GMY--------ERSK--------------FYDNRVEYIYSVLQAITAATMSFAHGANDVANATGPLSAVYVI[436] :. . :: :* :** .****.***.** .** *: : hs1 YKQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWI----RSRK---------------------AVD[615] mm1 YQQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWI----RSRK---------------------AVD[616] rn1 YKQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWI----RSRK---------------------AVD[616] dr1 YDQGGVMQDAATPVWLLFYGGVGICAGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAVTVVLASNIGLPISTTHCKVGSVVAVGWI----RSRK---------------------AVD[625] dm1 YREGSVMQQAESPIYILIYGGIGISVGLWLWGRRVIETIGNDLTKITSSTGFTIEVGAAITVLLASKIGLPISTTHCKVGSVVFVGHVSASGRKKKSQPNDQTDKETHNEVAPMDDGSVD[627] ce1 YRDFDVYQKKETPITVLLYGVFAICVGLWCLGHKVIRTVGTNMSEVNPASGFCIEFGAAVTALLASKMGLPISTTHCLVGAVVAVGSV----KGGK---------------------ETD[471] ce2 YRTKSVEQKEAVPIYVLLYGVLAICIGLWTFGHYVIKTVGTKMSEINPASGFTIEFGAAMTSLVASKLGLPISTTHCLVGSVVAVGAL----RSED---------------------GVK[460] sc1 WKTNTIGAKSEVPVWVLAYGGVALVIGCWTYGYNIIKNLGNKMILQSPSRGFSIELAVAITTVMATQLGIPTSTTQIAVGGIVAVGLCN---KDLK---------------------SVN[532] : : . *: :* ** ..: * * * :*..:*..: ..: ** **.. *.* ::*:::*:* ***: **.:* ** : . .. hs1 WRLFRNIFVAWFVTVPVAGLFSAAVMALL------MY--GILPYV------[652] mm1 WRLFRNIFVAWFVTVPVAGLFSAAIMALL------MYICGLFSSSR-----[656] rn1 WRLFRNIFIAWFVTVPVAGLFSAAIMALL------MYICGFVSSSR-----[656] dr1 WRLFRNIFLAWFVTVPVAGLFSAAVMALF------VY--GILPYV------[662] dm1 WHLFRNIAYAWIVTVPVTALLSAGMMYVL---------CAIA--VDDMGGA[667] ce1 WSLFRNVAFSWVVTLPVAGLFAALYMWLLHFTIPARY--A-----------[509] ce2 WSTFRNIFMSWVITLPVSGLISAGIMLII------KW--AAL---------[494] sc1 WRMVAWCYSGWFLTLPIAGLIAGIINGII-LNAP-RF--GVEYQMT-----[574] * . .*.:*:*::.*::. :: .