G6PC3 (glucose-6-phosphatase catalytic subunit 3)

Gene

• Entrez ID: 92579
• Gene name: Glucose-6-phosphatase catalytic subunit 3
• Gene symbol: G6PC3
• Synonyms: SCN4, UGRP
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogeno

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34019455	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs118203968	G>A	Pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs118203969	T>C	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs118203970	C>G,T	Pathogenic	5 prime UTR variant, intron variant, upstream transcript variant, stop gained, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs118203971	G>C	Pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs148559256	C>T	Pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs200478425	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs267606834	A>G	Pathogenic	Non coding transcript variant, initiator codon variant, coding sequence variant, missense variant
rs745582203	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs750695182	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs769441127	C>-	Pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs775224457	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs797044567	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1191239079	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1194477276	C>G,T	Likely-pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, intron variant, upstream transcript variant
rs1597905369	CTCAACCTCATCTTCAAGTGG>-	Pathogenic	5 prime UTR variant, coding sequence variant, splice donor variant, non coding transcript variant, intron variant, genic upstream transcript variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003103	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT022062	hsa-miR-128-3p	Microarray	17612493
MIRT003103	hsa-miR-122-5p	Microarray	17612493
MIRT039531	hsa-miR-652-3p	CLASH	23622248
MIRT1009012	hsa-miR-185	CLIP-seq
MIRT1009013	hsa-miR-3126-3p	CLIP-seq
MIRT1009014	hsa-miR-3179	CLIP-seq
MIRT1009015	hsa-miR-3192	CLIP-seq
MIRT1009016	hsa-miR-3202	CLIP-seq
MIRT1009017	hsa-miR-323-5p	CLIP-seq
MIRT1009018	hsa-miR-3652	CLIP-seq
MIRT1009019	hsa-miR-3659	CLIP-seq
MIRT1009020	hsa-miR-4283	CLIP-seq
MIRT1009021	hsa-miR-4306	CLIP-seq
MIRT1009022	hsa-miR-4314	CLIP-seq
MIRT1009023	hsa-miR-4430	CLIP-seq
MIRT1009024	hsa-miR-4489	CLIP-seq
MIRT1009025	hsa-miR-4493	CLIP-seq
MIRT1009026	hsa-miR-4533	CLIP-seq
MIRT1009027	hsa-miR-4644	CLIP-seq
MIRT1009028	hsa-miR-4646-5p	CLIP-seq
MIRT1009029	hsa-miR-4797-5p	CLIP-seq
MIRT1009030	hsa-miR-574-5p	CLIP-seq
MIRT1009031	hsa-miR-759	CLIP-seq
MIRT1009032	hsa-miR-876-3p	CLIP-seq
MIRT1998968	hsa-miR-122	CLIP-seq
MIRT1009017	hsa-miR-323-5p	CLIP-seq
MIRT1998969	hsa-miR-3690	CLIP-seq
MIRT1998970	hsa-miR-4254	CLIP-seq
MIRT1998971	hsa-miR-4260	CLIP-seq
MIRT1009020	hsa-miR-4283	CLIP-seq
MIRT1009024	hsa-miR-4489	CLIP-seq
MIRT1009029	hsa-miR-4797-5p	CLIP-seq
MIRT1009030	hsa-miR-574-5p	CLIP-seq
MIRT1009032	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	14718531
GO:0004346	Function	Glucose-6-phosphatase activity	IBA	21873635
GO:0004346	Function	Glucose-6-phosphatase activity	IMP	25492228
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006094	Process	Gluconeogenesis	IBA	21873635
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0015760	Process	Glucose-6-phosphate transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016311	Process	Dephosphorylation	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA	21873635

Other IDs

• MIM: 611045
• HGNC: 24861
• e!Ensembl: ENSG00000141349

Protein

• UniProt ID: Q9BUM1
• Protein name: Glucose-6-phosphatase 3 (G-6-Pase 3) (G6Pase 3) (EC 3.1.3.9) (Glucose-6-phosphatase beta) (G6Pase-beta) (Ubiquitous glucose-6-phosphatase catalytic subunit-related protein)
• Protein function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenes
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	37 → 195	PAP2 superfamily	Family

• Sequence:

  MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWI
  SLITEWLNLIFKWFLFGDRPFWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGA
  ALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGA
  VLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
  IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWL
  GHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS

• Sequence length: 346

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
FoxO signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Carbohydrate digestion and absorption

Reactome:

Severe congenital neutropenia type 4 (G6PC3)
Gluconeogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Congenital neutropenia	Congenital neutropenia, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475, rs606231473, rs775224457, rs769441127, rs148559256, rs797044567, rs796065343, rs797045009, rs878855315, rs1555710005, rs879253750, rs879253882, rs1555354200, rs1555354198, rs1555354750, rs890101650, rs759302795, rs57246956, rs138156467, rs1194477276, rs1570588220, rs757401069, rs745582203, rs1191239079, rs1597905369, rs1599294750, rs1594996301, rs1595004126, rs1595004676, rs756667927, rs34019455	19118303, 20616219, 20717171
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Neutropenia	Neutropenia, Neutropenia, Severe Congenital, Autosomal Recessive 4	rs879253882	23018568, 23298686, 20717171, 27577878, 22050868, 20220065, 20799326, 19118303, 24750412, 25391451, 24105461, 27604308, 25492228, 22469094, 19775295, 23758768, 20616219
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease name	Disease term	dbSNP ID	References
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital hypoplasia of thymus	Congenital hypoplasia of thymus
Congenital pectus carinatum	Congenital pectus carinatum
Cor triatriatum	Cor Triatriatum
Dursun syndrome	Dursun Syndrome
Erythroid hypoplasia	Erythroid hypoplasia
High palate	Byzanthine arch palate
Lymphopenia	Lymphopenia
Monocytosis	Monocytosis
Pulmonary stenosis	Pulmonary Stenosis
Vulval varices	Varicosity