G6PC3 (glucose-6-phosphatase catalytic subunit 3)

Gene

• Entrez ID: 92579
• Gene name: Glucose-6-phosphatase catalytic subunit 3
• Gene symbol: G6PC3
• Synonyms (NCBI Gene): SCN4, UGRP
• Disease Acronyms (UniProt): SCN4
• 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

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and perip
• 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 term	Disease name	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 term	Disease name	Evidence	References	Source
Congenital Neutropenia	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Albinism Oculocutaneous	Associate	21677667
Asthma	Associate	34305938
Brain Neoplasms	Associate	38034009
Central Nervous System Vascular Malformations	Associate	25391451
Congenital Abnormalities	Associate	25491320
Craniosynostoses	Associate	20220065
Crohn Disease	Associate	23171239, 25491320, 31157858
Cryptorchidism	Associate	34305938
Death	Associate	25491320
Death Sudden	Associate	25491320
Diabetes Gestational	Associate	35926094
Diarrhea	Associate	25491320
Glioblastoma	Associate	38034009
Heart Diseases	Associate	25491320
Hemorrhage	Associate	30040071
Hernia Inguinal	Associate	34305938
Immunologic Deficiency Syndromes	Stimulate	25391451
Immunologic Deficiency Syndromes	Associate	31157858
Infections	Associate	25391451, 33259599
Inflammatory Bowel Diseases	Associate	31157858, 34305938
Insulin Resistance	Associate	33669862
Intellectual Disability	Associate	25491320
Leukemia Myeloid Acute	Associate	25491320
Lymphohistiocytosis Hemophagocytic	Associate	34537050
Lymphopenia	Associate	31157858
Metabolic Diseases	Associate	33259599
Muscle Cramp	Associate	25491320
Myeloproliferative Syndrome Transient	Associate	20220065
Myotonic Disorders	Associate	33602114
Neoplasms	Associate	25491320
Neural Tube Defects	Associate	25491320
Neutropenia	Associate	20220065, 21677667, 21891829, 23454784, 25391451, 25491320, 33259599, 35525891, 36485107, 36546889, 40358701
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	19118303, 19398129, 19775295, 20220065, 20717171, 21385794, 21891829, 23171239, 23454784, 25391451, 25491320, 30040071, 31157858, 33259599, 34305938, 35525891, 36485107, 36546889
Neutropenia Severe Congenital Autosomal Recessive 4	Associate	34305938
Neutrophil Actin Dysfunction	Associate	21385794
Oculocutaneous Albinism Type IV	Associate	23171239
Oral Ulcer	Associate	34305938
Organizing Pneumonia	Associate	21385794
Otitis Media	Associate	34305938
Pneumonia	Associate	34305938
Pulmonary Valve Insufficiency	Associate	25491320
Scapuloperoneal myopathy	Associate	25491320
Sepsis	Associate	25491320
Steatorrhea	Associate	25491320
Thrombocytopenia	Associate	33259599
Urogenital Abnormalities	Associate	19118303, 21891829
WHIM syndrome	Associate	35525891