Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	92579
Gene name	Glucose-6-phosphatase catalytic subunit 3
Gene symbol	G6PC3
Synonyms (NCBI Gene)	SCN4UGRP
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

Show/Hide all (16)

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

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003103	hsa-miR-122-5p	Luciferase reporter assayqRT-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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	14718531
GO:0004346	Function	Glucose-6-phosphatase activity	IBA
GO:0004346	Function	Glucose-6-phosphatase activity	IEA
GO:0004346	Function	Glucose-6-phosphatase activity	IMP	25492228
GO:0004346	Function	Glucose-6-phosphatase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006094	Process	Gluconeogenesis	IBA
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
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA

MIM	HGNC	e!Ensembl
611045	24861	ENSG00000141349

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

Interactions

View interactions

	KEGG		Reactome
	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		Severe congenital neutropenia type 4 (G6PC3) Gluconeogenesis

389

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Pathogenic; Likely pathogenic	rs778208850, rs2144147052, rs748931188, rs769634275, rs772298089, rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs1194477276, rs1056739194, rs775224457, rs769441127, rs148559256 View all (27 more)	RCV001377785 RCV001824234 RCV001885383 RCV002021924 RCV001931536 RCV000001092 RCV000001093 RCV000001094 RCV000001095 RCV001815156 RCV002283953 RCV003064457 RCV000192087 RCV000192088 RCV000192089 RCV000192090 RCV002885411 RCV003496187 RCV003495515 RCV003495021 RCV003494753 RCV003495987 RCV003495663 RCV003496676 RCV003496710 RCV003600492 RCV003600539 RCV003602199 RCV003602104 RCV003602221 RCV003602218 RCV003602488 RCV003599911 RCV003856756 RCV003991691 RCV000023859 RCV000779221 RCV000808701 RCV001385765 RCV001815446 RCV003325986 RCV001203763 RCV001301378
Inherited Immunodeficiency Diseases	Pathogenic	rs34019455	RCV001027572

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs766176177	RCV005921235
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs141663645	RCV005903013
G6PC3-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2050092821, rs767810900, rs113416399, rs370859437, rs780718603, rs777505318, rs144594971, rs34878178	RCV003416480 RCV003968583 RCV003891759 RCV003894622 RCV003953160 RCV003918535 RCV003910810 RCV003923211
Severe congenital neutropenia	Uncertain significance	rs886052984, rs761219348	RCV000406856 RCV000383356
Uterine corpus endometrial carcinoma	Uncertain significance	rs752548565	RCV005924020

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 View all (3 more)
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

G6PC3 (glucose-6-phosphatase catalytic subunit 3)