G6PC3 - glucose-6-phosphatase catalytic subunit 3 Gene

Also Known as SCN4; UGRP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92579

About G6PC3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,070,673-44,076,344 (from NCBI)

This gene has 20 transcripts (splice variants), 192 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 23.0), kidney (RPKM 18.2) and 25 other tissues.

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 glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

G6PC3 Products (6)

mRNA	Protein	Name
NM_001319945.2	NP_001306874.1	glucose-6-phosphatase 3 isoform 4
NM_001384165.1	NP_001371094.1	glucose-6-phosphatase 3 isoform 2
NM_001384166.1	NP_001371095.1	glucose-6-phosphatase 3 isoform 2
NM_001384167.1	NP_001371096.1	glucose-6-phosphatase 3 isoform 2
NM_001384168.1	NP_001371097.1	glucose-6-phosphatase 3 isoform 2
NM_138387.4	NP_612396.1	glucose-6-phosphatase 3 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables glucose-6-phosphatase activity	EXP EXP: Inferred from Experiment	14718531	GOA
enables glucose-6-phosphatase activity	IMP IMP: Inferred from mutant phenotype	25492228	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

G6PC3 Protein Structure

PAP2

0
100
200
300
346 a.a.

Protein Preferred Names	Protein Names
glucose-6-phosphatase 3	G-6-Pase 3

Related Diseases

Diseases	Alias
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Dursun Syndrome SCN4 Neutropenia, Severe Congenital 4, Autosomal Recessive DURSS Pulmonary Arterial Hypertension Leukopenia And Atrial Septal Defect Severe Congenital Neutropenia 4, Autosomal Recessive Neutropenia, Severe Congenital, Type 4, Autosomal Recessive Neutropenia, Severe Congenital, Autosomal Recessive 4
Severe Congenital Neutropenia 4	Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency Scn4 Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome Dursun Syndrome Severe Congenital Neutropenia Type 4
Neutropenia	Leukopenia
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
G6pc3 Deficiency	Ubiquitous Glucose-6-Phosphatase Deficiency
Lymphopenia	Lymphocytopenia
Autosomal Recessive Severe Congenital Neutropenia
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Severe Congenital Neutropenia 5	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome Vps45 Deficiency Scn5
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Whim Syndrome 1	Whim Syndrome Whims Warts, Hypogammaglobulinemia, Infections, And Myelokathexis WHIMS1 Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1 Myelokathexis, Isolated Wilm Warts-Infections-Leukopenia-Myelokatexis Syndrome Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Myotonia
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Leukocyte Adhesion Deficiency, Type I	Leukocyte Adhesion Deficiency Leukocyte Adhesion Deficiency 1 LAD1 Lad Lymphocyte Function-Associated Antigen 1 Immunodeficiency Leukocyte Adhesion Deficiency Type I Leukocyte Adhesion Deficiency Type 1 Linear Iga Bullous Dermatosis Linear Iga Dermatosis Leukocyte-Adhesion Deficiency Syndrome Lfa1 Immunodeficiency Congenital Leukocyte Adherence Deficiency Lad-I Linear Iga Disease Leukocyte Adhesion Deficiency Syndrome Lad 1 Lfa 1 Immunodeficiency Linear Immunoglobulin A Dermatosis Leucocyte Adhesion Deficiency Type 1 Leukocyte Adhesion Molecule Deficiency Type 1
Severe Congenital Neutropenia 6	Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency Scn6
Pancytopenia
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Chronic Pulmonary Heart Disease
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ulcerative Stomatitis	Stomatitis Ulcerative Aphthous Stomatitis Minor Oral Aphthous Ulceration
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05193	G6PC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20932	G6pc3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27449	G6pc3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	G6PC3	VGNC	VGNC:41042
Felis catus	G6PC3	VGNC	VGNC:62410
Mus musculus	G6PC3	MGD	MGI:1915651
Rattus norvegicus	G6PC3	RGD	RGD:727875
Macaca mulatta	G6PC3	VGNC	VGNC:104601
Bos taurus	G6PC3	VGNC	VGNC:29180
Others	G6PC3	NCBI