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Aliases for G6PC3 Gene

Aliases for G6PC3 Gene

  • Glucose-6-Phosphatase Catalytic Subunit 3 2 3 5
  • Ubiquitous Glucose-6-Phosphatase Catalytic Subunit-Related Protein 3 4
  • Glucose 6 Phosphatase, Catalytic, 3 2 3
  • G6Pase-Beta 3 4
  • G-6-Pase 3 3 4
  • EC 3.1.3.9 4 56
  • G6Pase 3 3 4
  • UGRP 3 4
  • Ubiquitously Expressed G6Pase Catalytic Subunit-Related Protein 3
  • Glucose-6-Phosphatase Beta 4
  • Glucose-6-Phosphatase 3 3
  • SCN4 3

External Ids for G6PC3 Gene

Previous GeneCards Identifiers for G6PC3 Gene

  • GC17P042623
  • GC17P039503
  • GC17P042148
  • GC17P037912

Summaries for G6PC3 Gene

Entrez Gene Summary for G6PC3 Gene

  • 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]

GeneCards Summary for G6PC3 Gene

G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3) is a Protein Coding gene. Diseases associated with G6PC3 include Neutropenia, Severe Congenital, 4, Autosomal Recessive and Neutropenia. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC.

UniProtKB/Swiss-Prot for G6PC3 Gene

  • 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 gluconeogenesis. Probably required for normal neutrophil function.

Gene Wiki entry for G6PC3 Gene

Additional gene information for G6PC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for G6PC3 Gene

Genomics for G6PC3 Gene

GeneHancer (GH) Regulatory Elements for G6PC3 Gene

Promoters and enhancers for G6PC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I044069 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.3 +0.2 190 3.1 HDGF FOXA2 PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 YY1 G6PC3 LINC00910 ASB16-AS1 DHX8 HMGN1P29 TMUB2 GJC1 NBR2 GC17P044075 PIR62395
GH17I044101 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 20.5 +36.9 36925 12.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ASB16-AS1 ASB16 NAGS G6PC3 HMGN1P29 LINC00910 C17orf53 ENSG00000267002 DHX8 TMUB2
GH17I044094 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +26.2 26173 4.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ASB16 G6PC3 TMEM101 ASB16-AS1 LSM12 RNU6-131P C17orf53 HDAC5 ENSG00000221044 PYY
GH17I044003 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 8 -64.4 -64418 5 HDGF PKNOX1 ZFP64 ARID4B SIN3A YY1 ZNF213 ZNF143 KLF13 PAF1 NAGS PYY G6PC3 TMEM101 PIR35856 GC17P043983
GH17I043983 Enhancer 1.5 FANTOM5 Ensembl ENCODE 7.4 -86.6 -86644 1.7 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF143 GC17P043983 TMEM101 MPP2 PPY ENSG00000221044 NAGS G6PC3 PYY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around G6PC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the G6PC3 gene promoter:

Genomic Locations for G6PC3 Gene

Genomic Locations for G6PC3 Gene
chr17:44,070,730-44,076,344
(GRCh38/hg38)
Size:
5,615 bases
Orientation:
Plus strand
chr17:42,148,098-42,153,712
(GRCh37/hg19)

Genomic View for G6PC3 Gene

Genes around G6PC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC3 Gene

Proteins for G6PC3 Gene

  • Protein details for G6PC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUM1-G6PC3_HUMAN
    Recommended name:
    Glucose-6-phosphatase 3
    Protein Accession:
    Q9BUM1
    Secondary Accessions:
    • Q8WU15

    Protein attributes for G6PC3 Gene

    Size:
    346 amino acids
    Molecular mass:
    38735 Da
    Quaternary structure:
    No Data Available

neXtProt entry for G6PC3 Gene

Selected DME Specific Peptides for G6PC3 Gene

Q9BUM1:
  • VPMERELSFYGLT
  • AHFPHQV
  • TLWPCLV

Post-translational modifications for G6PC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for G6PC3 Gene

Gene Families for G6PC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for G6PC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUM1

UniProtKB/Swiss-Prot:

G6PC3_HUMAN :
  • Belongs to the glucose-6-phosphatase family.
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC3: view

Function for G6PC3 Gene

Molecular function for G6PC3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.0 mM for glucose-6-phosphate (at pH 5.5) {ECO:0000269 PubMed:12965222, ECO:0000269 PubMed:13129915}; KM=2.0 mM for glucose-6-phosphate (at pH 6.5) {ECO:0000269 PubMed:12965222, ECO:0000269 PubMed:13129915}; Note=8 times less active compared to G6PC under the same experimental conditions.;
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by vanadate.
UniProtKB/Swiss-Prot 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 gluconeogenesis. Probably required for normal neutrophil function.

Enzyme Numbers (IUBMB) for G6PC3 Gene

Phenotypes From GWAS Catalog for G6PC3 Gene

Gene Ontology (GO) - Molecular Function for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004346 glucose-6-phosphatase activity IMP 25492228
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with G6PC3: view
genes like me logo Genes that share phenotypes with G6PC3: view

Human Phenotype Ontology for G6PC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC3 Gene

MGI Knock Outs for G6PC3:

Animal Model Products

  • Taconic Biosciences Mouse Models for G6PC3

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for G6PC3 Gene

Localization for G6PC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for G6PC3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with G6PC3: view

Pathways & Interactions for G6PC3 Gene

genes like me logo Genes that share pathways with G6PC3: view

UniProtKB/Swiss-Prot Q9BUM1-G6PC3_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Gene Ontology (GO) - Biological Process for G6PC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006796 phosphate-containing compound metabolic process IEA --
GO:0015760 glucose-6-phosphate transport IEA --
GO:0016311 dephosphorylation IEA --
GO:0051156 glucose 6-phosphate metabolic process IEA,IBA --
genes like me logo Genes that share ontologies with G6PC3: view

No data available for SIGNOR curated interactions for G6PC3 Gene

Drugs & Compounds for G6PC3 Gene

(4) Drugs for G6PC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(1) Additional Compounds for G6PC3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with G6PC3: view

Transcripts for G6PC3 Gene

Unigene Clusters for G6PC3 Gene

Glucose 6 phosphatase, catalytic, 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e
SP1: - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for G6PC3 Gene

GeneLoc Exon Structure for
G6PC3
ECgene alternative splicing isoforms for
G6PC3

Expression for G6PC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for G6PC3 Gene

Protein differential expression in normal tissues from HIPED for G6PC3 Gene

This gene is overexpressed in Placenta (21.8), Fetal gut (9.6), Testis (8.7), Retina (7.6), and Fetal testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for G6PC3 Gene



Protein tissue co-expression partners for G6PC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of G6PC3 Gene:

G6PC3

SOURCE GeneReport for Unigene cluster for G6PC3 Gene:

Hs.294005

mRNA Expression by UniProt/SwissProt for G6PC3 Gene:

Q9BUM1-G6PC3_HUMAN
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 peripheral blood lymphocytes.

Evidence on tissue expression from TISSUES for G6PC3 Gene

  • Skin(4.4)
  • Eye(4.3)
  • Nervous system(2.7)
  • Kidney(2.5)
  • Bone marrow(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • mouth
  • nose
  • skull
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with G6PC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for G6PC3 Gene

Orthologs for G6PC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia G6PC3 33 34
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia G6PC3 33 34
  • 91.43 (n)
dog
(Canis familiaris)
Mammalia G6PC3 33 34
  • 90.37 (n)
mouse
(Mus musculus)
Mammalia G6pc3 33 16 34
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia G6pc3 33
  • 84.59 (n)
oppossum
(Monodelphis domestica)
Mammalia G6PC3 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia G6PC3 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves G6PC3 33 34
  • 60.32 (n)
lizard
(Anolis carolinensis)
Reptilia G6PC3 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pc3.1 33
  • 54.38 (n)
Str.15098 33
zebrafish
(Danio rerio)
Actinopterygii g6pc3 33 34
  • 52.91 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2593 33
fruit fly
(Drosophila melanogaster)
Insecta CG15400 34
  • 18 (a)
OneToMany
Species where no ortholog for G6PC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for G6PC3 Gene

ENSEMBL:
Gene Tree for G6PC3 (if available)
TreeFam:
Gene Tree for G6PC3 (if available)

Paralogs for G6PC3 Gene

Paralogs for G6PC3 Gene

(2) SIMAP similar genes for G6PC3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with G6PC3: view

Variants for G6PC3 Gene

Sequence variations from dbSNP and Humsavar for G6PC3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1046770 benign, Severe congenital neutropenia 44,076,194(+) G/A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1052680090 uncertain-significance, Severe congenital neutropenia 44,070,775(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs113416399 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Severe congenital neutropenia 44,076,045(+) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs118203968 pathogenic, Severe congenital neutropenia 4, autosomal recessive, Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] 44,075,760(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs118203969 pathogenic, Severe congenital neutropenia 4, autosomal recessive, Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541] 44,075,328(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for G6PC3 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv833454 CNV loss 17160897

Variation tolerance for G6PC3 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for G6PC3 Gene

Human Gene Mutation Database (HGMD)
G6PC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
G6PC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC3 Gene

Disorders for G6PC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for G6PC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital, 4, autosomal recessive
  • scn4
neutropenia
  • leukopenia
g6pc3 deficiency
  • ubiquitous glucose-6-phosphatase deficiency
lymphopenia
  • lymphocytopenia
severe congenital neutropenia
  • kostmann disease
- elite association - COSMIC cancer census association via MalaCards
Search G6PC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PC3_HUMAN
  • Dursun syndrome (DURSS) [MIM:612541]: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. {ECO:0000269 PubMed:20799326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:19118303, ECO:0000269 PubMed:20220065, ECO:0000269 PubMed:20616219, ECO:0000269 PubMed:22050868, ECO:0000269 PubMed:22469094, ECO:0000269 PubMed:23018568, ECO:0000269 PubMed:23298686, ECO:0000269 PubMed:24105461, ECO:0000269 PubMed:24750412, ECO:0000269 PubMed:25492228}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for G6PC3

genes like me logo Genes that share disorders with G6PC3: view

No data available for Genatlas for G6PC3 Gene

Publications for G6PC3 Gene

  1. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. (PMID: 12370122) Martin CC … O'Brien RM (Journal of molecular endocrinology 2002) 2 3 4 22 58
  2. Identification and characterisation of a new human glucose-6-phosphatase isoform. (PMID: 12965222) Guionie O … Burchell A (FEBS letters 2003) 2 3 4 58
  3. Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency. (PMID: 25492228) Lin SR … Chou JY (Molecular genetics and metabolism 2015) 3 4 58
  4. G6PC3 mutations cause non-syndromic severe congenital neutropenia. (PMID: 23298686) Banka S … Newman WG (Molecular genetics and metabolism 2013) 3 4 58
  5. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. (PMID: 24105461) Alangari AA … Alkuraya FS (Journal of clinical immunology 2013) 3 4 58

Products for G6PC3 Gene

Sources for G6PC3 Gene

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