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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 resu... See more...
Aliases for G6PC3 Gene
Aliases for G6PC3 Gene
External Ids for G6PC3 Gene
- HGNC: 24861
- Entrez Gene: 92579
- Ensembl: ENSG00000141349
- OMIM: 611045
- UniProtKB: Q9BUM1
Previous GeneCards Identifiers for G6PC3 Gene
- GC17P042623
- GC17P039503
- GC17P042148
- GC17P037912
Summaries 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 Glucose metabolism and Hexose transport. Gene Ontology (GO) annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for G6PC3 Gene
- HGNC(24861)
- Entrez Gene(92579)
- Ensembl(ENSG00000141349)
- OMIM(611045)
- UniProtKB(Q9BUM1)
- Open Targets Platform(ENSG00000141349)
- Monarch Initiative
- Search for G6PC3 at DataMed
- Search for G6PC3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for G6PC3 Gene
Genomics for G6PC3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for G6PC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around G6PC3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for G6PC3
- Top Transcription factor binding sites by QIAGEN in the G6PC3 gene promoter:
-
- MyoD
- PPAR-gamma1
- PPAR-gamma2
- SREBP-1a
- SREBP-1b
- SREBP-1c
- TBP
- TFIID
- Zic1
Genomic Locations for G6PC3 Gene
Genomic Locations for G6PC3 Gene
- chr17:44,070,700-44,076,344
- (GRCh38/hg38)
- Size:
- 5,645 bases
- Orientation:
- Plus strand
- chr17:42,148,098-42,153,712
- (GRCh37/hg19)
- Size:
- 5,615 bases
- Orientation:
- Plus strand
Genomic View for G6PC3 Gene
Genes around G6PC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.31 by HGNC
- 17q21.31 by Entrez Gene
- 17q21.31 by Ensembl
G6PC3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q8WU15
Protein attributes for G6PC3 Gene
- Size:
- 346 amino acids
- Molecular mass:
- 38735 Da
- Quaternary structure:
- No Data Available
Protein Expression for G6PC3 Gene
Selected DME Specific Peptides for G6PC3 Gene
- Q9BUM1:
-
- VPMERELSFYGLT
- AHFPHQV
- TLWPCLV
Post-translational modifications for G6PC3 Gene
Other Protein References for G6PC3 Gene
Antibody Products
- LifeSpan BioSciences SCN4 / G6PC3 Antibody
- Creative Diagnostics Anti-G6PC3 monoclonal antibody
- Novus Biologicals Antibodies for G6PC3
- Invitrogen Antibodies for G6PC3 (AFLGC-G6PC3)
- antibodies-online: Show 24 available G6PC3 Antibodies ranked by validation data
-
Biorbyt antibodies for G6PC3
Protein Products
-
OriGene Purified Proteins for G6PC3
- Search Origene for MassSpec and Protein Over-expression Lysates for G6PC3
- Origene Custom Protein Services for G6PC3
- antibodies-online: Show 3 available G6PC3 Proteins ranked by validation data
- Compare Top G6PC3 Proteins
-
Quality Products:
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
Protein Domains for G6PC3 Gene
- InterPro:
- Blocks:
-
- PA-phosphatase related phosphoesterase
- ProtoNet:
Suggested Antigen Peptide Sequences for G6PC3 Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitous glucose-6-phosphatase catalytic subunit-related protein (G6PC3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BUM1- Family:
-
- Belongs to the glucose-6-phosphatase family.
Function for G6PC3 Gene
Molecular function for G6PC3 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9; Evidence={ECO:0000269|PubMed:12965222};.
- 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 EnzymeRegulation:
- Inhibited by vanadate.
Enzyme Numbers (IUBMB) for G6PC3 Gene
Phenotypes From GWAS Catalog for G6PC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004346 | glucose-6-phosphatase activity | IBA,IMP | 25492228 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for G6PC3 Gene
- MGI mutant phenotypes for G6PC3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for G6PC3:
Animal Model Products
-
Taconic Biosciences Mouse Models for G6PC3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for G6PC3 - Select products 50% OFF >
- * G6PC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for G6PC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for G6PC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for G6PC3
miRNA for G6PC3 Gene
- miRTarBase miRNAs that target G6PC3
-
- hsa-miR-122-5p (MIRT003103)
- hsa-miR-128-3p (MIRT022062)
- hsa-miR-652-3p (MIRT039531)
- hsa-miR-1226-5p (MIRT761377)
- hsa-miR-1237-5p (MIRT761492)
- hsa-miR-202-5p (MIRT763689)
- hsa-miR-2861 (MIRT764343)
- hsa-miR-3126-5p (MIRT764851)
- hsa-miR-3675-5p (MIRT766700)
- hsa-miR-4419a (MIRT768740)
- hsa-miR-4468 (MIRT769443)
- hsa-miR-4488 (MIRT769696)
- hsa-miR-4510 (MIRT769881)
- hsa-miR-4697-5p (MIRT771272)
- hsa-miR-6127 (MIRT775800)
- hsa-miR-6129 (MIRT775820)
- hsa-miR-6130 (MIRT775879)
- hsa-miR-6133 (MIRT775911)
- hsa-miR-6165 (MIRT775996)
- hsa-miR-6734-5p (MIRT778020)
- hsa-miR-6834-5p (MIRT780027)
- hsa-miR-6846-5p (MIRT780223)
- hsa-miR-6848-5p (MIRT780232)
- hsa-miR-6875-5p (MIRT780740)
- hsa-miR-6890-5p (MIRT781154)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for G6PC3
- Browse OriGene Inhibitory RNA Products For G6PC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC3
Clone Products
- Applied Biological Materials (abm): Clones for G6PC3 - Select products 50% OFF >
- * G6PC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for G6PC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for G6PC3
Cell Line Products
-
Horizon Cell Lines for G6PC3
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| endoplasmic reticulum | 4 |
| mitochondrion | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA,IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for G6PC3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Galactose metabolism | ||
| 2 | Glucose metabolism |
.35
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Hexose transport |
.85
|
|
| 5 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for G6PC3 Gene
1 BioSystems pathway for G6PC3 Gene
6 Reactome pathways for G6PC3 Gene
12 KEGG pathways for G6PC3 Gene
UniProtKB/Swiss-Prot Q9BUM1-G6PC3_HUMAN
- Pathway: Carbohydrate biosynthesis; gluconeogenesis.
Interacting Proteins for G6PC3 Gene
GPS-Prot Interaction Network for G6PC3
| 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 | 21873635 |
No data available for SIGNOR curated interactions for G6PC3 Gene
Drugs & Compounds for G6PC3 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
Transcripts for G6PC3 Gene
mRNA/cDNA for G6PC3 Gene
- 6 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000269097 1533 nts (view in UCSC)
- ENST00000585361 1572 nts (view in UCSC)
- ENST00000585962 3027 nts (view in UCSC)
- ENST00000588558 1718 nts (view in UCSC)
- ENST00000590253 844 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for G6PC3 - Select products 50% OFF >
- * G6PC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for G6PC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for G6PC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for G6PC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for G6PC3
- Browse OriGene Inhibitory RNA Products For G6PC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for G6PC3
Clone Products
- Applied Biological Materials (abm): Clones for G6PC3 - Select products 50% OFF >
- * G6PC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for G6PC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for G6PC3
| 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
Expression 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, MaxQB, and MOPED for G6PC3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for G6PC3
SOURCE GeneReport for Unigene cluster for G6PC3 Gene:
Hs.294005mRNA 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(4.5)
- Eye(4.3)
- Nervous system(3.3)
- Kidney(3)
- Muscle(2.8)
- Intestine(2.5)
- Bone marrow(2.4)
- Pancreas(2.3)
- Liver(2.3)
- Blood(2.3)
- Thyroid gland(2.2)
- Heart(2.2)
- Spleen(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
Primer Products
-
OriGene qPCR primer pairs for G6PC3
-
OriGene qPCR primer pairs and template standards for G6PC3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | G6PC3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | G6pc3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | G6pc3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | G6PC3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | G6PC3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | G6PC3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | G6PC3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | g6pc3.1 30 |
|
||
| Str.15098 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | g6pc3 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2593 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15400 31 |
|
OneToMany |
- Species where no ortholog for G6PC3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for G6PC3: view image
Paralogs for G6PC3 Gene
Variants for G6PC3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for G6PC3 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639944 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,940(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 647728 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,348(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 651897 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,075,031(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 652746 | Uncertain Significance: Severe congenital neutropenia 4, autosomal recessive | 44,070,996(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 653016 | Pathogenic: Severe congenital neutropenia 4, autosomal recessive | 44,075,339(+) | C/T | MISSENSE_VARIANT,NONSENSE,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv833454 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC3 Gene
Disorders for G6PC3 Gene
(19) MalaCards diseases for G6PC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neutropenia, severe congenital, 4, autosomal recessive |
|
|
| neutropenia |
|
|
| severe congenital neutropenia |
|
|
| lymphopenia |
|
|
| g6pc3 deficiency |
|
|
Search G6PC3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
G6PC3_HUMAN- 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.
- 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.
Additional Disease Information for G6PC3
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for G6PC3 Gene
Publications for G6PC3 Gene
- 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 23
- Identification and characterisation of a new human glucose-6-phosphatase isoform. (PMID: 12965222) Guionie O … Burchell A (FEBS letters 2003) 2 3 4
- 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
- G6PC3 mutations cause non-syndromic severe congenital neutropenia. (PMID: 23298686) Banka S … Newman WG (Molecular genetics and metabolism 2013) 3 4
- 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
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Products for G6PC3 Gene
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