Property Summary

NCBI Gene PubMed Count 35
Grant Count 10
Funding $1,925,721.55
PubMed Score 36.02
PubTator Score 78.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
Rheumatoid Arthritis -1.400 0.016
ependymoma 1.400 0.000
osteosarcoma 1.473 0.000
astrocytoma 1.700 0.001
glioblastoma 1.500 0.000
atypical teratoid / rhabdoid tumor 1.900 0.000
medulloblastoma 1.200 0.000
medulloblastoma, large-cell 1.600 0.000
lung cancer 1.500 0.000
pediatric high grade glioma 1.100 0.000
pilocytic astrocytoma 1.300 0.000
subependymal giant cell astrocytoma 1.499 0.021
ovarian cancer 1.100 0.000

Gene RIF (29)

PMID Text
26479985 Multilineage involvement of immune system occurs in G6PC3 deficiency in addition to the previously described neutropenia and multiple abnormalities.
25492228 functional characterization of 16 of the 19 known missense mutations in severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta deficiency;14 missense mutations completely abolish G6Pase-beta activity while the p.S139I and p.R189Q mutations retain 49% and 45%, respectively of wild type activity
25491320 Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity.
25391451 G6PC3 defects should be considered in any case of congenital, unexplained neutropenia regardless of the clinical phenotype.
25284454 G6PC3 mutation is associated with severe congenital neutropenia.
24796372 A role for G6PC3 in testicular differentiation and formation.
24322501 Glucose 6 phosphatase catalytic subunit-3 deficiency due to mutation is a heterogenous disorder characterized by severe congenital neutropenia.
24105461 Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects.
23758768 review of clinical, molecular and genetic aspects of G6PC3 deficiency; loss of function in missense G6PC3 mutations likely results from decreased enzyme stability; the condition can be diagnosed by sequencing G6PC3 gene; a number of G6PC3 ounder mutations are known in various populations and possible genotype-phenotype relationship also exists
23454784 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations have been identified in Iranian patients with severe congenital neutropenia.
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AA Sequence

MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLI      1 - 70
FKWFLFGDRPFWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSR     71 - 140
WVRVMPSLAYCTFLLAVGLSRIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGT    141 - 210
SLIYWTLFTLGLDLSWSISLAFKWCERPEWIHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGN    211 - 280
GQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLWPCLVLALVPWAVHMFSAQEAPPIHSS        281 - 346
//

Text Mined References (39)

PMID Year Title
26479985 2015 G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
25492228 2015 Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-? deficiency.
25491320 2014 Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
25391451 2014 Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
25284454 2015 Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
24796372 2014 Testicular failure in a patient with G6PC3 deficiency.
24750412 2015 A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.
24322501 2014 Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency.
24244560 2013 A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.
24105461 2013 A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
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