Information on G6PC3
Basic details
Alt. symbols: UGRP
Approved name: glucose-6-phosphatase catalytic subunit 3
Alt. names: glucose 6 phosphatase, catalytic, 3
Location: 17q21.31: 44070620 - 44082151 (+)
Gene type: protein_coding, 20 transcripts.
Scores: LoFtool: 0.726000 | pLI: 0.00001075 | LOEUF: 1.031
Normal function
Dysfunction and disease
Neutropenia, severe congenital 4, autosomal recessive [MIM:612541] | Dursun syndrome [MIM:612541] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCN4 |
Severe congenital neutropenia 4 | AR |
612541 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of G6PC3
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 208 | ENST00000593115.2 | nonsense_mediated_decay | No | 710 | XM_054317801 | ||||
| 201 | ENST00000269097.9 | 1 | CCDS11476 | Select | protein_coding | 6 | Yes | 1533 | NM_138387 |
| 205 | ENST00000590253.3 | protein_coding | No | 844 | NM_001319945 | ||||
| 209 | ENST00000696383.1 | protein_coding | No | NM_001384165,NM_001384166,NM_001384167,NM_001384168 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in G6PC3
| ID | Year | Title | Journal | PMID | Variants |
|---|