Identity
HGNC
LOCATION
4q21.1
LOCUSID
ALIAS
APXL3,MSTP013,SHRM,ShrmL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57619
MIM: 604570
HGNC: 30422
Ensembl: ENSG00000138771
Variants:
dbSNP: 57619
ClinVar: 57619
TCGA: ENSG00000138771
COSMIC: SHROOM3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138771 | ENST00000296043 | Q8TF72 |
| ENSG00000138771 | ENST00000644244 | A0A2R8Y7T7 |
| ENSG00000138771 | ENST00000646790 | A0A2R8Y5P9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32265040 | 2020 | Loci associated with genomic damage levels in chronic kidney disease patients and controls. | 3 |
| 32621286 | 2020 | A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. | 7 |
| 32265040 | 2020 | Loci associated with genomic damage levels in chronic kidney disease patients and controls. | 3 |
| 32621286 | 2020 | A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. | 7 |
| 29423651 | 2018 | Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. | 11 |
| 29476007 | 2018 | Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD. | 25 |
| 30341149 | 2018 | SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts. | 12 |
| 29423651 | 2018 | Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort. | 11 |
| 29476007 | 2018 | Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD. | 25 |
| 30341149 | 2018 | SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts. | 12 |
| 25273069 | 2015 | Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity. | 44 |
| 25437874 | 2015 | Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis. | 49 |
| 25805808 | 2015 | Loss-of-function de novo mutations play an important role in severe human neural tube defects. | 36 |
| 25273069 | 2015 | Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity. | 44 |
| 25437874 | 2015 | Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis. | 49 |
Citation
Dessen P
SHROOM3 (shroom family member 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73236/shroom3-(shroom-family-member-3)
