SHROOM3 (shroom family member 3)

2014-11-01   Dessen P  

Identity

HGNC
SHROOM3
LOCATION
4q21.1
LOCUSID
57619
ALIAS
APXL3,MSTP013,SHRM,ShrmL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57619
MIM: 604570
HGNC: 30422
Ensembl: ENSG00000138771

Variants:

dbSNP: 57619
ClinVar: 57619
TCGA: ENSG00000138771
COSMIC: SHROOM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138771ENST00000296043Q8TF72
ENSG00000138771ENST00000644244A0A2R8Y7T7
ENSG00000138771ENST00000646790A0A2R8Y5P9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
322650402020Loci associated with genomic damage levels in chronic kidney disease patients and controls.3
326212862020A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.7
322650402020Loci associated with genomic damage levels in chronic kidney disease patients and controls.3
326212862020A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.7
294236512018Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.11
294760072018Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.25
303411492018SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts.12
294236512018Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.11
294760072018Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.25
303411492018SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts.12
252730692015Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity.44
254378742015Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis.49
258058082015Loss-of-function de novo mutations play an important role in severe human neural tube defects.36
252730692015Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity.44
254378742015Intronic 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)