FRMD3 (FERM domain containing 3)

2007-08-01  

Identity

HGNC
FRMD3
LOCATION
9q21.32
LOCUSID
257019
ALIAS
4.1O,EPB41L4O,EPB41LO,P410
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 257019
MIM: 607619
HGNC: 24125
Ensembl: ENSG00000172159

Variants:

dbSNP: 257019
ClinVar: 257019
TCGA: ENSG00000172159
COSMIC: FRMD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172159ENST00000304195A2A2Y4
ENSG00000172159ENST00000328788A2A2Y4
ENSG00000172159ENST00000376434A2A2Y4
ENSG00000172159ENST00000376438A2A2Y4
ENSG00000172159ENST00000431299Q5JV61
ENSG00000172159ENST00000621208A2A2Y4

Expression (GTEx)

0
5
10
15
20
25
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
parathyroid 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
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
192521342009Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.110
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
216981412011Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans.42
204604252010Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.22
269099422016Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population.1
172600172007FRMD3, a novel putative tumour suppressor in NSCLC.0
234349342013From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.0

Citation

Dessen P

FRMD3 (FERM domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/gene/47685/frmd3