FRMD4B (FERM domain containing 4B)

2014-11-01  

Identity

HGNC
FRMD4B
LOCATION
3p14.1
LOCUSID
23150
ALIAS
6030440G05Rik,GRSP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23150
MIM: 617467
HGNC: 24886
Ensembl: ENSG00000114541

Variants:

dbSNP: 23150
ClinVar: 23150
TCGA: ENSG00000114541
COSMIC: FRMD4B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114541ENST00000398540Q9Y2L6
ENSG00000114541ENST00000459638C9JA15
ENSG00000114541ENST00000460709C9JAW0
ENSG00000114541ENST00000462512C9JYK2
ENSG00000114541ENST00000473029C9J6Q2
ENSG00000114541ENST00000478263E9PGA7
ENSG00000114541ENST00000489817C9JBX2
ENSG00000114541ENST00000493880H7C550
ENSG00000114541ENST00000497880C9J7M5

Expression (GTEx)

0
5
10
15
20
25
30
35
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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
201244412010Common variants in HSPB7 and FRMD4B associated with advanced heart failure.52
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
207188132010Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.1
207188132010Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.1

Citation

Dessen P

FRMD4B (FERM domain containing 4B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63593/frmd4b