FGD6 (FYVE, RhoGEF and PH domain containing 6)

2014-11-01  

Identity

HGNC
FGD6
LOCATION
12q22
LOCUSID
55785
ALIAS
ZFYVE24
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55785
MIM: 613520
HGNC: 21740
Ensembl: ENSG00000180263

Variants:

dbSNP: 55785
ClinVar: 55785
TCGA: ENSG00000180263
COSMIC: FGD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180263ENST00000343958Q6ZV73
ENSG00000180263ENST00000451107F8VWT6
ENSG00000180263ENST00000546711Q6ZV73
ENSG00000180263ENST00000548069H0YI21
ENSG00000180263ENST00000549499F8VY01
ENSG00000180263ENST00000551521F8VQX5

Expression (GTEx)

0
5
10
15
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
270891772016A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.14

Citation

Dessen P

FGD6 (FYVE, RhoGEF and PH domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63369/fgd6