FAM20A (FAM20A golgi associated secretory pathway pseudokinase)

2014-11-01  

Identity

HGNC
FAM20A
LOCATION
17q24.2
LOCUSID
54757
ALIAS
AI1G,AIGFS,FP2747
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54757
MIM: 611062
HGNC: 23015
Ensembl: ENSG00000108950

Variants:

dbSNP: 54757
ClinVar: 54757
TCGA: ENSG00000108950
COSMIC: FAM20A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108950ENST00000590074K7EIV7
ENSG00000108950ENST00000590873K7EQL5
ENSG00000108950ENST00000592554Q96MK3
ENSG00000108950ENST00000592554L8B8N7
ENSG00000108950ENST00000619787Q71MG5

Expression (GTEx)

0
10
20
30
40
50
60
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
215493432011Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.56
215493432011Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.56
257896062015A secretory kinase complex regulates extracellular protein phosphorylation.41
234348542012Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.32
234686442013FAM20A mutations can cause enamel-renal syndrome (ERS).29
219900452012Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.22
231855302012Altered gene expression pattern in peripheral blood mononuclear cells in patients with acute myocardial infarction.19
241964882014FAM20A mutations associated with enamel renal syndrome.15
242592792014Enamel-renal-gingival syndrome and FAM20A mutations.12
236979772013Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.5

Citation

Dessen P

FAM20A (FAM20A golgi associated secretory pathway pseudokinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63128/fam20a