FAM3A (FAM3 metabolism regulating signaling molecule A)

2014-11-01  

Identity

HGNC
FAM3A
LOCATION
Xq28
LOCUSID
60343
ALIAS
2.19,DLD,DXS560S,XAP-7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 60343
MIM: 300492
HGNC: 13749
Ensembl: ENSG00000071889

Variants:

dbSNP: 60343
ClinVar: 60343
TCGA: ENSG00000071889
COSMIC: FAM3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071889ENST00000322269D3DWX8
ENSG00000071889ENST00000359889P98173
ENSG00000071889ENST00000369641Q5HY75
ENSG00000071889ENST00000369643P98173
ENSG00000071889ENST00000393572P98173
ENSG00000071889ENST00000412894F8WB47
ENSG00000071889ENST00000416319F8WD39
ENSG00000071889ENST00000419205P98173
ENSG00000071889ENST00000421517Q9BU27
ENSG00000071889ENST00000426266A6QRH7
ENSG00000071889ENST00000433619F8WCK6
ENSG00000071889ENST00000434658Q9BU27
ENSG00000071889ENST00000440318F8WEM7
ENSG00000071889ENST00000442929A6QRH8
ENSG00000071889ENST00000447601P98173
ENSG00000071889ENST00000449971Q9BU27
ENSG00000071889ENST00000457212F8WEW8
ENSG00000071889ENST00000621967Q9BU27

Expression (GTEx)

0
50
100
150
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
121607272002Cloning, expression, and initial characterization of a novel cytokine-like gene family.48
248067532014FAM3A activates PI3K p110α/Akt signaling to ameliorate hepatic gluconeogenesis and lipogenesis.28
182121072008Drosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity.10
235625542013FAM3A is a target gene of peroxisome proliferator-activated receptor gamma.9
295327742018Role of Family with Sequence Similarity 3A in High Glucose-induced Oxidative Damage of Human Umbilical Vein Endothelial Cells.1
310004202019Endothelial FAM3A positively regulates post-ischaemic angiogenesis.1
276880712016Transcriptional regulation analysis of FAM3A gene and its effect on adipocyte differentiation.0
319108172020Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.0

Citation

Dessen P

FAM3A (FAM3 metabolism regulating signaling molecule A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63192/fam3a