PPFIA3 (PTPRF interacting protein alpha 3)

2007-04-01  

Identity

HGNC
PPFIA3
LOCATION
19q13.33
LOCUSID
8541
ALIAS
LPNA3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8541
MIM: 603144
HGNC: 9247
Ensembl: ENSG00000177380

Variants:

dbSNP: 8541
ClinVar: 8541
TCGA: ENSG00000177380
COSMIC: PPFIA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177380ENST00000334186O75145
ENSG00000177380ENST00000602351O75145
ENSG00000177380ENST00000602509R4GNF1
ENSG00000177380ENST00000602655R4GN36
ENSG00000177380ENST00000602848A0A0C4DGR7
ENSG00000177380ENST00000602897A0A0C4DGR8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642

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
381817352024A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.2
381817352024A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.2
271438122016Detection of OSR2, VAV3, and PPFIA3 Methylation in the Serum of Patients with Gastric Cancer.12
271438122016Detection of OSR2, VAV3, and PPFIA3 Methylation in the Serum of Patients with Gastric Cancer.12

Citation

Dessen P

PPFIA3 (PTPRF interacting protein alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47056/ppfia3