AFTPH (aftiphilin)

2014-11-01  

Identity

HGNC
AFTPH
LOCATION
2p14
LOCUSID
54812
ALIAS
Nbla10388
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54812
HGNC: 25951
Ensembl: ENSG00000119844

Variants:

dbSNP: 54812
ClinVar: 54812
TCGA: ENSG00000119844
COSMIC: AFTPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119844ENST00000238855Q6ULP2
ENSG00000119844ENST00000238856Q6ULP2
ENSG00000119844ENST00000409183B8ZZI9
ENSG00000119844ENST00000409933Q6ULP2
ENSG00000119844ENST00000422803A0A0A0MSN6
ENSG00000119844ENST00000487769A0A0U1RR74

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
330907282020Expression profiles and prognostic significance of AFTPH in different tumors.2
330907282020Expression profiles and prognostic significance of AFTPH in different tumors.2
188152782008Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells.13
188152782008Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells.13
157580252005The aftiphilin/p200/gamma-synergin complex.38
157580252005The aftiphilin/p200/gamma-synergin complex.38

Citation

Dessen P

AFTPH (aftiphilin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60184/aftph-(aftiphilin)