RPH3A (rabphilin 3A)

2007-12-01  

Identity

HGNC
RPH3A
LOCATION
12q24.13
LOCUSID
22895
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22895
MIM: 612159
HGNC: 17056
Ensembl: ENSG00000089169

Variants:

dbSNP: 22895
ClinVar: 22895
TCGA: ENSG00000089169
COSMIC: RPH3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089169ENST00000389385Q9Y2J0
ENSG00000089169ENST00000415485Q9Y2J0
ENSG00000089169ENST00000543106Q9Y2J0
ENSG00000089169ENST00000546426F8W045
ENSG00000089169ENST00000546703F8VNU2
ENSG00000089169ENST00000547099F8VRJ1
ENSG00000089169ENST00000547686F8VZS2
ENSG00000089169ENST00000547728F8VVK8
ENSG00000089169ENST00000547840F8VNW3
ENSG00000089169ENST00000548197F8VR41
ENSG00000089169ENST00000548866F8VP47
ENSG00000089169ENST00000549736F8W116
ENSG00000089169ENST00000549769F8W131
ENSG00000089169ENST00000550901F8VTR7
ENSG00000089169ENST00000551052Q9Y2J0
ENSG00000089169ENST00000551198F8W1A3
ENSG00000089169ENST00000551593F8W1K7
ENSG00000089169ENST00000551748F8VZS2
ENSG00000089169ENST00000552667F8VV58
ENSG00000089169ENST00000553114F8VNP7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
152072662004Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease.25
178776352007Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease.24
243027622013Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.18
129371302003Glomerular podocytes possess the synaptic vesicle molecule Rab3A and its specific effector rabphilin-3a.9
242008172014Decreased rabphilin 3A immunoreactivity in Alzheimer's disease is associated with Aβ burden.5
259194602015Rabphilin-3A as a Targeted Autoantigen in Lymphocytic Infundibulo-neurohypophysitis.4
288239332017Rabphilin 3A: A novel target for the treatment of levodopa-induced dyskinesias.4
305991412019Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis.1

Citation

Dessen P

RPH3A (rabphilin 3A)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49943/rph3a-(rabphilin-3a)