RPH3AL (rabphilin 3A like (without C2 domains))

2007-02-01  

Identity

HGNC
RPH3AL
LOCATION
17p13.3
LOCUSID
9501
ALIAS
NOC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9501
MIM: 604881
HGNC: 10296
Ensembl: ENSG00000181031

Variants:

dbSNP: 9501
ClinVar: 9501
TCGA: ENSG00000181031
COSMIC: RPH3AL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181031ENST00000323434Q9UNE2
ENSG00000181031ENST00000331302Q9UNE2
ENSG00000181031ENST00000536489Q9UNE2
ENSG00000181031ENST00000570638I3L3M9
ENSG00000181031ENST00000573448I3L181
ENSG00000181031ENST00000573588I3L2W0
ENSG00000181031ENST00000573780I3L2X0
ENSG00000181031ENST00000574722I3L2I9
ENSG00000181031ENST00000574953I3L2G8
ENSG00000181031ENST00000575130I3L349
ENSG00000181031ENST00000575634I3NI49
ENSG00000181031ENST00000575736I3L1Q0
ENSG00000181031ENST00000576420I3L308
ENSG00000181031ENST00000577079I3L2N0
ENSG00000181031ENST00000618002Q9UNE2

Expression (GTEx)

0
5
10
15
20
25
30
35
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
123750172002Mutations of rabphillin-3A-like gene in colorectal cancers.5
179816102008Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.4
150035332004Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells.1
260701522015Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.1

Citation

Dessen P

RPH3AL (rabphilin 3A like (without C2 domains))

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46051/rph3al