RABEP2 (rabaptin, RAB GTPase binding effector protein 2)

2021-06-01  

Identity

HGNC
RABEP2
LOCATION
16p11.2
LOCUSID
79874
ALIAS
FRA

Other Information

Locus ID:

NCBI: 79874
MIM: 611869
HGNC: 24817
Ensembl: ENSG00000177548

Variants:

dbSNP: 79874
ClinVar: 79874
TCGA: ENSG00000177548
COSMIC: RABEP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177548ENST00000357573Q9H5N1
ENSG00000177548ENST00000358201Q9H5N1
ENSG00000177548ENST00000544477B4DHR0
ENSG00000177548ENST00000561501H3BU67
ENSG00000177548ENST00000563577H3BMR7
ENSG00000177548ENST00000566762H3BNR8
ENSG00000177548ENST00000567483H3BT64
ENSG00000177548ENST00000568703H3BNR2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
adrenal gland
nasopharynx
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
361670692022A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.2
361670692022A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.2
304553632019Carcinogenic Helicobacter pylori Strains Selectively Dysregulate the In Vivo Gastric Proteome, Which May Be Associated with Stomach Cancer Progression.16
304553632019Carcinogenic Helicobacter pylori Strains Selectively Dysregulate the In Vivo Gastric Proteome, Which May Be Associated with Stomach Cancer Progression.16
292471832017Rab-GTPase binding effector protein 2 (RABEP2) is a primed substrate for Glycogen Synthase kinase-3 (GSK3).3
292471832017Rab-GTPase binding effector protein 2 (RABEP2) is a primed substrate for Glycogen Synthase kinase-3 (GSK3).3
172050622007The role of proline-rich protein tyrosine kinase 2 in differentiation-dependent signaling in human epidermal keratinocytes.11
172543202007FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders.27
172050622007The role of proline-rich protein tyrosine kinase 2 in differentiation-dependent signaling in human epidermal keratinocytes.11
172543202007FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders.27

Citation

Dessen P

RABEP2 (rabaptin, RAB GTPase binding effector protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58220/rabep2-(rabaptin-rab-gtpase-binding-effector-protein-2)