SYNJ2 (synaptojanin 2)

2006-10-01  

Identity

HGNC
SYNJ2
LOCATION
6q25.3
LOCUSID
8871
ALIAS
INPP5H
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8871
MIM: 609410
HGNC: 11504
Ensembl: ENSG00000078269

Variants:

dbSNP: 8871
ClinVar: 8871
TCGA: ENSG00000078269
COSMIC: SYNJ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078269ENST00000355585O15056
ENSG00000078269ENST00000367113H7BY56
ENSG00000078269ENST00000367122E7ER60
ENSG00000078269ENST00000449320Q5TA15
ENSG00000078269ENST00000485863H0YEV8
ENSG00000078269ENST00000638626A0A1W2PR85
ENSG00000078269ENST00000640338O15056

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

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

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
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
155486942004Role of synaptojanin 2 in glioma cell migration and invasion.58
256059732015Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.14
161025782005Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.13
240774332014Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size.13
220452962012Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.9
266162302016SYNJ2 variant rs9365723 is associated with colorectal cancer risk in Chinese Han population.4
145621162003Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells.3
222136872012Longevity candidate genes and their association with personality traits in the elderly.3
230761362012Regulation of synaptojanin 2 5'-phosphatase activity by Src.3

Citation

Dessen P

SYNJ2 (synaptojanin 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43522/synj2