ITSN2 (intersectin 2)

2006-10-01  

Identity

HGNC
ITSN2
LOCATION
2p23.3
LOCUSID
50618
ALIAS
PRO2015,SH3D1B,SH3P18,SWA,SWAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50618
MIM: 604464
HGNC: 6184
Ensembl: ENSG00000198399

Variants:

dbSNP: 50618
ClinVar: 50618
TCGA: ENSG00000198399
COSMIC: ITSN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198399ENST00000355123Q9NZM3
ENSG00000198399ENST00000361999Q9NZM3
ENSG00000198399ENST00000406921Q9NZM3
ENSG00000198399ENST00000412011E7EPJ2
ENSG00000198399ENST00000416160H7BZD4
ENSG00000198399ENST00000427234H7C0L8
ENSG00000198399ENST00000443927F8W719
ENSG00000198399ENST00000449392H7C3E2
ENSG00000198399ENST00000622089A0A087WVF7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
281616322017Mammalian verprolin CR16 acts as a modulator of ITSN scaffold proteins association with actin.1
281616322017Mammalian verprolin CR16 acts as a modulator of ITSN scaffold proteins association with actin.1
266333572015ITSN2L Interacts with and Negatively Regulates RABEP1.3
266333572015ITSN2L Interacts with and Negatively Regulates RABEP1.3
232744952013Crystal structure of human Intersectin-2L C2 domain.1
239362262013Adaptor proteins intersectin 1 and 2 bind similar proline-rich ligands but are differentially recognized by SH2 domain-containing proteins.7
232744952013Crystal structure of human Intersectin-2L C2 domain.1
239362262013Adaptor proteins intersectin 1 and 2 bind similar proline-rich ligands but are differentially recognized by SH2 domain-containing proteins.7
224497062012Human intersectin 2 (ITSN2) binds to Eps8 protein and enhances its degradation.6
224497062012Human intersectin 2 (ITSN2) binds to Eps8 protein and enhances its degradation.6
199110112010Mutation of ARHGAP9 in patients with coronary spastic angina.0
199110112010Mutation of ARHGAP9 in patients with coronary spastic angina.0
196227532009Intersectin-2L regulates caveola endocytosis secondary to Cdc42-mediated actin polymerization.24
196227532009Intersectin-2L regulates caveola endocytosis secondary to Cdc42-mediated actin polymerization.24
173900672007Expression analysis of human intersectin 2 gene (ITSN2) minor splice variants showing differential expression in normal human brain.4

Citation

Dessen P

ITSN2 (intersectin 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43330/teaching-explorer/meetings/welcome