SPINT2 (serine peptidase inhibitor, Kunitz type 2)

2007-02-01  

Identity

HGNC
SPINT2
LOCATION
19q13.2
LOCUSID
10653
ALIAS
DIAR3,HAI-2,HAI2,Kop,PB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10653
MIM: 605124
HGNC: 11247
Ensembl: ENSG00000167642

Variants:

dbSNP: 10653
ClinVar: 10653
TCGA: ENSG00000167642
COSMIC: SPINT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167642ENST00000301244O43291
ENSG00000167642ENST00000454580O43291
ENSG00000167642ENST00000454580A0A140VJV6
ENSG00000167642ENST00000587090K7EM91
ENSG00000167642ENST00000587334K7ES27
ENSG00000167642ENST00000587516K7EKQ0
ENSG00000167642ENST00000590510K7EJS4
ENSG00000167642ENST00000590738K7ESI5
ENSG00000167642ENST00000592007K7EKC8

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
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
Signal TransductionREACTOMER-HSA-162582
Signaling by MST1REACTOMER-HSA-8852405
Signaling by METREACTOMER-HSA-6806834
MET Receptor ActivationREACTOMER-HSA-6806942

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
147344712004The hepatocyte growth factor regulatory factors in human breast cancer.56
187137502008Potent inhibition and global co-localization implicate the transmembrane Kunitz-type serine protease inhibitor hepatocyte growth factor activator inhibitor-2 in the regulation of epithelial matriptase activity.47
159302772005Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma.42
191852812009Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.33
190471762008An epigenetic genome-wide screen identifies SPINT2 as a novel tumor suppressor gene in pediatric medulloblastoma.31
241212742014HAI-2 suppresses the invasive growth and metastasis of prostate cancer through regulation of matriptase.25
110132442000Hepatocyte growth factor activator inhibitor type 1 is a specific cell surface binding protein of hepatocyte growth factor activator (HGFA) and regulates HGFA activity in the pericellular microenvironment.24
241423402014Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.24
200633162010Epigenetic inactivation and tumor suppressor activity of HAI-2/SPINT2 in gastric cancer.20
207151092011The role of hepatocyte growth factor activator inhibitor (HAI)-1 and HAI-2 in endometrial cancer.18

Citation

Dessen P

SPINT2 (serine peptidase inhibitor, Kunitz type 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43960/spint2