SPINK2 (serine peptidase inhibitor Kazal type 2)

2009-11-01  

Identity

HGNC
SPINK2
LOCATION
4q12
LOCUSID
6691
ALIAS
HUSI-II,SPGF29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6691
MIM: 605753
HGNC: 11245
Ensembl: ENSG00000128040

Variants:

dbSNP: 6691
ClinVar: 6691
TCGA: ENSG00000128040
COSMIC: SPINK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128040ENST00000248701P20155
ENSG00000128040ENST00000248701A0A024RD95
ENSG00000128040ENST00000504762D6RC51
ENSG00000128040ENST00000506738D6RI10
ENSG00000128040ENST00000616980A0A087WU11
ENSG00000128040ENST00000618802A0A087WTA9
ENSG00000128040ENST00000631082A0A0D9SFZ8

Expression (GTEx)

0
100
200
300
400
500
600
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
285549432017SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.17
173331662007The SPINK gene family and celiac disease susceptibility.13
194220582009Identification of trypsin-inhibitory site and structure determination of human SPINK2 serine proteinase inhibitor.8
318862332019Tazarotene-Induced Gene 1 (TIG1) Interacts with Serine Protease Inhibitor Kazal-Type 2 (SPINK2) to Inhibit Cellular Invasion of Testicular Carcinoma Cells.0

Citation

Dessen P

SPINK2 (serine peptidase inhibitor Kazal type 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51190/spink2