SERPINB8 (serpin family B member 8)

2009-06-01  

Identity

HGNC
SERPINB8
LOCATION
18q22.1
LOCUSID
5271
ALIAS
C18orf53,CAP2,PI-8,PI8,PSS5

Other Information

Locus ID:

NCBI: 5271
MIM: 601697
HGNC: 8952
Ensembl: ENSG00000166401

Variants:

dbSNP: 5271
ClinVar: 5271
TCGA: ENSG00000166401
COSMIC: SERPINB8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166401ENST00000295211H7BXK7
ENSG00000166401ENST00000353706P50452
ENSG00000166401ENST00000353706A0A024R2B1
ENSG00000166401ENST00000397985P50452
ENSG00000166401ENST00000397985A0A024R2B1
ENSG00000166401ENST00000397988P50452
ENSG00000166401ENST00000441827C9JVA8
ENSG00000166401ENST00000448851C9JTJ8
ENSG00000166401ENST00000493661A0A087WTX6
ENSG00000166401ENST00000542677P50452
ENSG00000166401ENST00000636430A0A1B0GU38

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
HemostasisREACTOMER-HSA-109582
Dissolution of Fibrin ClotREACTOMER-HSA-75205

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
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
209531872010Association analyses identify six new psoriasis susceptibility loci in the Chinese population.84
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
164934852006The serpin proteinase inhibitor 8: an endogenous furin inhibitor released from human platelets.9
274766512016Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.3
191888652009Serine protease inhibitor 8 is a novel immunohistochemical marker for neuroendocrine tumors of the pancreas.0

Citation

Dessen P

SERPINB8 (serpin family B member 8)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50950/serpinb8