SERPINB7 (serpin family B member 7)

2014-02-01  

Identity

HGNC
SERPINB7
LOCATION
18q21.33
LOCUSID
8710
ALIAS
MEGSIN,PPKN,TP55

Other Information

Locus ID:

NCBI: 8710
MIM: 603357
HGNC: 13902
Ensembl: ENSG00000166396

Variants:

dbSNP: 8710
ClinVar: 8710
TCGA: ENSG00000166396
COSMIC: SERPINB7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166396ENST00000336429O75635
ENSG00000166396ENST00000398019O75635
ENSG00000166396ENST00000425392C9JA68
ENSG00000166396ENST00000431370A0A1B0GX82
ENSG00000166396ENST00000447428C9JM00
ENSG00000166396ENST00000540675O75635
ENSG00000166396ENST00000546027O75635

Expression (GTEx)

0
50
100
150
200
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
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
242071192013Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.13
157884722005Novel serpinopathy in rat kidney and pancreas induced by overexpression of megsin.8
152132612004Family-based association study showing that immunoglobulin A nephropathy is associated with the polymorphisms 2093C and 2180T in the 3' untranslated region of the Megsin gene.7
164318862006Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy.6
164318862006Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy.6
249546592014Maternal serum serpin B7 is associated with early spontaneous preterm birth.6
165507452006A family-based association study of megsin A23167G polymorphism with susceptibility and progression of IgA nephropathy in a Chinese population.5
165507452006A family-based association study of megsin A23167G polymorphism with susceptibility and progression of IgA nephropathy in a Chinese population.5
185808572008The role of megsin, a serine protease inhibitor, in diabetic mesangial matrix accumulation.4

Citation

Dessen P

SERPINB7 (serpin family B member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53692/serpinb7