SERPINB6 (serpin family B member 6)

2009-08-01  

Identity

HGNC
SERPINB6
LOCATION
6p25.2
LOCUSID
5269
ALIAS
CAP,DFNB91,MSTP057,PI-6,PI6,PTI,SPI3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5269
MIM: 173321
HGNC: 8950
Ensembl: ENSG00000124570

Variants:

dbSNP: 5269
ClinVar: 5269
TCGA: ENSG00000124570
COSMIC: SERPINB6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124570ENST00000380520P35237
ENSG00000124570ENST00000380520A0A024QZX3
ENSG00000124570ENST00000380524P35237
ENSG00000124570ENST00000380524A0A024QZX3
ENSG00000124570ENST00000380529P35237
ENSG00000124570ENST00000380529A0A024QZX3
ENSG00000124570ENST00000380539P35237
ENSG00000124570ENST00000380539A0A024QZX3
ENSG00000124570ENST00000380546P35237
ENSG00000124570ENST00000380546A0A024QZX3
ENSG00000124570ENST00000612421A0A087X1N8
ENSG00000124570ENST00000616722A0A024QZX5
ENSG00000124570ENST00000642543A0A2R8YD12
ENSG00000124570ENST00000643098P35237
ENSG00000124570ENST00000643098A0A024QZX3
ENSG00000124570ENST00000643227A0A2R8Y517
ENSG00000124570ENST00000644178P35237
ENSG00000124570ENST00000644178A0A024QZX3
ENSG00000124570ENST00000644388P35237
ENSG00000124570ENST00000644388A0A024QZX3
ENSG00000124570ENST00000644693A0A2R8Y6N4
ENSG00000124570ENST00000644777A0A2R8Y5S1
ENSG00000124570ENST00000644828A0A2R8Y6A7
ENSG00000124570ENST00000644875A0A2R8Y5Y8
ENSG00000124570ENST00000645421A0A2R8Y517
ENSG00000124570ENST00000645580A0A024QZX5
ENSG00000124570ENST00000646688A0A2R8YDD0
ENSG00000124570ENST00000646775A0A2R8Y7E5
ENSG00000124570ENST00000649845A0A3B3ISC3

Expression (GTEx)

0
50
100
150
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
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Dissolution of Fibrin ClotREACTOMER-HSA-75205
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
204511702010A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.24
204511702010A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.24
194255022009[Colorectal cancer 2D-proteomics: identification of altered protein expression].11
194255022009[Colorectal cancer 2D-proteomics: identification of altered protein expression].11
177616922007SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes.10
177616922007SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes.10
161756372006Expression of serpinb6 serpins in germ and somatic cells of mouse gonads.6
161756372006Expression of serpinb6 serpins in germ and somatic cells of mouse gonads.6
146709192004Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers.9
146709192004Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers.9

Citation

Dessen P

SERPINB6 (serpin family B member 6)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51047/haematological-explorer/css/card-gene.css