SERPINA7 (serpin family A member 7)

2014-11-01  

Identity

HGNC
SERPINA7
LOCATION
Xq22.3
LOCUSID
6906
ALIAS
TBG,TBGQTL

Other Information

Locus ID:

NCBI: 6906
MIM: 314200
HGNC: 11583
Ensembl: ENSG00000123561

Variants:

dbSNP: 6906
ClinVar: 6906
TCGA: ENSG00000123561
COSMIC: SERPINA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123561ENST00000327674P05543
ENSG00000123561ENST00000372563P05543

Expression (GTEx)

0
10
20
30
40
50
60
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
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918

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
228203902012Human thyroxine binding globulin (TBG) promoter directs efficient and sustaining transgene expression in liver-specific pattern.13
82323041993Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.12
213252802011Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins.10
194155322009A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.5
118891602002Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.4
119166152002Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency.4
119316352002Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis.4
178879252007A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency.4
253611802015A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.4
234586822013The allosteric modulation of thyroxine-binding globulin affinity is entropy driven.2

Citation

Dessen P

SERPINA7 (serpin family A member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73143/serpina7