Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6906
MIM: 314200
HGNC: 11583
Ensembl: ENSG00000123561
Variants:
dbSNP: 6906
ClinVar: 6906
TCGA: ENSG00000123561
COSMIC: SERPINA7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123561 | ENST00000327674 | P05543 |
| ENSG00000123561 | ENST00000372563 | P05543 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Thyroid hormone synthesis | KEGG | hsa04918 |
| Thyroid hormone synthesis | KEGG | ko04918 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34761328 | 2022 | Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function. | 3 |
| 36475360 | 2022 | Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea. | 0 |
| 34761328 | 2022 | Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function. | 3 |
| 36475360 | 2022 | Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea. | 0 |
| 33554479 | 2021 | Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency. | 4 |
| 34481533 | 2021 | The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency. | 1 |
| 33554479 | 2021 | Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency. | 4 |
| 34481533 | 2021 | The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency. | 1 |
| 32266677 | 2020 | Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene. | 2 |
| 32266677 | 2020 | Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene. | 2 |
| 29733970 | 2018 | Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling. | 3 |
| 29733970 | 2018 | Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling. | 3 |
| 28579773 | 2017 | Identification of thyroxine-binding globulin as a candidate plasma marker of chronic obstructive pulmonary disease. | 4 |
| 28579773 | 2017 | Identification of thyroxine-binding globulin as a candidate plasma marker of chronic obstructive pulmonary disease. | 4 |
| 25361180 | 2015 | A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. | 6 |
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-(serpin-family-a-member-7)
