SERPINA7 (serpin family A member 7)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6906
Gene name Serpin family A member 7
Gene symbol SERPINA7
Synonyms (NCBI Gene)
TBGTBGQTL
Chromosome X
Chromosome location Xq22.3
Summary There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3`-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone tr
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs1050086 C>G,T Pathogenic Coding sequence variant, missense variant
rs1804495 C>A,T Pathogenic Coding sequence variant, missense variant, synonymous variant
rs2234036 C>T Pathogenic, benign, uncertain-significance Coding sequence variant, missense variant
rs28933689 A>T Pathogenic Coding sequence variant, missense variant
rs61754490 T>A,C Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 3094014
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
314200 11583 ENSG00000123561
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05543
Protein name Thyroxine-binding globulin (Serpin A7) (T4-binding globulin)
Protein function Major thyroid hormone transport protein in serum.
PDB 2CEO , 2RIV , 2RIW , 2XN3 , 2XN5 , 2XN6 , 2XN7 , 4X30 , 4YIA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 44 → 412 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Thyroid hormone synthesis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroxine-binding globulin deficiency, partial Pathogenic rs28933689 RCV000010454
Thyroxine-binding globulin quantitative trait locus Pathogenic rs2147841568 RCV001784958
Thyroxine-binding globulin, Chicago Pathogenic rs61754490 RCV000010459
Thyroxine-binding globulin, slow Pathogenic rs1050086 RCV000010444
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs1804495 RCV005887409
Cholangiocarcinoma Conflicting classifications of pathogenicity rs1804495 RCV005887412
Colorectal cancer Conflicting classifications of pathogenicity rs1804495 RCV005887411
Hepatocellular carcinoma Benign rs61737031 RCV005904781
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 6092383
Carcinoma Ovarian Epithelial Associate 26091520
Carcinoma Renal Cell Associate 26091520
Depressive Disorder Major Associate 33451315
Drug Related Side Effects and Adverse Reactions Associate 29368655
Emphysema Associate 25306249
Epilepsies Partial Associate 36475360
Genetic Diseases Inborn Associate 10580756
Hyperthyroidism Associate 1294376, 7647413
Hypothyroidism Associate 1901689, 33554479, 34126618, 36475360