SERPINA6 (serpin family A member 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
866
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family A member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINA6
Synonyms (NCBI Gene) Gene synonyms aliases
CBG
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closel
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs28929488 C>T Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs113418909 A>T Pathogenic, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT1338614 hsa-miR-1253 CLIP-seq
MIRT1338615 hsa-miR-3150b-3p CLIP-seq
MIRT1338616 hsa-miR-432 CLIP-seq
MIRT1338617 hsa-miR-4434 CLIP-seq
MIRT1338618 hsa-miR-4443 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0005496 Function Steroid binding IDA 18513745
GO:0005615 Component Extracellular space HDA 16502470
GO:0005615 Component Extracellular space IBA 21873635
GO:0008211 Process Glucocorticoid metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
122500 1540 ENSG00000170099
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P08185
Protein name Corticosteroid-binding globulin (CBG) (Serpin A6) (Transcortin)
Protein function Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.
PDB 2VDX , 2VDY , 4BB2 , 4C41 , 4C49
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 41 → 404 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells.
Sequence
Sequence length 405
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Glucocorticoid biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Corticosteroid-binding globulin deficiency Corticosteroid-Binding Globulin Deficiency, Corticosteroid-binding globulin deficiency rs777245398 12780753, 8212073, 17245537, 10634411, 1504007
Hypertension Hypertensive disease rs13306026
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder 20022933 ClinVar
Corticosteroid-Binding Globulin Deficiency corticosteroid-binding globulin deficiency GenCC
Show/Hide Text Mining Associations (26)
Associations from Text Mining
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 30867825
Acute Phase Reaction Associate 8540288
alpha 1 Antitrypsin Deficiency Associate 7912884
Astrocytoma Associate 19172388
Breast Neoplasms Associate 18645713, 2839166
Carcinoma Hepatocellular Associate 25198130
Cardiovascular Diseases Associate 33469137
Congenital Hyperinsulinism Associate 12554596
Corticosteroid Binding Globulin Deficiency Associate 12554596
Diabetes Mellitus Type 1 Associate 18092746