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 closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] See more...

Aliases for SERPINA6 Gene

Aliases for SERPINA6 Gene

  • Serpin Family A Member 6 2 3 5
  • Transcortin 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6 2 3
  • Corticosteroid-Binding Globulin 3 4
  • Serpin A6 3 4
  • CBG 3 4
  • Corticosteroid Binding Globulin 2
  • SERPINA6 5

External Ids for SERPINA6 Gene

Previous HGNC Symbols for SERPINA6 Gene

  • CBG

Previous GeneCards Identifiers for SERPINA6 Gene

  • GC14M092277
  • GC14M088587
  • GC14M092760
  • GC14M093840
  • GC14M094770
  • GC14M074950
  • GC14M094305
  • GC14M094341

Summaries for SERPINA6 Gene

Entrez Gene Summary for SERPINA6 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 closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]

GeneCards Summary for SERPINA6 Gene

SERPINA6 (Serpin Family A Member 6) is a Protein Coding gene. Diseases associated with SERPINA6 include Corticosteroid-Binding Globulin Deficiency and Hyperthyroidism. Among its related pathways are Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and steroid binding. An important paralog of this gene is SERPINA3.

UniProtKB/Swiss-Prot Summary for SERPINA6 Gene

  • Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.

Gene Wiki entry for SERPINA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA6 Gene

Genomics for SERPINA6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINA6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA6

Top Transcription factor binding sites by QIAGEN in the SERPINA6 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • FOXD1
  • Hlf
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA3
  • RP58

Genomic Locations for SERPINA6 Gene

Latest Assembly
chr14:94,304,248-94,323,389
(GRCh38/hg38)
Size:
19,142 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,770,585-94,789,673
(GRCh37/hg19 by Entrez Gene)
Size:
19,089 bases
Orientation:
Minus strand

chr14:94,770,585-94,789,731
(GRCh37/hg19 by Ensembl)
Size:
19,147 bases
Orientation:
Minus strand

Genomic View for SERPINA6 Gene

Genes around SERPINA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA6 Gene

Proteins for SERPINA6 Gene

  • Protein details for SERPINA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08185-CBG_HUMAN
    Recommended name:
    Corticosteroid-binding globulin
    Protein Accession:
    P08185
    Secondary Accessions:
    • A8K456
    • Q7Z2Q9

    Protein attributes for SERPINA6 Gene

    Size:
    405 amino acids
    Molecular mass:
    45141 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINA6 Gene

neXtProt entry for SERPINA6 Gene

Post-translational modifications for SERPINA6 Gene

  • N-glycosylated; binds 5 oligosaccharide chains.
  • Glycosylation in position Asn-260 is needed for steroid binding.
  • Glycosylation at Asn31, Asn96, Asn176, Asn260, Asn330, and Asn369
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CBG_HUMAN (788)

Other Protein References for SERPINA6 Gene

No data available for DME Specific Peptides for SERPINA6 Gene

Domains & Families for SERPINA6 Gene

Gene Families for SERPINA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINA6 Gene

Suggested Antigen Peptide Sequences for SERPINA6 Gene

GenScript: Design optimal peptide antigens:
  • Transcortin (CBG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08185

UniProtKB/Swiss-Prot:

CBG_HUMAN :
  • Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids.
  • Belongs to the serpin family.
Domain:
  • Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA6: view

Function for SERPINA6 Gene

Molecular function for SERPINA6 Gene

UniProtKB/Swiss-Prot Function:
Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.

Phenotypes From GWAS Catalog for SERPINA6 Gene

Gene Ontology (GO) - Molecular Function for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IBA 21873635
GO:0005496 steroid binding IEA,IDA 18513745
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with SERPINA6: view
genes like me logo Genes that share phenotypes with SERPINA6: view

Human Phenotype Ontology for SERPINA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINA6 Gene

MGI Knock Outs for SERPINA6:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA6

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINA6 Gene

Localization for SERPINA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with SERPINA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINA6 Gene

Pathways & Interactions for SERPINA6 Gene

genes like me logo Genes that share pathways with SERPINA6: view

Pathways by source for SERPINA6 Gene

Gene Ontology (GO) - Biological Process for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008211 glucocorticoid metabolic process IEA --
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
genes like me logo Genes that share ontologies with SERPINA6: view

No data available for SIGNOR curated interactions for SERPINA6 Gene

Drugs & Compounds for SERPINA6 Gene

(77) Drugs for SERPINA6 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alclometasone Approved Pharma Carrier, binder 0
Ciclesonide Approved, Investigational Pharma Carrier, binder 82
Rimexolone Approved Pharma Carrier, binder 2
Triamcinolone Approved, Vet_approved Pharma Carrier, binder 815
Betamethasone Approved, Vet_approved Pharma Carrier Glucocorticoid receptor agonist 292

(20) Additional Compounds for SERPINA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA6: view

Transcripts for SERPINA6 Gene

mRNA/cDNA for SERPINA6 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA6

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5
SP1: - -
SP2:
SP3: -

Relevant External Links for SERPINA6 Gene

GeneLoc Exon Structure for
SERPINA6

Expression for SERPINA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA6 Gene

This gene is overexpressed in Liver (x48.9).

Protein differential expression in normal tissues from HIPED for SERPINA6 Gene

This gene is overexpressed in Serum (20.4), Vitreous humor (9.1), and Plasma (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINA6 Gene



Protein tissue co-expression partners for SERPINA6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA6

SOURCE GeneReport for Unigene cluster for SERPINA6 Gene:

Hs.532635

mRNA Expression by UniProt/SwissProt for SERPINA6 Gene:

P08185-CBG_HUMAN
Tissue specificity: Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells.

Evidence on tissue expression from TISSUES for SERPINA6 Gene

  • Liver(4.8)
  • Lung(4.4)
  • Bone marrow(4.2)
  • Adrenal gland(2.9)
  • Blood(2.8)
  • Kidney(2.6)
  • Nervous system(2.6)
  • Heart(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • kidney
General:
  • blood vessel
genes like me logo Genes that share expression patterns with SERPINA6: view

Primer products for research

Orthologs for SERPINA6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SERPINA6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERPINA6 30 31
  • 99.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINA6 30 31
  • 79.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERPINA6 30 31
  • 79.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpina6 30
  • 72.34 (n)
Mouse
(Mus musculus)
Mammalia Serpina6 30 17 31
  • 72.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SERPINA6 31
  • 49 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 33 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
Species where no ortholog for SERPINA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SERPINA6 Gene

ENSEMBL:
Gene Tree for SERPINA6 (if available)
TreeFam:
Gene Tree for SERPINA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA6: view image

Paralogs for SERPINA6 Gene

Pseudogenes.org Pseudogenes for SERPINA6 Gene

genes like me logo Genes that share paralogs with SERPINA6: view

Variants for SERPINA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA6 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1085307658 Uncertain Significance: not provided 94,309,801(-) C/T
NM_001756.4(SERPINA6):c.819G>A (p.Met273Ile)
MISSENSE
rs113418909 Uncertain Significance: Corticosteroid-binding globulin deficiency; not provided. Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] 94,314,305(-) A/Tp.Leu115His
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)
MISSENSE
rs28929488 Pathogenic/Likely Pathogenic: Corticosteroid-binding globulin deficiency. Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] 94,304,471(-) C/Tp.Asp389Asn
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
MISSENSE
rs2228541 - p.Ser246Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA6 Gene

Variant ID Type Subtype PubMed ID
esv3635377 CNV gain 21293372
nsv470662 CNV gain 18288195
nsv479133 CNV novel sequence insertion 20440878
nsv832862 CNV gain 17160897

Variation tolerance for SERPINA6 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA6 Gene

Human Gene Mutation Database (HGMD)
SERPINA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA6 Gene

Disorders for SERPINA6 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SERPINA6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
corticosteroid-binding globulin deficiency
  • cbg deficiency
hyperthyroidism
  • overactive thyroid
subacute thyroiditis
  • de quervain's thyroiditis
conn's syndrome
  • conn syndrome
alpha-1-antitrypsin deficiency
  • a1atd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CBG_HUMAN
  • Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]: Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. {ECO:0000269 PubMed:10634411, ECO:0000269 PubMed:1504007, ECO:0000269 PubMed:17245537, ECO:0000269 PubMed:8212073}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SERPINA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINA6: view

No data available for Genatlas for SERPINA6 Gene

Publications for SERPINA6 Gene

  1. Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. (PMID: 8212073) Van Baelen H … Hammond GL (Steroids 1993) 3 4 23 74
  2. Genetic variation in neuroendocrine genes associates with somatic symptoms in the general population: results from the EPIFUND study. (PMID: 20403506) Holliday KL … McBeth J (Journal of psychosomatic research 2010) 3 23 41
  3. The S-to-R transition of corticosteroid-binding globulin and the mechanism of hormone release. (PMID: 18513745) Zhou A … Carrell RW (Journal of molecular biology 2008) 3 4 23
  4. Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. (PMID: 17245537) Buss C … Meyer J (Journal of neural transmission (Vienna, Austria : 1996) 2007) 3 4 23
  5. Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. (PMID: 15554358) Torpy DJ … Whitworth JA (Endocrine research 2004) 3 23 41

Products for SERPINA6 Gene

  • Boster Bio Antibodies for SERPINA6
  • Boster Bio ELISA Kits for SERPINA6

Sources for SERPINA6 Gene