Free for academic non-profit institutions. Other users need a Commercial license

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
  • Serpin A6 3 4
  • CBG 3 4
  • Corticosteroid Binding Globulin 2
  • Corticosteroid-Binding Globulin 3

External Ids for SERPINA6 Gene

Previous HGNC Symbols for SERPINA6 Gene

  • CBG

Previous GeneCards Identifiers for SERPINA6 Gene

  • GC14M092277
  • GC14M088587
  • GC14M092760
  • GC14M093840
  • GC14M094770
  • GC14M074950

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 Adrenal Gland Hyperfunction. 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 for SERPINA6 Gene

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

Gene Wiki entry for SERPINA6 Gene

Additional gene information for SERPINA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINA6 Gene

Genomics for SERPINA6 Gene

GeneHancer (GH) Regulatory Elements for SERPINA6 Gene

Promoters and enhancers for SERPINA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I094322 Promoter/Enhancer 1.4 EPDnew ENCODE 550.8 +0.4 448 1.6 FOXA2 ARID4B DMAP1 ZNF48 ETS1 YY1 GLIS2 RXRA SP5 NFYC SERPINA6 ENSG00000256357 SERPINA1 SERPINA10
GH14I094597 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19 -276.8 -276810 6.1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS SP5 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SCARNA13 SNHG10 DICER1 SERPINA6 SERPINA11 SERPINA4
GH14I094593 Enhancer 1.2 FANTOM5 ENCODE 19.1 -270.7 -270673 1.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 SERPINA5 SERPINA1 SERPINA6 SERPINA11 SERPINA10 SERPINA3 SERPINA4 ENSG00000273259
GH14I094281 Enhancer 0.3 FANTOM5 41 +41.4 41367 0.3 SERPINA6 SERPINA10 SERPINA3 SERPINA11 SERPINA1 SERPINA4 ENSG00000256357 PPP4R4 SERPINA5 GC14M094218
GH14I094319 Enhancer 0.8 ENCODE 0.8 +2.9 2917 1.2 ELF3 PKNOX1 FOXA2 ARID4B RAD21 RFX5 RARA YY1 FOS CREM ENSG00000256357 SERPINA6 SERPINA10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SERPINA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINA6 gene promoter:

Genomic Locations for SERPINA6 Gene

Genomic Locations for SERPINA6 Gene
chr14:94,304,248-94,323,394
(GRCh38/hg38)
Size:
19,147 bases
Orientation:
Minus strand
chr14:94,770,585-94,789,731
(GRCh37/hg19)

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

  • Glycosylation in position Asn-260 is needed for steroid binding.
  • N-glycosylated; binds 5 oligosaccharide chains.
  • Glycosylation at isoforms=31, isoforms=96, isoforms=176, posLast=260260, posLast=330330, and isoforms=369

Other Protein References for SERPINA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:

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 3299377
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:

Animal Model Products

Clone Products

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
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 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 HDA,IEA 16502470
GO:0070062 extracellular exosome HDA,IDA 23376485
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:0006810 transport IEA --
GO:0008211 glucocorticoid metabolic process IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
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

(63) Drugs for SERPINA6 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, 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 74
Paramethasone Approved Pharma Carrier, binder 0
Rimexolone Approved Pharma Carrier, binder 2
Triamcinolone Approved, Vet_approved Pharma Agonist, Carrier, binder 565

(21) 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

Unigene Clusters for SERPINA6 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
SERPINA6

Expression for SERPINA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SERPINA6 Gene



Protein tissue co-expression partners for SERPINA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINA6 Gene:

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(4.3)
  • Bone marrow(4)
  • Adrenal gland(3.1)
  • Blood(2.9)
  • Nervous system(2.4)
  • Kidney(2.3)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • urinary
Organs:
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

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 33 34
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia SERPINA6 33 34
  • 79.98 (n)
cow
(Bos Taurus)
Mammalia SERPINA6 33 34
  • 79.87 (n)
rat
(Rattus norvegicus)
Mammalia Serpina6 33
  • 72.34 (n)
mouse
(Mus musculus)
Mammalia Serpina6 33 16 34
  • 72.06 (n)
oppossum
(Monodelphis domestica)
Mammalia SERPINA6 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 33 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
Species where no ortholog for SERPINA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SERPINA6 Gene

Variants for SERPINA6 Gene

Sequence variations from dbSNP and Humsavar for SERPINA6 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs113418909 pathogenic, uncertain-significance, Corticosteroid-binding globulin deficiency, not specified, Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] 94,314,305(-) A/T coding_sequence_variant, missense_variant
rs28929488 pathogenic, Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] 94,304,471(-) C/T coding_sequence_variant, missense_variant
rs1085307658 uncertain-significance, not specified 94,309,801(-) C/T coding_sequence_variant, missense_variant
rs1000167474 -- 94,312,501(-) C/T intron_variant
rs1000197946 -- 94,312,308(-) T/C intron_variant

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

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

Disorders for SERPINA6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SERPINA6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
corticosteroid-binding globulin deficiency
  • cbg deficiency
adrenal gland hyperfunction
  • adrenocortical hyperfunction
subacute thyroiditis
  • de quervain's thyroiditis
hyperthyroidism
  • overactive thyroid
adrenal gland disease
  • abnormality of the adrenal glands
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for SERPINA6

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

No data available for Genatlas for SERPINA6 Gene

Publications for SERPINA6 Gene

  1. 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 22 58
  2. 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 22 58
  3. Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. (PMID: 15554358) Torpy DJ … Whitworth JA (Endocrine research 2004) 3 22 44 58
  4. A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis. (PMID: 11161981) Borgmann S … Fricke H (Clinical immunology (Orlando, Fla.) 2001) 3 22 44 58
  5. Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PMID: 10634411) Emptoz-Bonneton A … Pugeat M (The Journal of clinical endocrinology and metabolism 2000) 3 4 22 58

Products for SERPINA6 Gene

Sources for SERPINA6 Gene

Content
Loading form....