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Aliases for SERPINA6 Gene

Aliases for SERPINA6 Gene

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

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. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and steroid binding. An important paralog of this gene is SERPINA11.

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

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

Genomics for SERPINA6 Gene

Regulatory Elements for SERPINA6 Gene

Enhancers for SERPINA6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SERPINA6 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERPINA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINA6 Gene

Chromosome:
14
Start:
94,304,248 bp from pter
End:
94,323,394 bp from pter
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

Proteomics data for SERPINA6 Gene at MOPED

Post-translational modifications for SERPINA6 Gene

  • Glycosylation in position Asn-260 is needed for steroid binding.
  • N-glycosylated; binds 5 oligosaccharide chains.
  • Glycosylation at Asn 31, Asn 96, Asn 176, Asn 260, Asn 330, and Asn 369
  • Modification sites at PhosphoSitePlus

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

Protein Domains for SERPINA6 Gene

InterPro:
Blocks:
ProtoNet:

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.
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SERPINA6 Gene COMPARTMENTS Subcellular localization image for SERPINA6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
nucleus 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components 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

Interacting Proteins for SERPINA6 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000342850%0d%0a9606.ENSP00000305529%0d%0a9606.ENSP00000346839%0d%0a9606.ENSP00000053867%0d%0a9606.ENSP00000306245%0d%0a
Selected Interacting proteins: ENSP00000342850 for SERPINA6 Gene via STRING

Gene Ontology (GO) - Biological Process for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity TAS 3299377
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alclometasone Approved Pharma binder, Carrier 0
Beclomethasone Approved, Investigational Pharma binder, Carrier 161
Ciclesonide Approved, Investigational Pharma binder, Carrier 74
Paramethasone Approved Pharma binder, Carrier 0
Rimexolone Approved Pharma binder, Carrier 0

(22) 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:

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 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, MOPED, and MaxQB for SERPINA6 Gene



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.
genes like me logo Genes that share expression patterns with SERPINA6: view

Protein tissue co-expression partners for SERPINA6 Gene

- Elite partner

Primer Products

Orthologs for SERPINA6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SERPINA6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SERPINA6 35
  • 79.87 (n)
  • 68.92 (a)
SERPINA6 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINA6 35
  • 79.98 (n)
  • 69.98 (a)
SERPINA6 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpina6 35
  • 72.06 (n)
  • 58.75 (a)
Serpina6 16
Serpina6 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SERPINA6 35
  • 99.09 (n)
  • 98.02 (a)
SERPINA6 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpina6 35
  • 72.34 (n)
  • 61.26 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPINA6 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 33 (a)
OneToMany
-- 36
  • 28 (a)
OneToMany
Species with no ortholog for SERPINA6:
  • 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

Pseudogenes.org Pseudogenes for SERPINA6 Gene

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

Variants for SERPINA6 Gene

Sequence variations from dbSNP and Humsavar for SERPINA6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs113418909 Corticosteroid-binding globulin deficiency (CBG deficiency) 94,314,305(+) CAAAG(A/T)GTTGG reference, missense
rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) 94,304,471(-) TCTTC(A/G)ACCAC reference, missense
rs2228541 - 94,309,884(-) ATGAC(G/T)CGGAG reference, missense
rs9115 -- 94,304,442(-) TTCCT(A/G)GCGAG reference, synonymous-codon
rs715033 -- 94,324,301(-) GATCA(A/C/G/T)TCAGT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv832862 CNV Gain 17160897
nsv470662 CNV Gain 18288195

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)

Relevant External Links for SERPINA6 Gene

Human Gene Mutation Database (HGMD)
SERPINA6

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

Disorders for SERPINA6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
corticosteroid-binding globulin deficiency
  • corticosteroid-binding globulin
adrenal gland hyperfunction
  • cushing syndrome
alpha 1-antitrypsin deficiency
  • aat deficiency
cushing's syndrome
  • cushing syndrome
anterior uveitis
  • iridocyclitis
- 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.

Relevant External Links for SERPINA6

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

No data available for Genatlas for SERPINA6 Gene

Publications for SERPINA6 Gene

  1. Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors. (PMID: 3299377) Hammond G.L. … Bardin C.W. (Proc. Natl. Acad. Sci. U.S.A. 1987) 2 3 4 67
  2. Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PMID: 10634411) Emptoz-Bonneton A. … Pugeat M. (J. Clin. Endocrinol. Metab. 2000) 3 23 25
  3. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. (PMID: 7912884) Byth B.C. … Cox D.W. (Am. J. Hum. Genet. 1994) 2 3 23
  4. A Leu-->His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. (PMID: 1504007) Smith C.L. … Hammond G.L. (J. Steroid Biochem. Mol. Biol. 1992) 3 23 25
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3

Products for SERPINA6 Gene

Sources for SERPINA6 Gene

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