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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SERPINA6 Gene

protein-coding GIFtS: 57
GCID: GC14M094770

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1...)
(Previous symbol: CBG)

Explore 56 diseases affiliated with
SERPINA6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6¹ ²		Corticosteroid Binding Globulin²
CBG¹ ² ³ ⁵		Corticosteroid-Binding Globulin²
Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6¹ ²		Transcortin³
Serpin A6² ³		Transcortin³

External Ids:	HGNC: 1540¹	Entrez Gene: 866²	Ensembl: ENSG00000170099⁷	OMIM: 122500⁵	UniProtKB: P08185³

Export aliases for SERPINA6 gene to outside databases

Previous GC identifers: GC14M092277 GC14M088587 GC14M092760 GC14M093840 GC14M074950

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SERPINA6:

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)

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

Function: Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species

Gene Wiki entry for SERPINA6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SERPINA6 gene promoter:
RP58 HOXA3 FOXD1 HNF-4alpha2 CBF-C HNF-4alpha1 CBF-B CBF-A Hlf CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SERPINA6 promoter sequence

Search SABiosciences Chromatin IP Primers for SERPINA6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINA6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.13 HGNC cytogenetic band: 14q32.13

SERPINA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA6 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M094770: view genomic region (about GC identifiers)

Start:	94,770,585 bp from pter	End:	94,789,731 bp from pter
Size:	19,147 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 (See protein sequence)

Recommended Name: Corticosteroid-binding globulin precursor

Size: 405 amino acids; 45141 Da

Subcellular location: Secreted

3 PDB 3D structures from and Proteopedia for SERPINA6:

2VDX (3D)

2VDY (3D)

4BB2 (3D)

Secondary accessions: A8K456 Q7Z2Q9

Explore the universe of human proteins at neXtProt for SERPINA6: NX_P08185

Post-translational modifications:

N-glycosylated; binds 5 oligosaccharide chains¹

Glycosylation in position Asn-260 is needed for steroid binding¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08185

SERPINA6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001747.2

ENSEMBL proteins:

ENSP00000451045 ENSP00000342850 ENSP00000452018

Human Recombinant Protein Products:

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	Novus Biologicals SERPINA6 Protein Novus Biologicals SERPINA6 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SERPINA6

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IBA	--

SERPINA6 for ontologies About GeneDecksing

SERPINA6 Antibody Products:

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	Uscn ELISAs and CLIAs for SERPINA6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SERPINA6 for domains About GeneDecksing

4 InterPro domains/families:

IPR000295 Prot_inh_Lserp2

IPR023795 Protease_inhib_I4_serpin_CS

IPR023796 Serpin_dom

IPR000215 Serpin_fam

Graphical View of Domain Structure for InterPro Entry P08185

ProtoNet protein and cluster: P08185

1 Blocks protein family: IPB000215 Serpin

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

Domain: Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids

Similarity: Belongs to the serpin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

Function: Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species

miRNA Products:		OriGene 3'-UTR Clone: SERPINA6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA6
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA6:
		hsa-miR-1253
		SwitchGear 3'UTR luciferase reporter plasmid: SERPINA6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINA6 (see all 7) OriGene shRNA RFP: SERPINA6 OriGene siRNA: SERPINA6
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SERPINA6

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SERPINA6
		Search LifeMap BioReagents cell lines for SERPINA6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA6

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	--
GO:0005496	steroid binding	IDA	18513745

SERPINA6 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for SERPINA6: Serpina6^tm1.1Mmp Serpina6^tm1Tew
     6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Serpina6):

behavior/neurological	homeostasis/metabolism	immune system	liver/biliary system	no phenotypic analysis
renal/urinary system

SERPINA6 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

1.00

1 PharmGKB Pathway for SERPINA6

Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SERPINA6

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SERPINA6 (ENSP00000342850⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKCSH	ENSP00000252455⁴	STRING: ENSP00000252455

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

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	IBA	--
GO:0030162	regulation of proteolysis	IBA	--

SERPINA6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SERPINA6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SERPINA6

10/18 DrugBank Compounds for SERPINA6 (see all 18) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Prednisolone	Deltahydrocortisone (see all 9)	50-24-8	carrier	binder	563315 17139284 6800390 11752352 17016423 7667198
Triamcinolone	Fluoxiprednisolone (see all 9)	124-94-7	carrier	binder	7001446 3996417 17139284 11752352 17016423 7222146
Flurandrenolide	Floudroxycortide (see all 10)	1524-88-5	carrier	binder	10634411 1504007 17139284 11752352 17016423
Alclometasone	--	66734-13-2	carrier	binder	17139284 11752352 17016423
Ciclesonide	--	141845-82-1	carrier	binder	17139284 11752352 17016423
Flumethasone Pivalate	--	2002-29-1	carrier	binder	17139284 11752352 17016423
Fluocinolone Acetonide	flucinolone (see all 4)	67-73-2	carrier	binder	17139284 11752352 17016423
Fluocinonide	Fluocinolide (see all 7)	356-12-7	carrier	binder	17139284 11752352 17016423
Paramethasone	--	53-33-8	carrier	binder	17139284 11752352 17016423
Rimexolone	--	49697-38-3	carrier	binder	17139284 11752352 17016423

10/57 Novoseek chemical compound relationships for SERPINA6 gene (see all 57) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
femovan	78.4	1	2142574 (1)
marvelon	76.9	5	9678089 (1), 7506680 (1), 8689882 (1), 2142574 (1)
gestodene	76.1	8	8171924 (1), 2308344 (1), 2142574 (1), 2142929 (1) (see all 6)
desogestrel	76.1	10	1306851 (1), 11518451 (1), 8574256 (1), 2308344 (1) (see all 8)
pcbg	73.2	5	1659892 (3)
acth	71.1	60	17904296 (4), 18694862 (4), 17327382 (3), 7641401 (2) (see all 27)
1,5-difluoro-2,4-dinitrobenzene	68.3	12	7756349 (2), 1849837 (1)
steroid	65.8	117	19011238 (4), 19643161 (4), 11688946 (3), 1778174 (2) (see all 36)
dehydroepiandrosterone sulfate	64.2	25	8827784 (4), 1620285 (2), 12699442 (1), 11518451 (1) (see all 13)
acth 1-24	64	2	16973979 (1), 17370058 (1)

Search CenterWatch for drugs/clinical trials and news about SERPINA6 / CBG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SERPINA6 gene:

NM_001756.3

Unigene Cluster for SERPINA6:

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

Hs.532635 [show with all ESTs]

Unigene Representative Sequence: BC036818

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000555056(uc010auv.3) ENST00000341584(uc001ycv.3) ENST00000557225

miRNA Products:		OriGene 3'-UTR Clone: SERPINA6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA6
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA6:
		hsa-miR-1253
		SwitchGear 3'UTR luciferase reporter plasmid: SERPINA6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINA6 (see all 7) OriGene shRNA RFP: SERPINA6 OriGene siRNA: SERPINA6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPINA6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINA6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINA6 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SERPINA6 (NM_001756)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINA6
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINA6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA6

Additional cDNA sequence:

AK225591.1 AK290821.1 AK313760.1 BC017462.1 BC036818.1 BC056259.1 BC058021.1 J02943.1

8 DOTS entries:

DT.100736573 DT.113676 DT.92435954 DT.100022546 DT.92435951 DT.92435952 DT.95161187 DT.432869

24/138 AceView cDNA sequences (see all 138):

R83169 BP357113 BM126924 BC036818 BM922154 AV661490 BI793291 BC056259

AV661262 C21275 BI962629 BP358843 CB111934 BG751249 AV660062 BC017462

AV697833 AV695519 BG432439 AV653255 AV699602 BP357788 BQ549577 AV720215

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6 About this scheme

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

ECgene alternative splicing isoforms for SERPINA6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SERPINA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCTTCGACC

About this image

SERPINA6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SERPINA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERPINA6

SOURCE GeneReport for Unigene cluster: Hs.532635

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

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

cells

SABiosciences Custom PCR Arrays for SERPINA6

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINA6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINA6 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	zgc:174260⁶ si:ch211-186e20.7⁶ (see all 8)	si:ch211-186e20.7 (see all 8)	35(a) 32(a) (see all 8)	many ↔ many many ↔ many (see all 8)	5(30450534-30456663) 5(30435853-30438848)
fruit fly (Drosophila melanogaster)	Insecta	Spn100A⁶ Spn6⁶ (see all 26)	Serine protease inhibitor 6 (see all 26)	9(a) 26(a) (see all 26)	possible ortholog possible ortholog (see all 26)	3R(26516366-26518490) 2R(14013810-14015715)
worm (Caenorhabditis elegans)	Secernentea	srp-2⁶ srp-1⁶ (see all 6)	SeRPin family member (srp-1) (see all 6)	24(a) 23(a) (see all 6)	possible ortholog possible ortholog (see all 6)	V(762735-764658) V(753335-755049)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G25240⁶ AT3G45220⁶ (see all 10)	serpin-Z4 (see all 10)	21(a) 20(a) (see all 10)	many ↔ many many ↔ many (see all 10)	2(10751768-10753134) 3(16564881-16566330)
rice (Oryza sativa)	Liliopsida	-- -- (see all 16)	serpin domain containing protein, putative (see all 16)	22(a) 21(a) (see all 16)	many ↔ many many ↔ many (see all 16)	3(23053071-23066803) 11(7415381-7416754)

ENSEMBL Gene Tree for SERPINA6 (if available)
TreeFam Gene Tree for SERPINA6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SERPINA6 gene

SERPING1² SERPINA1² SERPINH1² SERPINA10² SERPINA11² SERPINA7² SERPINA12² SERPINA9²

SERPINA5² SERPINF1² SERPIND1² SERPINA4² SERPINA3² SERPINF2²

18/31 SIMAP similar genes for SERPINA6 using alignment to 3 protein entries: CBG_HUMAN (see all proteins) (see all similar genes):

SERPINA3 SERPINA9 PLANH2 SERPINA12 SERPINA4 SERPINA11

SERPINA7 SERPINA1 SERPINA2P SERPINA5 SERPINA10 SERPINI1

SERPINB6 SERPINB2 HMSD SERPINA13P SERPINB9 SERPINC1

SERPINA6 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SERPINA6
PGOHUM00000249781

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113418909^1,2	C,F,	pathogenic	76856651(+)	`CAAAGA/TGTTGG`	2	H L	mis¹		2		NA EU	5805
rs28929488^1,2	C,F	pathogenic	76866476(-)	`TCTTCG/AACCAC`	2	/N /D	mis¹ ese³		4		NA EU	5879
rs78461445^1,2	F,	--	74950262(+)	`GAGCCT/CGTGGT`	1	--	ds500¹		1		WA	118
rs56901448^1,2	C,	--	74950366(+)	`TTCTCT/ATTAAC`	1	--	ds500¹		2		WA	120
rs74689657^1,2	C,F,	--	74950479(+)	`CTCCCG/ACTCTC`	1	--	ut3¹		1		NA	120
rs45515394^1,2	C,F,	--	74950968(+)	`GATTGG/TGCCCA`	1	--	int¹		1		NA	120
rs80242026^1,2		--	74951017(+)	`TTCACC/TGTCCA`	1	--	int¹		0	--	--	--	--
rs941601^1,2	C,F,A,H,	--	74951339(-)	`GAGTCG/ACTGGA`	1	--	int¹		25		NS EA NA WA CSA	2640
rs28744651^1,2		--	74951375(+)	`GGTGGC/TTCTGT`	1	--	int¹		1		CSA	2
rs73344882^1,2	C,	--	74951655(+)	`AGGTAC/ACACGG`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for SERPINA6 (94770585 - 94789731 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SERPINA6: --
Human Gene Mutation Database (HGMD): SERPINA6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SERPINA6 for disorders           About GeneDecksing

OMIM gene information: 122500
OMIM disorders: 611489
UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

Defects in SERPINA6 are a cause of corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489].

CBG deficiency is an 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

20/56 diseases for SERPINA6 (see all 56): About MalaCards

corticosteroid-binding globulin deficiency alpha 1-antitrypsin deficiency radioulnar synostosis patent ductus arteriosus

glucose intolerance polycystic ovary syndrome pre-eclampsia wegener's granulomatosis

insulin resistance cushing's syndrome chronic fatigue syndrome coronary heart disease

duodenal ulcer rheumatoid arthritis synostosis hyperthyroidism

addison's disease hypopituitarism hepatoblastoma liver cirrhosis

1 disease from the University of Copenhagen DISEASES database for SERPINA6:

Cushing's syndrome

10/33 Novoseek disease relationships for SERPINA6 gene (see all 33) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypercortisolemia	63.7	1	9247983 (1)
hypercortisolism	54	3	18976646 (1)
social stress	38.2	3	9691975 (3)
response acute phase	34.9	4	12727952 (2), 19726458 (1), 9360537 (1)
insulin resistance	30.8	38	12364459 (5), 10651759 (4), 18949680 (4), 15171749 (3) (see all 8)
hyperthyroidism	23.7	2	17327382 (1), 8130892 (1)
insulin sensitivity	22.8	12	10651759 (4), 10487686 (2), 10726905 (1), 11586502 (1)
shock septic	20.1	10	11685298 (3), 18976646 (2), 9360537 (2), 8440110 (1)
hepatoblastoma	12.8	1	10487686 (1)
sepsis	9.84	8	17578761 (3), 16973979 (1), 2370299 (1), 1504007 (1) (see all 5)

Genetic Association Database (GAD): SERPINA6
Human Genome Epidemiology (HuGE) Navigator: SERPINA6 (15 documents)

Export disorders for SERPINA6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SERPINA6 gene, integrated from 9 sources (see all 347):
(articles sorted by number of sources associating them with SERPINA6)

Utopia: connect your pdf to the dynamic
world of online information

Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PubMed id 10634411)^{1, 2, 7, 9} Emptoz-Bonneton A.... Pugeat M. (2000)
A Leu-->His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. (PubMed id 1504007)^{1, 2, 7, 9} Smith C.L.... Hammond G.L. (1992)
Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors. (PubMed id 3299377)^{1, 2, 3} Hammond G.L.... Bardin C.W. (1987)
The S-to-R transition of corticosteroid-binding globulin and the mechanism of hormone release. (PubMed id 18513745)^{1, 2, 9} Zhou A....Carrell R.W. (2008)
Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. (PubMed id 15554358)^{1, 4, 9} Torpy D.J....Whitworth J.A. (2004)
Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. (PubMed id 17245537)^{1, 2, 9} Buss C.... Meyer J. (2007)
Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. (PubMed id 8212073)^{1, 2, 9} van Baelen H.... Hammond G.L. (1993)
Corticosteroid binding globulin gene polymorphism influences cortisol driven fat distribution in obese women. (PubMed id 16222046)^{1, 4, 9} Barat P....Moisan M.P. (2005)
Physical and genetic mapping of the serpin gene clust er at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. (PubMed id 7912884)^{1, 3, 9} Byth B.C....Cox D.W. (1994)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 866	HGNC: 1540	AceView: SERPINA6	Ensembl:ENSG00000170099	euGenes: HUgn866
ECgene: SERPINA6	H-InvDB: SERPINA6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SERPINA6	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Transcortin

Intellectual Property for SERPINA6 gene
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Patent Information for SERPINA6 gene:
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GeneCards and IP:
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