Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	866
Gene name	Serpin family A member 6
Gene symbol	SERPINA6
Synonyms (NCBI Gene)	CBG
Chromosome	14
Chromosome location	14q32.13
Summary	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

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

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
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
MIRT1338619	hsa-miR-4511	CLIP-seq
MIRT1338620	hsa-miR-4516	CLIP-seq
MIRT1338621	hsa-miR-4784	CLIP-seq
MIRT1338622	hsa-miR-765	CLIP-seq
MIRT1338623	hsa-miR-890	CLIP-seq
MIRT2459134	hsa-miR-1275	CLIP-seq
MIRT1338615	hsa-miR-3150b-3p	CLIP-seq
MIRT1338616	hsa-miR-432	CLIP-seq
MIRT1338618	hsa-miR-4443	CLIP-seq
MIRT2459135	hsa-miR-4525	CLIP-seq
MIRT2459136	hsa-miR-4665-5p	CLIP-seq
MIRT2459137	hsa-miR-4723-5p	CLIP-seq
MIRT1338621	hsa-miR-4784	CLIP-seq
MIRT2459138	hsa-miR-625	CLIP-seq
MIRT1338622	hsa-miR-765	CLIP-seq
MIRT1338623	hsa-miR-890	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	3299377
GO:0005496	Function	Steroid binding	IDA	18513745
GO:0005496	Function	Steroid binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0008211	Process	Glucocorticoid metabolic process	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0140104	Function	Molecular carrier activity	EXP	7195404

MIM	HGNC	e!Ensembl
122500	1540	ENSG00000170099

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

MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPK
KNIFISPVSISMALAMLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSD
TSLEMTMGNALFLDGSLELLESFSADIKHYYESEVLAMNFQDWATASRQINSYVKNKTQG
KIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDETTVVKVPMMLQSSTI
SYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLY
IPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDT
AGSTGVTLNLTSKPIILRFNQPFIIMIFDHFTWSSLFLARVMNPV

Sequence length

405

Interactions

View interactions

	Reactome
			Glucocorticoid biosynthesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Corticosteroid-binding globulin deficiency	Likely pathogenic; Pathogenic	rs771441863, rs777245398	RCV001391242 RCV000018497

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs61754488	RCV005938932
SERPINA6-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs3748320, rs202038305, rs2228542, rs1042394, rs113418909, rs28929488, rs140038394, rs61754488, rs2228543	RCV003975779 RCV003909417 RCV003982309 RCV003977332 RCV003934839 RCV004757950 RCV003933843 RCV003924317 RCV003964368
Uterine corpus endometrial carcinoma	Benign	rs61754488	RCV005938933

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Endometriosis	Associate	7734053
Hepatitis B	Associate	30867825
Hyperinsulinism	Associate	12554596
Insulin Resistance	Associate	29126409
Neoplasm Metastasis	Inhibit	37591783
Neoplasms	Associate	10436419
Obesity	Associate	12554596, 16222046, 29126409
Ovarian Diseases	Associate	7734053
Ovarian Neoplasms	Associate	10436419
Pulmonary Disease Chronic Obstructive	Associate	29949718
Pulmonary Disease Chronic Obstructive	Inhibit	40243422
smoker's inclusion bodies	Inhibit	40243422
Somatoform Disorders	Associate	20403506
Squamous Cell Carcinoma of Head and Neck	Associate	34024816
Stomach Neoplasms	Inhibit	37591783
Stroke	Inhibit	30029587

SERPINA6 (serpin family A member 6)