SERPINA6 (serpin family A member 6)

Gene

• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 122500
• HGNC: 1540
• e!Ensembl: ENSG00000170099

Protein

• UniProt ID: 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

Pathways

Reactome:

Glucocorticoid biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Corticosteroid-binding globulin deficiency	Likely pathogenic; Pathogenic	rs771441863, rs777245398	RCV001391242 RCV000018497	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SERPINA6-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH Deficiency, Isolated	ACTH Deficiency	BEFREE	11502797		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	29194043		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	8539782		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19172388		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19172388	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18645713, 2839166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25198130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10436419		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33469137	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30029587		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	31307013		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	12554596	Associate	★☆☆☆☆ Found in Text Mining only
Corticosteroid-Binding Globulin Deficiency	Corticosteroid-Binding Globulin Deficiency	UNIPROT_DG	10634411, 1504007, 17245537, 8212073		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticosteroid-Binding Globulin Deficiency	Corticosteroid-Binding Globulin Deficiency	BEFREE	12554596, 12780753, 17245537, 19643164, 31570737		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticosteroid-Binding Globulin Deficiency	Corticosteroid-Binding Globulin Deficiency	ORPHANET_DG	12780753		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticosteroid-binding globulin deficiency	Corticosteroid-Binding Globulin Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticosteroid-Binding Globulin Deficiency	Corticosteroid-Binding Globulin Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticosteroid-Binding Globulin Deficiency	Corticosteroid-Binding Globulin Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28614036		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29922157		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	30776573		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	20022933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18092746	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28763121		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	16551731		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	8539782, 9768330		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	7734053	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	25226513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	25226513		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	11161981		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	7358827		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30867825	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	8391424, 9360537		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	12554596		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	12554596	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17245537, 19643166		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	8130892		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29126409	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25198130, 29031898, 8130892		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	25226513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	8130892		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	6932403		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	6932403		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	6932403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	9768330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10436419		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	20022933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19643166		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22479502, 25198130, 29721586		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28614036		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12554596, 16222046, 19643164, 22576823, 29126409		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	12554596, 16222046, 29126409	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	7734053	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10436419		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10436419	Associate	★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	11161981		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29949718	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40243422	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34024816	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	25226513		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37591783	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30029587	Inhibit	★☆☆☆☆ Found in Text Mining only