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SERPINA6 serpin family A member 6 [ Homo sapiens (human) ]

Gene ID: 866, updated on 3-Dec-2024

Summary

Official Symbol
SERPINA6provided by HGNC
Official Full Name
serpin family A member 6provided by HGNC
Primary source
HGNC:HGNC:1540
See related
Ensembl:ENSG00000170099 MIM:122500; AllianceGenome:HGNC:1540
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CBG
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 closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 177.4), gall bladder (RPKM 27.4) and 1 other tissue See more
Orthologs
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Genomic context

See SERPINA6 in Genome Data Viewer
Location:
14q32.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94304248..94323336, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88531534..88550620, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94770585..94789673, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 4 regulatory subunit 4 Neighboring gene serpin family A member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94757989-94758488 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:94812301-94813500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94828015-94828515 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:94839554-94840753 Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856427-94856928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94856929-94857428 Neighboring gene serpin family A member 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Corticosteroid-binding globulin deficiency
MedGen: C1852529 OMIM: 611489 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
corticosteroid-binding globulin
Names
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
serpin A6
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
transcortin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011796.2 RefSeqGene

    Range
    5000..24088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001756.4NP_001747.3  corticosteroid-binding globulin precursor

    Status: REVIEWED

    Source sequence(s)
    AL117259
    Consensus CDS
    CCDS9924.1
    UniProtKB/Swiss-Prot
    A8K456, P08185, Q7Z2Q9
    UniProtKB/TrEMBL
    A0A2Z4LCH4
    Related
    ENSP00000342850.3, ENST00000341584.4
    Conserved Domains (1) summary
    cd02056
    Location:42401
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    94304248..94323336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431827.1XP_047287783.1  corticosteroid-binding globulin isoform X1

    UniProtKB/TrEMBL
    A0A2Z4LCH4

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1418810..1437898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329028.1XP_054185003.1  corticosteroid-binding globulin isoform X1

    UniProtKB/TrEMBL
    A0A2Z4LCH4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    88531534..88550620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376844.1XP_054232819.1  corticosteroid-binding globulin isoform X1

    UniProtKB/TrEMBL
    A0A2Z4LCH4