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SERPINA12 serpin family A member 12 [ Homo sapiens (human) ]

Gene ID: 145264, updated on 5-Mar-2024

Summary

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Official Symbol
SERPINA12provided by HGNC
Official Full Name
serpin family A member 12provided by HGNC
Primary source
HGNC:HGNC:18359
See related
Ensembl:ENSG00000165953 MIM:617471; AllianceGenome:HGNC:18359
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OL-64
Summary
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward skin (RPKM 63.5) See more
Orthologs
all
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Genomic context

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Location:
14q32.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94487279..94517844, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88716770..88747326, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94953616..94984181, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370635 Neighboring gene serpin family A member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94939998-94940750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94951885-94952418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94952419-94952950 Neighboring gene Sharpr-MPRA regulatory region 8049 Neighboring gene uncharacterized LOC124903410 Neighboring gene serpin family A member 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Could Vaspin Be a Potential Diagnostic Marker in Endometrial Cancer? Pietrzyk D, et al. Int J Environ Res Public Health, 2023 Mar 12. PMID 36981906, Free PMC Article
  2. Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma. Liu Y, et al. Br J Dermatol, 2022 Aug. PMID 35199331
  3. Review: Vaspin (SERPINA12) Expression and Function in Endocrine Cells. Kurowska P, et al. Cells, 2021 Jul 6. PMID 34359881, Free PMC Article
  4. Vaspin in atherosclerotic disease and cardiovascular risk in axial spondyloarthritis: a genetic and serological study. Rueda-Gotor J, et al. Arthritis Res Ther, 2021 Apr 13. PMID 33849644, Free PMC Article
  5. Association between Vaspin rs2236242 Gene Polymorphism and Psoriasis Vulgaris. Dizen-Namdar N, et al. Skin Pharmacol Physiol, 2020. PMID 33341805

See all (156) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
    Title: A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
  2. Serum Vaspin Levels in Gestational Diabetes Mellitus: A Meta-Analysis.
    Title: Serum Vaspin Levels in Gestational Diabetes Mellitus: A Meta-Analysis.
  3. Genetic dissection of serum vaspin highlights its causal role in lipid metabolism.
    Title: Genetic dissection of serum vaspin highlights its causal role in lipid metabolism.
  4. The role of the novel adipokines vaspin and omentin in chronic inflammatory diseases.
    Title: The role of the novel adipokines vaspin and omentin in chronic inflammatory diseases.
  5. Could Vaspin Be a Potential Diagnostic Marker in Endometrial Cancer?
    Title: Could Vaspin Be a Potential Diagnostic Marker in Endometrial Cancer?
  6. Vaspin Attenuates Atrial Abnormalities by Promoting ULK1/FUNDC1-Mediated Mitophagy.
    Title: Vaspin Attenuates Atrial Abnormalities by Promoting ULK1/FUNDC1-Mediated Mitophagy.
  7. Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.
    Title: Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.
  8. Serum vaspin levels are positively associated with diabetic retinopathy in patients with type 2 diabetes mellitus.
    Title: Serum vaspin levels are positively associated with diabetic retinopathy in patients with type 2 diabetes mellitus.
  9. Omentin-1 and vaspin serum levels in patients with pre-clinical carotid atherosclerosis and the effect of statin therapy on them.
    Title: Omentin-1 and vaspin serum levels in patients with pre-clinical carotid atherosclerosis and the effect of statin therapy on them.
  10. Effects of blood glucose on vaspin secretion in patients with gestational diabetes mellitus.
    Title: Effects of blood glucose on vaspin secretion in patients with gestational diabetes mellitus.
Submit: New GeneRIF Correction See all GeneRIFs (140)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular function inhibitor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in gluconeogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serpin A12
Names
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
vaspin
visceral adipose tissue-derived serine protease inhibitor
visceral adipose-specific SERPIN

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.

mRNA and Protein(s)

  1. NM_001304461.2 → NP_001291390.1  serpin A12

    See identical proteins and their annotated locations for NP_001291390.1

    Status: VALIDATED

    Source sequence(s)
    AL132708, AY326420
    Consensus CDS
    CCDS9926.1
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000451738.1, ENST00000556881.5
    Conserved Domains (1) summary
    cd19558
    Location:40 → 411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin

  2. NM_001382267.1 → NP_001369196.1  serpin A12 precursor

    Status: VALIDATED

    Source sequence(s)
    AL132708
    Consensus CDS
    CCDS9926.1
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000503935.1, ENST00000677451.1
    Conserved Domains (1) summary
    cd19558
    Location:40 → 411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin

  3. NM_173850.4 → NP_776249.1  serpin A12

    See identical proteins and their annotated locations for NP_776249.1

    Status: VALIDATED

    Source sequence(s)
    AL132708, AL132990, BC040857
    Consensus CDS
    CCDS9926.1
    UniProtKB/Swiss-Prot
    Q8IW75
    Related
    ENSP00000342109.2, ENST00000341228.2
    Conserved Domains (1) summary
    cd19558
    Location:40 → 411
    serpinA12_vaspin; serpin family A member 12, visceral adipose tissue-derived serpin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    94487279..94517844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    88716770..88747326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IW75.1 GenPept UniProtKB/Swiss-Prot:Q8IW75

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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