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

    Gene ID: 145264, updated on 22-Apr-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. BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS.
      Title: BREAST CANCER-MODULATED OMENTIN AND VASPIN PLASMA LEVELS.
    2. 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.
    3. Serum Vaspin Levels in Gestational Diabetes Mellitus: A Meta-Analysis.
      Title: Serum Vaspin Levels in Gestational Diabetes Mellitus: A Meta-Analysis.
    4. 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.
    5. 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.
    6. Could Vaspin Be a Potential Diagnostic Marker in Endometrial Cancer?
      Title: Could Vaspin Be a Potential Diagnostic Marker in Endometrial Cancer?
    7. Vaspin Attenuates Atrial Abnormalities by Promoting ULK1/FUNDC1-Mediated Mitophagy.
      Title: Vaspin Attenuates Atrial Abnormalities by Promoting ULK1/FUNDC1-Mediated Mitophagy.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (141)

    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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    NEW Try the new Transcript table

    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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