Aliases for SERPINA12 Gene

Aliases for SERPINA12 Gene

  • Serpin Family A Member 12 2 3 5
  • Vaspin 2 3 4
  • OL-64 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 12 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 12 2 3
  • Visceral Adipose Tissue-Derived Serine Protease Inhibitor 3 4
  • Serpin A12 3 4
  • Visceral Adipose-Specific SERPIN 3
  • Visceral Adipose-Specific Serpin 4
  • SERPINA12 5

External Ids for SERPINA12 Gene

Previous GeneCards Identifiers for SERPINA12 Gene

  • GC14M092944
  • GC14M094023
  • GC14M094954
  • GC14M075133
  • GC14M094487
  • GC14M094526
  • GC14M094611

Summaries for SERPINA12 Gene

GeneCards Summary for SERPINA12 Gene

SERPINA12 (Serpin Family A Member 12) is a Protein Coding gene. Diseases associated with SERPINA12 include Carotid Stenosis and Type 2 Diabetes Mellitus. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA1.

UniProtKB/Swiss-Prot Summary for SERPINA12 Gene

  • Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA12 Gene

Genomics for SERPINA12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINA12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J094517 Enhancer 0.7 Ensembl 258 -0.1 -57 1.8 SMAD4 SAP130 ETV4 RARA TEAD3 CREM BCL6 SOX5 GTF2F1 HMG20A SERPINA12 ENSG00000287668 SERPINA4 SERPINA5
GH14J094465 Enhancer 0.7 ENCODE 10.6 +51.9 51885 0.2 JUND FOXA2 CTBP1 SAP130 RARA FOSL2 BCL6 SOX5 SMARCE1 PKNOX1 HSALNG0103368 ENSG00000256357 SERPINA12 SERPINA11 LOC105370635 SERPINA9
GH14J094597 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.4 -82.4 -82360 6.1 ZNF600 SSRP1 JUND ATF2 CEBPA ATF3 YY1 MXD4 CEBPB FOXA1 ENSG00000288028 HSALNG0103378 LOC112268127 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SERPINA6 SERPINA11 SCARNA13
GH14J094473 Enhancer 0.6 Ensembl ENCODE 10.3 +43.2 43243 2 CEBPA MAX CEBPG ENSG00000256357 SERPINA12 SERPINA11 lnc-SERPINA4-3 HSALNG0103368 SERPINA9 lnc-SERPINA9-1
GH14J094773 Enhancer 0.6 FANTOM5 ENCODE 5.2 -255.4 -255412 0.2 CBX8 EZH2 RAD21 POLR2A SERPINA12 ENSG00000285205 GSC GSC-DT HSALNG0103390 HSALNG0103391 DICER1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA12

Top Transcription factor binding sites by QIAGEN in the SERPINA12 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • ZID

Genomic Locations for SERPINA12 Gene

Latest Assembly
chr14:94,481,651-94,517,844
(GRCh38/hg38)
Size:
36,194 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,953,616-94,984,181
(GRCh37/hg19 by Entrez Gene)
Size:
30,566 bases
Orientation:
Minus strand

chr14:94,953,611-94,984,181
(GRCh37/hg19 by Ensembl)
Size:
30,571 bases
Orientation:
Minus strand

Genomic View for SERPINA12 Gene

Genes around SERPINA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA12 Gene

Proteins for SERPINA12 Gene

  • Protein details for SERPINA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW75-SPA12_HUMAN
    Recommended name:
    Serpin A12
    Protein Accession:
    Q8IW75

    Protein attributes for SERPINA12 Gene

    Size:
    414 amino acids
    Molecular mass:
    47175 Da
    Quaternary structure:
    • Forms a stable complex with KLK7.

    Three dimensional structures from OCA and Proteopedia for SERPINA12 Gene

neXtProt entry for SERPINA12 Gene

Post-translational modifications for SERPINA12 Gene

  • Glycosylation slightly decreases affinity for heparin, but otherwise has no significant effect on KLK7 inhibitory activity or thermal stability of the protein.
  • Glycosylation at Asn221, Asn233, and Asn267
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for SERPINA12

Protein products for research

No data available for DME Specific Peptides for SERPINA12 Gene

Domains & Families for SERPINA12 Gene

Gene Families for SERPINA12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SERPINA12 Gene

Suggested Antigen Peptide Sequences for SERPINA12 Gene

GenScript: Design optimal peptide antigens:
  • Visceral adipose-specific serpin (SPA12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IW75

UniProtKB/Swiss-Prot:

SPA12_HUMAN :
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
  • Belongs to the serpin family.
Domain:
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA12: view

Function for SERPINA12 Gene

Molecular function for SERPINA12 Gene

UniProtKB/Swiss-Prot Function:
Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Temperature dependence: Highly thermostable, with a Tm value of 70 degrees Celsius. Incubation at 60 degrees Celsius for two hours has no apparent effect on KLK7 inhibition activity. Polymerization is observed at 70 degrees Celsius and above. {ECO:0000269|PubMed:26199422, ECO:0000269|PubMed:26529565};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibition of KLK7 is enhanced by heparin.

Phenotypes From GWAS Catalog for SERPINA12 Gene

Gene Ontology (GO) - Molecular Function for SERPINA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA 21873635
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINA12: view
genes like me logo Genes that share phenotypes with SERPINA12: view

Animal Models for SERPINA12 Gene

MGI Knock Outs for SERPINA12:

miRNA for SERPINA12 Gene

miRTarBase miRNAs that target SERPINA12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERPINA12 Gene

Localization for SERPINA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA12 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA12 gene
Compartment Confidence
extracellular 4
plasma membrane 3
endoplasmic reticulum 3
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with SERPINA12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINA12 Gene

Pathways & Interactions for SERPINA12 Gene

PathCards logo

SuperPathways for SERPINA12 Gene

genes like me logo Genes that share pathways with SERPINA12: view

Pathways by source for SERPINA12 Gene

1 R&D Systems pathway for SERPINA12 Gene

Gene Ontology (GO) - Biological Process for SERPINA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA --
GO:0045721 negative regulation of gluconeogenesis IEA --
GO:0046628 positive regulation of insulin receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with SERPINA12: view

No data available for SIGNOR curated interactions for SERPINA12 Gene

Drugs & Compounds for SERPINA12 Gene

(1) Drugs for SERPINA12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SERPINA12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA12: view

Transcripts for SERPINA12 Gene

mRNA/cDNA for SERPINA12 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA12

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1: - -
SP2:

Relevant External Links for SERPINA12 Gene

GeneLoc Exon Structure for
SERPINA12

Expression for SERPINA12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x32.0) and Skin - Not Sun Exposed (Suprapubic) (x20.1).

Protein differential expression in normal tissues from HIPED for SERPINA12 Gene

This gene is overexpressed in Ovary (42.5), Cerebrospinal fluid (16.1), and Heart (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINA12 Gene



Protein tissue co-expression partners for SERPINA12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA12

SOURCE GeneReport for Unigene cluster for SERPINA12 Gene:

Hs.99476

mRNA Expression by UniProt/SwissProt for SERPINA12 Gene:

Q8IW75-SPA12_HUMAN
Tissue specificity: Expressed in visceral adipose tissues.

Evidence on tissue expression from TISSUES for SERPINA12 Gene

  • Skin(4.9)
  • Heart(4.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with SERPINA12: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA12 Gene

Orthologs for SERPINA12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERPINA12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERPINA12 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINA12 29 30
  • 77.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERPINA12 29 30
  • 76.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpina12 29
  • 71.34 (n)
Mouse
(Mus musculus)
Mammalia Serpina12 29 16 30
  • 70.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SERPINA12 30
  • 46 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SERPINA12 30
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SERPINA3 29
  • 52.91 (n)
SERPINA12 30
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SERPINA12 30
  • 34 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii serpina1l 30
  • 31 (a)
ManyToMany
serpina1 30
  • 31 (a)
ManyToMany
serpina7 30
  • 30 (a)
ManyToMany
zgc:174260 30
  • 30 (a)
ManyToMany
zgc:174259 30
  • 29 (a)
ManyToMany
CR559930.2 30
  • 28 (a)
ManyToMany
si:ch211-186e20.7 30
  • 28 (a)
ManyToMany
si:ch211-186e20.2 30
  • 28 (a)
ManyToMany
Species where no ortholog for SERPINA12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SERPINA12 Gene

ENSEMBL:
Gene Tree for SERPINA12 (if available)
TreeFam:
Gene Tree for SERPINA12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA12: view image
Alliance of Genome Resources:
Additional Orthologs for SERPINA12

Paralogs for SERPINA12 Gene

Variants for SERPINA12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA12 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs143897400 Benign: not provided 94,496,377(-) G/A
NM_173850.4(SERPINA12):c.901C>T (p.Arg301Cys)
MISSENSE
rs148689361 Benign: not provided 94,496,528(-) G/A
NM_173850.4(SERPINA12):c.750C>T (p.Gly250=)
SYNONYMOUS
rs17090972 Benign: not provided 94,497,974(-) G/Tp.Gln142Lys
NM_173850.4(SERPINA12):c.424C>A (p.Gln142Lys)
MISSENSE
rs34827644 Benign: not provided 94,496,495(-) T/C
NM_173850.4(SERPINA12):c.783A>G (p.Glu261=)
SYNONYMOUS
rs74077729 Likely Benign: not provided 94,496,560(-) T/C
NM_173850.4(SERPINA12):c.718A>G (p.Met240Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA12 Gene

Variant ID Type Subtype PubMed ID
nsv470662 CNV gain 18288195
nsv510649 CNV deletion 20534489
nsv565623 CNV gain 21841781
nsv565624 CNV loss 21841781
nsv832863 CNV gain 17160897
nsv832864 CNV loss 17160897
nsv832865 CNV gain 17160897

Variation tolerance for SERPINA12 Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA12 Gene

Human Gene Mutation Database (HGMD)
SERPINA12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA12
Leiden Open Variation Database (LOVD)
SERPINA12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA12 Gene

Disorders for SERPINA12 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SERPINA12 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINA12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA12 Gene

Publications for SERPINA12 Gene

  1. Vaspin (SERPINA12) genotypes and risk of type 2 diabetes: Results from the MONICA/KORA studies. (PMID: 18726871) Kempf K … Vollmert C (Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2010) 3 22 40
  2. Visceral adipose tissue-derived serine protease inhibitor: a unique insulin-sensitizing adipocytokine in obesity. (PMID: 16030142) Hida K … Kanwar YS (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22
  3. Glycosylation of human vaspin (SERPINA12) and its impact on serpin activity, heparin binding and thermal stability. (PMID: 28668641) Oertwig K … Heiker JT (Biochimica et biophysica acta. Proteins and proteomics 2017) 3 4
  4. A unique serpin P1' glutamate and a conserved β-sheet C arginine are key residues for activity, protease recognition and stability of serpinA12 (vaspin). (PMID: 26199422) Ulbricht D … Heiker JT (The Biochemical journal 2015) 3 4
  5. Vaspin inhibits kallikrein 7 by serpin mechanism. (PMID: 23370777) Heiker JT … Beck-Sickinger AG (Cellular and molecular life sciences : CMLS 2013) 3 4

Products for SERPINA12 Gene

Sources for SERPINA12 Gene