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Aliases for SERPINA12 Gene

Aliases for SERPINA12 Gene

  • Serpin Family A Member 12 2 3 5
  • 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
  • Vaspin 3 4
  • OL-64 3 4
  • Visceral Adipose-Specific SERPIN 3
  • Visceral Adipose-Specific Serpin 4
  • Serpin A12 3

External Ids for SERPINA12 Gene

Previous GeneCards Identifiers for SERPINA12 Gene

  • GC14M092944
  • GC14M094023
  • GC14M094954
  • GC14M075133

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 Obesity and Diabetes Mellitus, Noninsulin-Dependent. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SERPINA12 Gene

Genomics for SERPINA12 Gene

Regulatory Elements for SERPINA12 Gene

Enhancers for SERPINA12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G094465 0.8 ENCODE 10.6 +51.9 51886 0.2 ELF3 SOX13 DRAP1 PKNOX1 FOXA2 SAP130 ARID4B RAD21 RARA TEAD3 ENSG00000256357 SERPINA12 SERPINA11 LOC105370635 SERPINA9
GH14G094597 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -82.4 -82360 6.1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 ZNF143 SNHG10 SERPINA10 SERPINA3 SCARNA13 SERPINA1 SERPINA5 SERPINA6 SERPINA11 SERPINA4 SERPINA9
GH14G094773 0.9 FANTOM5 ENCODE 5.2 -255.4 -255413 0.2 MXI1 RNF2 SUZ12 CBX2 CBX8 ZNF366 CTBP2 PRDM4 EZH2 SERPINA12 GSC GC14M094800
GH14G094866 0.4 FANTOM5 5.6 -349.0 -348972 0.4 HNF4A SERPINA12 ENSG00000274379 RPL15P2
GH14G094474 0.2 ENCODE 10.3 +43.0 42956 0.2 ENSG00000256357 SERPINA12 SERPINA11 SERPINA9 LOC105370635
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINA12 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINA12 Gene

Chromosome:
14
Start:
94,481,651 bp from pter
End:
94,517,844 bp from pter
Size:
36,194 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 at isoforms=221, Asn233, and Asn267
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SERPINA12 (Serpin A12)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SERPINA12

Assay Products

  • Cloud-Clone Corp. Assay Kits for SERPINA12

No data available for DME Specific Peptides for SERPINA12 Gene

Domains & Families for SERPINA12 Gene

Gene Families for SERPINA12 Gene

Protein Domains for SERPINA12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA12 Gene

GenScript: Design optimal peptide antigens:

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 (By similarity).
  • 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 (By similarity).
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.

Gene Ontology (GO) - Molecular Function for SERPINA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
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:

Animal Model Products

CRISPR Products

miRNA for SERPINA12 Gene

miRTarBase miRNAs that target SERPINA12

Inhibitory RNA Products

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 5
plasma membrane 3
endoplasmic reticulum 3
golgi apparatus 2
peroxisome 1
cytosol 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 --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with SERPINA12: view

Pathways & Interactions 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 IEA --
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

(2) Drugs for SERPINA12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SERPINA12: view

Transcripts for SERPINA12 Gene

mRNA/cDNA for SERPINA12 Gene

(9) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SERPINA12 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SERPINA12

Expression for SERPINA12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SERPINA12 Gene



Protein tissue co-expression partners for SERPINA12 Gene

NURSA nuclear receptor signaling pathways regulating expression of SERPINA12 Gene:

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(4.2)
genes like me logo Genes that share expression patterns with SERPINA12: view

Primer Products

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia SERPINA12 34 35
  • 77.32 (n)
cow
(Bos Taurus)
Mammalia SERPINA12 34 35
  • 76.89 (n)
rat
(Rattus norvegicus)
Mammalia Serpina12 34
  • 71.34 (n)
mouse
(Mus musculus)
Mammalia Serpina12 34 16 35
  • 70.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINA12 35
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINA12 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINA3 34
  • 52.91 (n)
SERPINA12 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINA12 35
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii serpina1 35
  • 31 (a)
ManyToMany
serpina1l 35
  • 31 (a)
ManyToMany
serpina7 35
  • 30 (a)
ManyToMany
zgc:174260 35
  • 30 (a)
ManyToMany
zgc:174259 35
  • 29 (a)
ManyToMany
CR559930.2 35
  • 28 (a)
ManyToMany
si:ch211-186e20.2 35
  • 28 (a)
ManyToMany
si:ch211-186e20.7 35
  • 28 (a)
ManyToMany
Species where no ortholog for SERPINA12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SERPINA12 Gene

Variants for SERPINA12 Gene

Sequence variations from dbSNP and Humsavar for SERPINA12 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000006577 -- 94,488,834(+) TCACG(A/C)CTGTA intron-variant
rs1000040351 -- 94,482,566(+) ATAGC(C/T)TGAGA intron-variant
rs1000098962 -- 94,516,847(+) TCAGG(A/G)TAGAA intron-variant
rs1000106741 -- 94,493,785(+) GGCAC(C/T)AGCCT intron-variant
rs1000138140 -- 94,493,589(+) AGCAG(C/T)CTGCA intron-variant

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)

Relevant External Links for SERPINA12 Gene

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

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

Disorders for SERPINA12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SERPINA12 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obesity
  • obesity, association with
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SERPINA12

Genetic Association Database (GAD)
SERPINA12
Human Genome Epidemiology (HuGE) Navigator
SERPINA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINA12
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. (Exp. Clin. Endocrinol. Diabetes 2010) 3 22 46 64
  2. Visceral adipose tissue-derived serine protease inhibitor: a unique insulin-sensitizing adipocytokine in obesity. (PMID: 16030142) Hida K. … Kanwar Y.S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3 64
  4. Vaspin inhibits kallikrein 7 by serpin mechanism. (PMID: 23370777) Heiker J.T. … Beck-Sickinger A.G. (Cell. Mol. Life Sci. 2013) 3 4 64
  5. Combined effects of body mass index and cardio/respiratory fitness on serum vaspin concentrations in Korean young men. (PMID: 19816707) Cho J.K. … Kang H.S. (Eur. J. Appl. Physiol. 2010) 3 22 64

Products for SERPINA12 Gene

Sources for SERPINA12 Gene

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