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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 Body Mass Index Quantitative Trait Locus 11 and Diabetes Mellitus, Noninsulin-Dependent. 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 for SERPINA12 Gene

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

Additional gene information for SERPINA12 Gene

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

GeneHancer (GH) Regulatory Elements for SERPINA12 Gene

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
GH14J094465 Enhancer 0.8 ENCODE 10.6 +51.9 51885 0.2 ELF3 PKNOX1 FOXA2 ARID4B RAD21 RARA FOS GATAD2B NFIL3 MIER3 ENSG00000256357 SERPINA12 SERPINA11 LOC105370635 SERPINA9
GH14J094597 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 3.4 -82.4 -82360 6.1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS SP5 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SCARNA13 SNHG10 DICER1 SERPINA6 SERPINA11 SERPINA4
GH14J094773 Enhancer 0.7 FANTOM5 ENCODE 5.3 -255.4 -255412 0.2 MXI1 POLR2A SUZ12 CTBP2 EZH2 SERPINA12 ENSG00000285205 GC14M094800
GH14J094474 Enhancer 0.3 ENCODE 10.3 +43.0 42955 0.2 POLR2A ENSG00000256357 SERPINA12 SERPINA11 SERPINA9 LOC105370635
GH14J094354 Enhancer 1.1 FANTOM5 ENCODE 1.4 +162.5 162537 1.3 ARID4B DMAP1 ZNF48 YY1 RXRA REST PPARG NFIL3 SREBF1 RCOR2 SERPINA1 SERPINA12 SERPINA2 SERPINA6
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SERPINA12 Gene

Genomic Locations for SERPINA12 Gene
chr14:94,481,651-94,517,844
(GRCh38/hg38)
Size:
36,194 bases
Orientation:
Minus strand
chr14:94,953,611-94,984,181
(GRCh37/hg19)
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 at isoforms=267, posLast=233233, and isoforms=221
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Blocks:
InterPro:
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.

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 --
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

miRNA for SERPINA12 Gene

miRTarBase miRNAs that target SERPINA12

Clone 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

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

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:

Clone 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 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

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 33
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINA12 34 33
  • 77.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINA12 34 33
  • 76.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpina12 33
  • 71.34 (n)
mouse
(Mus musculus)
Mammalia Serpina12 16 34 33
  • 70.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINA12 34
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINA12 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINA3 33
  • 52.91 (n)
SERPINA12 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINA12 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii serpina1l 34
  • 31 (a)
ManyToMany
serpina1 34
  • 31 (a)
ManyToMany
serpina7 34
  • 30 (a)
ManyToMany
zgc:174260 34
  • 30 (a)
ManyToMany
zgc:174259 34
  • 29 (a)
ManyToMany
CR559930.2 34
  • 28 (a)
ManyToMany
si:ch211-186e20.7 34
  • 28 (a)
ManyToMany
si:ch211-186e20.2 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA12: view image

Paralogs for SERPINA12 Gene

Variants for SERPINA12 Gene

Sequence variations from dbSNP and Humsavar for SERPINA12 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000006577 -- 94,488,834(-) C/A intron_variant
rs1000040351 -- 94,482,566(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000098962 -- 94,516,847(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000106741 -- 94,493,785(-) T/C intron_variant
rs1000138140 -- 94,493,589(-) C/T 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)

Additional Variant Information 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 and Novoseek

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 58
  3. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 58
  4. Vaspin inhibits kallikrein 7 by serpin mechanism. (PMID: 23370777) Heiker JT … Beck-Sickinger AG (Cellular and molecular life sciences : CMLS 2013) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for SERPINA12 Gene

Sources for SERPINA12 Gene

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