SERPINB12 Gene (Protein Coding)

Serpin Family B Member 12

GC18P063556
GIFtS:
36
See more...

Aliases for SERPINB12 Gene

Aliases for SERPINB12 Gene

  • Serpin Family B Member 12 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 12 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 12 2 3
  • Serpin B12 3 4
  • YUKOPIN 2 3
  • SERPINB12 5

External Ids for SERPINB12 Gene

Previous GeneCards Identifiers for SERPINB12 Gene

  • GC18P061062
  • GC18P061196
  • GC18P059372
  • GC18P059374
  • GC18P057923

Summaries for SERPINB12 Gene

GeneCards Summary for SERPINB12 Gene

SERPINB12 (Serpin Family B Member 12) is a Protein Coding gene. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include enzyme binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB4.

UniProtKB/Swiss-Prot Summary for SERPINB12 Gene

  • Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator.

Additional gene information for SERPINB12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB12 Gene

Genomics for SERPINB12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINB12 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
GH18J063518 Enhancer 0.7 FANTOM5 ENCODE 252.1 -0.5 -537 0.2 CTCF REST TRIM22 SMC3 RAD21 ZNF652 YY1 ZSCAN5C ZNF654 SERPINB12 SERPINB11 SERPINB5 KDSR HSALNG0122056
GH18J063542 Promoter 0.3 EPDnew 268.3 +23.2 23224 0.1 SERPINB12 SERPINB5 hsa-miR-5095-249 piR-60146-061 SERPINB13
GH18J063546 Promoter 0.3 EPDnew 250.3 +27.7 27718 0.1 SERPINB12 SERPINB10 SERPINB5 hsa-miR-5095-249 piR-60146-061 SERPINB13
GH18J063584 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.7 +67.1 67095 3.1 MAFF SPI1 MAFK KLF1 SERPINB13 SERPINB11 SERPINB12 hsa-miR-5095-249
GH18J063105 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 8.5 -412.4 -412363 2.8 BCL11A FEZF1 ZIC2 IRF4 EBF1 ZNF843 PRDM6 SPI1 BATF INSM2 SERPINB12 HSALNG0122029 HSALNG0122027 LOC105372161 lnc-BCL2-2 HSALNG0122014-001 BCL2 PHLPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB12

Top Transcription factor binding sites by QIAGEN in the SERPINB12 gene promoter:
  • Brachyury
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CBF-B
  • CHOP-10
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5A

Genomic Locations for SERPINB12 Gene

Latest Assembly
chr18:63,519,164-63,569,329
(GRCh38/hg38)
Size:
50,166 bases
Orientation:
Plus strand

Previous Assembly
chr18:61,209,602-61,236,562
(GRCh37/hg19 by Entrez Gene)
Size:
26,961 bases
Orientation:
Plus strand

chr18:61,223,393-61,234,244
(GRCh37/hg19 by Ensembl)
Size:
10,852 bases
Orientation:
Plus strand

Genomic View for SERPINB12 Gene

Genes around SERPINB12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINB12 Gene

Proteins for SERPINB12 Gene

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  3. Assay products for research

  • Protein details for SERPINB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96P63-SPB12_HUMAN
    Recommended name:
    Serpin B12
    Protein Accession:
    Q96P63
    Secondary Accessions:
    • Q3SYB4

    Protein attributes for SERPINB12 Gene

    Size:
    405 amino acids
    Molecular mass:
    46276 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERPINB12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB12 Gene

Protein Expression for SERPINB12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINB12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Biorbyt antibodies for SERPINB12
  • Boster Bio Antibodies for SERPINB12

No data available for DME Specific Peptides for SERPINB12 Gene

Domains & Families for SERPINB12 Gene

Gene Families for SERPINB12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SERPINB12 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB12 Gene

GenScript: Design optimal peptide antigens:
  • SERPINB12 protein (Q3SYB5_HUMAN)
  • Serpin B12 (SPB12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96P63

UniProtKB/Swiss-Prot:

SPB12_HUMAN :
  • Belongs to the serpin family. Ov-serpin subfamily.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB12: view

Function for SERPINB12 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SERPINB12 Gene

UniProtKB/Swiss-Prot Function:
Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator.

Phenotypes From GWAS Catalog for SERPINB12 Gene

Gene Ontology (GO) - Molecular Function for SERPINB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA,IMP 11604408
GO:0019899 enzyme binding NAS 11604408
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB12: view
genes like me logo Genes that share phenotypes with SERPINB12: view

Animal Models for SERPINB12 Gene

MGI Knock Outs for SERPINB12:

Animal Models for research

  • Taconic Biosciences Mouse Models for SERPINB12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINB12 Gene

Localization for SERPINB12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB12 Gene

Cytoplasm.

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 SERPINB12 gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 2
cytosol 2
lysosome 1

Gene Ontology (GO) - Cellular Components for SERPINB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm NAS 11604408
GO:0005886 plasma membrane TAS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
GO:0101003 ficolin-1-rich granule membrane TAS --
genes like me logo Genes that share ontologies with SERPINB12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINB12 Gene

Pathways & Interactions for SERPINB12 Gene

PathCards logo

SuperPathways for SERPINB12 Gene

genes like me logo Genes that share pathways with SERPINB12: view

Pathways by source for SERPINB12 Gene

3 Reactome pathways for SERPINB12 Gene

Gene Ontology (GO) - Biological Process for SERPINB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
GO:0042177 negative regulation of protein catabolic process NAS 11604408
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with SERPINB12: view

No data available for SIGNOR curated interactions for SERPINB12 Gene

Drugs & Compounds for SERPINB12 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for SERPINB12 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SERPINB12 Gene

2 REFSEQ mRNAs :
4 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 SERPINB12

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB12 Gene

No ASD Table

Relevant External Links for SERPINB12 Gene

GeneLoc Exon Structure for
SERPINB12

Expression for SERPINB12 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINB12 Gene

mRNA expression in normal human tissues for SERPINB12 Gene
mRNA expression by GTEx for SERPINB12 GenemRNA expression by BioGPS for SERPINB12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINB12 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x14.7), Skin - Sun Exposed (Lower leg) (x14.5), Vagina (x13.8), and Cervix - Ectocervix (x8.5).

Protein differential expression in normal tissues from HIPED for SERPINB12 Gene

This gene is overexpressed in Cerebrospinal fluid (18.5) and Urine (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINB12 Gene



Protein tissue co-expression partners for SERPINB12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB12

SOURCE GeneReport for Unigene cluster for SERPINB12 Gene:

Hs.348541

mRNA Expression by UniProt/SwissProt for SERPINB12 Gene:

Q96P63-SPB12_HUMAN
Tissue specificity: Expressed in many tissues, including brain, bone marrow, lymph node, heart, lung, liver, pancreas, testis, ovary, and intestine.

Evidence on tissue expression from TISSUES for SERPINB12 Gene

  • Skin(2)
genes like me logo Genes that share expression patterns with SERPINB12: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB12 Gene

Orthologs for SERPINB12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINB12 30 31
  • 99.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SERPINB12 30 31
  • 85.19 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINB13 30
  • 82.55 (n)
SERPINB12 31
  • 73 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpinb12 30
  • 79.01 (n)
Mouse
(Mus musculus)
 Mammalia Serpinb12 30 17 31
  • 78.68 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SERPINB12 31
  • 62 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SERPINB12 30
  • 58.04 (n)
-- 31
  • 45 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 47 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Spn2 32
  • 33 (a)
Spn3 32
  • 31 (a)
CG6717 32
  • 28 (a)
CG7722 32
  • 28 (a)
CG6687 32
  • 26 (a)
Species where no ortholog for SERPINB12 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for SERPINB12 Gene

ENSEMBL:
Gene Tree for SERPINB12 (if available)
TreeFam:
Gene Tree for SERPINB12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB12: view image

Paralogs for SERPINB12 Gene

Paralogs for SERPINB12 Gene

(39) SIMAP similar genes for SERPINB12 Gene using alignment to 3 proteins:

  • SPB12_HUMAN
  • Q3SYB4_HUMAN
  • Q3SYB5_HUMAN
genes like me logo Genes that share paralogs with SERPINB12: view

Variants for SERPINB12 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB12 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs11664907 - p.Asn338Ser
rs35352345 - p.Asn289Thr
rs35582068 - p.Lys227Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB12 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 SERPINB12 Gene

Variant ID Type Subtype PubMed ID
esv3642773 CNV loss 21293372
nsv1066552 CNV gain 25217958

Variation tolerance for SERPINB12 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINB12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB12 Gene

Disorders for SERPINB12 Gene

Additional Disease Information for SERPINB12

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SERPINB12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SERPINB12 Gene

Publications for SERPINB12 Gene

  1. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3
  2. SERPINB12 is a novel member of the human ov-serpin family that is widely expressed and inhibits trypsin-like serine proteinases. (PMID: 11604408) Askew YS … Silverman GA (The Journal of biological chemistry 2001) 3 4
  3. SERPINB12 as a possible marker of steroid dependency in children with eosinophilic esophagitis: A pilot study. (PMID: 31653522) Oliva S … Carissimi C (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2020) 3
  4. Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation. (PMID: 30948266) Lee SH … Mayr C (Molecular cell 2019) 3
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3

ExternalLinks

View latest publications for SERPINB12 gene in Mastermind

Products for SERPINB12 Gene

  • Biorbyt antibodies for SERPINB12

Sources for SERPINB12 Gene