SERPINB3 Gene (Protein Coding)

Serpin Family B Member 3

GC18M063655
GIFtS:
43
See more...

Aliases for SERPINB3 Gene

Aliases for SERPINB3 Gene

  • Serpin Family B Member 3 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 3 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 3 2 3
  • Squamous Cell Carcinoma Antigen 1 3 4
  • Protein T4-A 3 4
  • Serpin B3 3 4
  • HsT1196 2 3
  • SCCA-1 3 4
  • SCCA1 3 4
  • T4-A 2 3
  • SERPINB3 5
  • SCCA-PD 3
  • SSCA1 3
  • SCCA 4
  • SCC 3

External Ids for SERPINB3 Gene

Previous HGNC Symbols for SERPINB3 Gene

  • SCC
  • SCCA1

Previous GeneCards Identifiers for SERPINB3 Gene

  • GC18M061161
  • GC18M061295
  • GC18M059455
  • GC18M059457
  • GC18M059473
  • GC18M058022
  • GC18M061322
  • GC18M063638

Summaries for SERPINB3 Gene

GeneCards Summary for SERPINB3 Gene

SERPINB3 (Serpin Family B Member 3) is a Protein Coding gene. Diseases associated with SERPINB3 include Lung Cancer and Cervical Squamous Cell Carcinoma. Among its related pathways are Innate Immune System and Amoebiasis. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB4.

UniProtKB/Swiss-Prot Summary for SERPINB3 Gene

  • May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1).

Gene Wiki entry for SERPINB3 Gene

Additional gene information for SERPINB3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB3 Gene

Genomics for SERPINB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINB3 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
GH18J063662 Promoter/Enhancer 0.6 EPDnew Ensembl 256.8 -0.3 -308 1.6 CEBPB SERPINB3 SERPINB11 HSALNG0122061 HSALNG0122064 SERPINB7
GH18J063680 Enhancer 0.9 FANTOM5 ENCODE 17.2 -20.8 -20761 3.4 BRCA1 CEBPB FOXA2 MAX EP300 RXRA STAT3 TBP JUND USF2 SERPINB3 SERPINB7 SERPINB12 SERPINB11 SERPINB5 HSALNG0122064 HSALNG0122061
GH18J063644 Promoter/Enhancer 0.5 EPDnew Ensembl 6.5 +17.3 17292 1.6 SERPINB4 lnc-SERPINB3-4 SERPINB3 HSALNG0122061 SERPINB11
GH18J063676 Enhancer 0.5 Ensembl 6.2 -15.9 -15854 2.5 CTCF CEBPB MAX MAFF SMC3 RAD21 MAFK EZH2 SERPINB11 SERPINB3 HSALNG0122064 HSALNG0122061 SERPINB7
GH18J063762 Enhancer 0.7 Ensembl ENCODE dbSUPER 4.4 -100.9 -100884 1.5 MAFK CEBPB piR-32023-098 SERPINB3 SERPINB7 HSALNG0122068-001 SERPINB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB3

Top Transcription factor binding sites by QIAGEN in the SERPINB3 gene promoter:
  • AREB6
  • HFH-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Ik-3
  • Pax-6
  • POU3F2
  • Sox9
  • SRF
  • SRF (504 AA)

Genomic Locations for SERPINB3 Gene

Latest Assembly
chr18:63,655,197-63,661,893
(GRCh38/hg38)
Size:
6,697 bases
Orientation:
Minus strand

Previous Assembly
chr18:61,322,431-61,329,127
(GRCh37/hg19 by Entrez Gene)
Size:
6,697 bases
Orientation:
Minus strand

chr18:61,322,431-61,329,197
(GRCh37/hg19 by Ensembl)
Size:
6,767 bases
Orientation:
Minus strand

Genomic View for SERPINB3 Gene

Genes around SERPINB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINB3 Gene

Proteins for SERPINB3 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SERPINB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29508-SPB3_HUMAN
    Recommended name:
    Serpin B3
    Protein Accession:
    P29508
    Secondary Accessions:
    • A6NDM2
    • B2RBT5
    • B3W5Y6
    • Q53H28
    • Q53YB5
    • Q86VF3
    • Q86W04
    • Q8IWL4
    • Q8IXI3
    • Q96J21
    • Q9BYF8

    Protein attributes for SERPINB3 Gene

    Size:
    390 amino acids
    Molecular mass:
    44565 Da
    Quaternary structure:
    • Interacts with MAPK8/JNK1.
    SequenceCaution:
    • Sequence=AAO11731.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPINB3 Gene

    Alternative splice isoforms for SERPINB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB3 Gene

Protein Expression for SERPINB3 Gene

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

Post-translational modifications for SERPINB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for SERPINB3 Gene

Domains & Families for SERPINB3 Gene

Gene Families for SERPINB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SERPINB3 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB3 Gene

GenScript: Design optimal peptide antigens:
  • Squamous cell carcinoma antigen-1 isoform SCCA-PD (B3W5Y6_HUMAN)
  • Squamous cell carcinoma antigen 1 (Q9BYH9_HUMAN)
  • Squamous cell carcinoma antigen 1 (SPB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29508

UniProtKB/Swiss-Prot:

SPB3_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 SERPINB3: view

Function for SERPINB3 Gene

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  6. Cell Lines for research

Molecular function for SERPINB3 Gene

UniProtKB/Swiss-Prot Function:
May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1).
UniProtKB/Swiss-Prot Induction:
Strongly up-regulated in the upper epidermis of sun-exposed skin.

Gene Ontology (GO) - Molecular Function for SERPINB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IDA 12975381
GO:0002020 protease binding IPI 21383048
GO:0004867 serine-type endopeptidase inhibitor activity IBA,NAS 7724531
GO:0004869 cysteine-type endopeptidase inhibitor activity IMP 21383048
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB3: view
genes like me logo Genes that share phenotypes with SERPINB3: view

Animal Models for research

miRNA for SERPINB3 Gene

miRTarBase miRNAs that target SERPINB3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINB3 Gene

Localization for SERPINB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB3 Gene

Cytoplasm. Note=Seems to also be secreted in plasma by cancerous cells but at a low level.

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 SERPINB3 gene
Compartment Confidence
nucleus 5
extracellular 4
lysosome 4
plasma membrane 3
cytosol 3
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005634 nucleus IDA 20527027
GO:0005737 cytoplasm IEA,IDA 20527027
GO:0031410 cytoplasmic vesicle IDA 21383048
genes like me logo Genes that share ontologies with SERPINB3: view

Pathways & Interactions for SERPINB3 Gene

PathCards logo

SuperPathways for SERPINB3 Gene

genes like me logo Genes that share pathways with SERPINB3: view

Pathways by source for SERPINB3 Gene

3 Reactome pathways for SERPINB3 Gene
1 KEGG pathway for SERPINB3 Gene

Gene Ontology (GO) - Biological Process for SERPINB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IMP 20527027
GO:0010466 negative regulation of peptidase activity IEA,IDA 12949073
GO:0010718 positive regulation of epithelial to mesenchymal transition IMP 20527027
GO:0010950 positive regulation of endopeptidase activity IDA 20527027
GO:0010951 negative regulation of endopeptidase activity IMP 21383048
genes like me logo Genes that share ontologies with SERPINB3: view

No data available for SIGNOR curated interactions for SERPINB3 Gene

Drugs & Compounds for SERPINB3 Gene

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(4) Drugs for SERPINB3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-serine Approved, Experimental Pharma Target 0
phosphoserine Experimental Pharma Target 0

(1) Additional Compounds for SERPINB3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINB3: view

Transcripts for SERPINB3 Gene

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mRNA/cDNA for SERPINB3 Gene

1 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
2 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 SERPINB3

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: -
SP2: - -
SP3: - - - - - - - - - - - - - -
SP4: -
SP5: - - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9: - - -

Relevant External Links for SERPINB3 Gene

GeneLoc Exon Structure for
SERPINB3

Expression for SERPINB3 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 SERPINB3 Gene

mRNA expression in normal human tissues for SERPINB3 Gene
mRNA expression by GTEx for SERPINB3 GenemRNA expression by BioGPS for SERPINB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINB3 Gene

This gene is overexpressed in Vagina (x18.3), Esophagus - Mucosa (x17.9), and Cervix - Ectocervix (x12.4).

Protein differential expression in normal tissues from HIPED for SERPINB3 Gene

This gene is overexpressed in Stomach (19.2), Esophagus (11.6), Oral epithelium (8.5), and Urine (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINB3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB3

SOURCE GeneReport for Unigene cluster for SERPINB3 Gene:

Hs.227948

mRNA Expression by UniProt/SwissProt for SERPINB3 Gene:

P29508-SPB3_HUMAN
Tissue specificity: Squamous cells. Expressed in some hepatocellular carcinoma (at protein level).

Evidence on tissue expression from TISSUES for SERPINB3 Gene

  • Lung(4.5)
  • Liver(4.3)
  • Skin(2.7)
  • Blood(2)
genes like me logo Genes that share expression patterns with SERPINB3: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB3 Gene

Orthologs for SERPINB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINB3 30 31
  • 97.95 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Serpinb3d 30 17 31
  • 71.5 (n)
 ManyToMany
Serpinb3a 31
  • 60 (a)
 ManyToMany
Serpinb3b 31
  • 58 (a)
 ManyToMany
Serpinb3c 31
  • 56 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia -- 31
  • 69 (a)
 ManyToMany
SERPINB4 31
  • 67 (a)
 ManyToMany
-- 31
  • 66 (a)
 ManyToMany
-- 31
  • 64 (a)
 ManyToMany
-- 31
  • 64 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 62 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 51 (a)
 ManyToMany
-- 31
  • 50 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 51 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves OVALY 31
  • 45 (a)
 ManyToMany
SERPINB14 31
  • 39 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 49 (a)
 ManyToMany
-- 31
  • 47 (a)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Spn1 32
  • 36 (a)
Spn4 32
  • 36 (a)
serpin-27A 32
  • 34 (a)
CG9455 32
  • 33 (a)
CG9460 32
  • 33 (a)
Spn3 32
  • 33 (a)
Spn6 32
  • 33 (a)
Spn2 32
  • 32 (a)
Spn43Aa 32
  • 31 (a)
CG6717 32
  • 29 (a)
Spn5 32
  • 28 (a)
CG6687 32
  • 27 (a)
CG7722 32
  • 27 (a)
nec 32
  • 27 (a)
Spn43Ab 32
  • 26 (a)
Worm
(Caenorhabditis elegans)
 Secernentea srp-7 32
  • 31 (a)
srp-1 32
  • 29 (a)
srp-6 32
  • 29 (a)
Species where no ortholog for SERPINB3 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for SERPINB3 Gene

ENSEMBL:
Gene Tree for SERPINB3 (if available)
TreeFam:
Gene Tree for SERPINB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB3: view image

Paralogs for SERPINB3 Gene

Paralogs for SERPINB3 Gene

(34) SIMAP similar genes for SERPINB3 Gene using alignment to 1 proteins:

  • SPB3_HUMAN
genes like me logo Genes that share paralogs with SERPINB3: view

Variants for SERPINB3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs12953909 Benign: not provided 63,655,746(-) C/T
NM_006919.3(SERPINB3):c.1084G>A (p.Glu362Lys) 		MISSENSE
rs73962331 Benign: not provided 63,655,764(-) G/A
NM_006919.3(SERPINB3):c.1066C>T (p.Pro356Ser) 		MISSENSE
rs1065205 - p.Thr357Ala
rs3180227 - p.Gly351Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB3 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 SERPINB3 Gene

Variant ID Type Subtype PubMed ID
dgv621e214 CNV loss 21293372
esv2717205 CNV deletion 23290073
esv3642778 CNV loss 21293372
esv3642779 CNV gain 21293372
nsv1057179 CNV loss 25217958
nsv1066552 CNV gain 25217958
nsv833672 CNV gain 17160897

Variation tolerance for SERPINB3 Gene

Residual Variation Intolerance Score: 94.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINB3 Gene

Human Gene Mutation Database (HGMD)
SERPINB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB3 Gene

Disorders for SERPINB3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SERPINB3 Gene - From: LNC, COP, and GCD

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, susceptibility to
cervical squamous cell carcinoma
  • squamous cell carcinoma of cervix
squamous cell carcinoma
  • epidermoid carcinoma
otomycosis
  • singapore ear
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINB3

Genetic Association Database
(GAD)
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 SERPINB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINB3 Gene

Publications for SERPINB3 Gene

  1. A serine proteinase inhibitor locus at 18q21.3 contains a tandem duplication of the human squamous cell carcinoma antigen gene. (PMID: 7724531) Schneider SS … Silverman GA (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 23
  2. Squamous cell carcinoma antigen-1 (SERPINB3) polymorphism in chronic liver disease. (PMID: 18657489) Turato C … Pontisso P (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2009) 3 23 41
  3. Overexpression of squamous cell carcinoma antigen variants in hepatocellular carcinoma. (PMID: 14970861) Pontisso P … Fassina G (British journal of cancer 2004) 3 4 23
  4. Circulating serpin tumor markers SCCA1 and SCCA2 are not actively secreted but reside in the cytosol of squamous carcinoma cells. (PMID: 10956412) Uemura Y … Silverman GA (International journal of cancer 2000) 3 4 23
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3

ExternalLinks

View latest publications for SERPINB3 gene in Mastermind

Products for SERPINB3 Gene

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