SERPINB4 Gene (Protein Coding)

Serpin Family B Member 4

GC18M063637
GIFtS:
39
The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic in... See more...

Aliases for SERPINB4 Gene

Aliases for SERPINB4 Gene

  • Serpin Family B Member 4 2 3 5
  • Squamous Cell Carcinoma Antigen 2 2 3 4
  • SCCA-2 2 3 4
  • PI11 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 4 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 4 2 3
  • Peptidase Inhibitor 11 3 4
  • Serpin B4 3 4
  • LEUPIN 2 3
  • SCCA1 2 3
  • SCCA2 3 4
  • Protease Inhibitor (Leucine-Serpin) 3
  • Squamous Cell Carcinoma Antigen 1 3
  • SCCA2/SCCA1 Fusion Protein 3
  • SERPINB4 5
  • Leupin 4
  • PI-11 4

External Ids for SERPINB4 Gene

Previous HGNC Symbols for SERPINB4 Gene

  • SCCA2

Previous GeneCards Identifiers for SERPINB4 Gene

  • GC18M061143
  • GC18M061277
  • GC18M059456
  • GC18M059419
  • GC18M059458
  • GC18M059459
  • GC18M058004

Summaries for SERPINB4 Gene

Entrez Gene Summary for SERPINB4 Gene

  • The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]

GeneCards Summary for SERPINB4 Gene

SERPINB4 (Serpin Family B Member 4) is a Protein Coding gene. Diseases associated with SERPINB4 include Squamous Cell Carcinoma and Maxillary Sinus Inverted Papilloma. Among its related pathways are Amoebiasis. Gene Ontology (GO) annotations related to this gene include enzyme binding and protease binding. An important paralog of this gene is SERPINB3.

UniProtKB/Swiss-Prot Summary for SERPINB4 Gene

  • May act as a protease inhibitor to modulate the host immune response against tumor cells.

Gene Wiki entry for SERPINB4 Gene

Additional gene information for SERPINB4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB4 Gene

Genomics for SERPINB4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINB4 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
GH18J063644 Promoter/Enhancer 0.5 EPDnew Ensembl 250.7 -0.3 -291 1.6 SERPINB4 lnc-SERPINB3-4 SERPINB3 HSALNG0122061 SERPINB11
GH18J063641 Enhancer 0.4 Ensembl 0.7 +2.9 2909 0.8 CEBPB EP300 STAT3 JUND SERPINB3 SERPINB4 lnc-SERPINB3-4 HSALNG0122060 SERPINB13
GH18J063603 Enhancer 0.5 ENCODE 0.3 +39.8 39833 2.6 BCL11A IRF4 JUND BATF ATF2 JUNB USF1 ZFHX2 SERPINB11 HSALNG0122058 piR-38351-233 SERPINB13 SERPINB4
GH18J063616 Enhancer 0.3 Ensembl 0.3 +27.2 27209 0.6 JUNB MTA2 HSALNG0122058 piR-42002-003 RF00998-063 SERPINB4 SERPINB13
GH18J063588 Enhancer 0.5 Ensembl 0.2 +54.2 54198 3 CEBPB SPI1 POLR2A MYC MAX SERPINB11 SERPINB12 SERPINB7 SERPINB10 SERPINB13 piR-38351-233 SERPINB4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB4

Top Transcription factor binding sites by QIAGEN in the SERPINB4 gene promoter:
  • HEN1
  • HFH-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-6
  • POU3F2
  • SRF
  • SRF (504 AA)

Genomic Locations for SERPINB4 Gene

Latest Assembly
chr18:63,637,259-63,644,310
(GRCh38/hg38)
Size:
7,052 bases
Orientation:
Minus strand

Previous Assembly
chr18:61,304,493-61,311,490
(GRCh37/hg19 by Entrez Gene)
Size:
6,998 bases
Orientation:
Minus strand

chr18:61,304,493-61,311,532
(GRCh37/hg19 by Ensembl)
Size:
7,040 bases
Orientation:
Minus strand

Genomic View for SERPINB4 Gene

Genes around SERPINB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINB4 Gene

Proteins for SERPINB4 Gene

Products:

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

  • Protein details for SERPINB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48594-SPB4_HUMAN
    Recommended name:
    Serpin B4
    Protein Accession:
    P48594
    Secondary Accessions:
    • A8K847

    Protein attributes for SERPINB4 Gene

    Size:
    390 amino acids
    Molecular mass:
    44854 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SERPINB4 Gene

Protein Expression for SERPINB4 Gene

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

Post-translational modifications for SERPINB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINB4 Gene

Domains & Families for SERPINB4 Gene

Gene Families for SERPINB4 Gene

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

Protein Domains for SERPINB4 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINB4 Gene

GenScript: Design optimal peptide antigens:
  • Squamous cell carcinoma antigen 2 (Q86W03_HUMAN)
  • Squamous cell carcinoma antigen 2 (Q86W05_HUMAN)
  • Serpin peptidase inhibitor, clade B (Ovalbumin), member 4, isoform CRA_a (Q9BYF7_HUMAN)
  • Squamous cell carcinoma antigen 2 (SPB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48594

UniProtKB/Swiss-Prot:

SPB4_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 SERPINB4: view

Function for SERPINB4 Gene

Products:

  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 SERPINB4 Gene

UniProtKB/Swiss-Prot Function:
May act as a protease inhibitor to modulate the host immune response against tumor cells.

Gene Ontology (GO) - Molecular Function for SERPINB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 21857942
GO:0004867 serine-type endopeptidase inhibitor activity IBA,NAS 7589435
GO:0019899 enzyme binding IPI 23382074
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB4: view
genes like me logo Genes that share phenotypes with SERPINB4: view

Animal Models for SERPINB4 Gene

MGI Knock Outs for SERPINB4:

Animal Models for research

miRNA for SERPINB4 Gene

miRTarBase miRNAs that target SERPINB4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERPINB4 Gene

Localization for SERPINB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB4 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 SERPINB4 gene
Compartment Confidence
extracellular 4
nucleus 3
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SERPINB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SERPINB4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINB4 Gene

Pathways & Interactions for SERPINB4 Gene

PathCards logo

SuperPathways for SERPINB4 Gene

SuperPathway Contained pathways
1 Amoebiasis
Amoebiasis
-
genes like me logo Genes that share pathways with SERPINB4: view

Pathways by source for SERPINB4 Gene

1 KEGG pathway for SERPINB4 Gene

Gene Ontology (GO) - Biological Process for SERPINB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA,IDA 12949073
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
GO:0030162 regulation of proteolysis NAS 7589435
GO:0042270 protection from natural killer cell mediated cytotoxicity IMP 21857942
genes like me logo Genes that share ontologies with SERPINB4: view

No data available for SIGNOR curated interactions for SERPINB4 Gene

Drugs & Compounds for SERPINB4 Gene

Products:

  1. Drug products for research

(2) Drugs for SERPINB4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SERPINB4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINB4: view

Transcripts for SERPINB4 Gene

Products:

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

mRNA/cDNA for SERPINB4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 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 SERPINB4

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB4 Gene

No ASD Table

Relevant External Links for SERPINB4 Gene

GeneLoc Exon Structure for
SERPINB4

Expression for SERPINB4 Gene

Products:

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINB4 Gene

mRNA expression in normal human tissues for SERPINB4 Gene
mRNA expression by BioGPS for SERPINB4 GenemRNA expression by GTEx for SERPINB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINB4 Gene

This gene is overexpressed in Vagina (x20.0), Esophagus - Mucosa (x13.4), Cervix - Ectocervix (x12.7), and Minor Salivary Gland (x5.2).

Protein differential expression in normal tissues from HIPED for SERPINB4 Gene

This gene is overexpressed in Cervix (24.7), Nasal epithelium (19.0), and Stomach (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINB4 Gene



Protein tissue co-expression partners for SERPINB4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB4

SOURCE GeneReport for Unigene cluster for SERPINB4 Gene:

Hs.123035

mRNA Expression by UniProt/SwissProt for SERPINB4 Gene:

P48594-SPB4_HUMAN
Tissue specificity: Squamous cells.

Evidence on tissue expression from TISSUES for SERPINB4 Gene

  • Bone marrow(4)
  • Skin(2.5)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with SERPINB4: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB4 Gene

Orthologs for SERPINB4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINB4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINB4 30
  • 98.03 (n)
Dog
(Canis familiaris)
 Mammalia SERPINB4 30
  • 77.69 (n)
-- 31
  • 63 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia LOC100337240 30
  • 75.32 (n)
-- 31
  • 68 (a)
 ManyToMany
-- 31
  • 66 (a)
 ManyToMany
SERPINB4 31
  • 66 (a)
 ManyToMany
-- 31
  • 64 (a)
 ManyToMany
-- 31
  • 64 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Serpinb3a 30 17 31
  • 71.68 (n)
 ManyToMany
Serpinb3d 31
  • 60 (a)
 ManyToMany
Serpinb3b 31
  • 59 (a)
 ManyToMany
Serpinb3c 31
  • 58 (a)
 ManyToMany
Rat
(Rattus norvegicus)
 Mammalia Serpinb3a 30
  • 71.16 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 52 (a)
 ManyToMany
-- 31
  • 52 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 52 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves OVALY 30 31
  • 56.88 (n)
 ManyToMany
SERPINB14 31
  • 38 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 50 (a)
 ManyToMany
-- 31
  • 49 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490314 30
  • 55.07 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Spn42Dd 30
  • 49.38 (n)
Spn4 32
  • 37 (a)
Spn1 32
  • 36 (a)
CG9455 32
  • 34 (a)
Spn2 32
  • 34 (a)
Spn6 32
  • 34 (a)
serpin-27A 32
  • 34 (a)
CG9460 32
  • 33 (a)
Spn3 32
  • 33 (a)
Spn43Aa 32
  • 32 (a)
CG6717 32
  • 30 (a)
Spn5 32
  • 29 (a)
CG7722 32
  • 28 (a)
nec 32
  • 28 (a)
CG6687 32
  • 27 (a)
Spn43Ab 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
 Secernentea srp-5 30
  • 49.09 (n)
srp-7 32
  • 32 (a)
srp-1 32
  • 29 (a)
srp-6 32
  • 29 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SRP3 30
  • 47.47 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0610700 30
  • 47.62 (n)
Species where no ortholog for SERPINB4 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for SERPINB4 Gene

ENSEMBL:
Gene Tree for SERPINB4 (if available)
TreeFam:
Gene Tree for SERPINB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB4: view image

Paralogs for SERPINB4 Gene

Paralogs for SERPINB4 Gene

(40) SIMAP similar genes for SERPINB4 Gene using alignment to 6 proteins:

  • SPB4_HUMAN
  • C9JZ65_HUMAN
  • F8W9L1_HUMAN
  • H0Y5H9_HUMAN
  • Q86W03_HUMAN
  • Q86W05_HUMAN
genes like me logo Genes that share paralogs with SERPINB4: view

Variants for SERPINB4 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB4 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs193921093 Uncertain Significance: Malignant tumor of prostate 63,639,770(-) A/T
NM_002974.4(SERPINB4):c.476T>A (p.Ile159Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB4 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 SERPINB4 Gene

Variant ID Type Subtype PubMed ID
dgv621e214 CNV loss 21293372
dgv994e212 CNV loss 25503493
esv2313855 CNV deletion 18987734
esv2717205 CNV deletion 23290073
esv3642777 CNV loss 21293372
esv3642778 CNV loss 21293372
esv3642779 CNV gain 21293372
nsv1066552 CNV gain 25217958
nsv833672 CNV gain 17160897
nsv978638 CNV duplication 23825009

Variation tolerance for SERPINB4 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINB4 Gene

Human Gene Mutation Database (HGMD)
SERPINB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB4 Gene

Disorders for SERPINB4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SERPINB4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
squamous cell carcinoma
  • epidermoid carcinoma
maxillary sinus inverted papilloma
  • inverted papilloma of the maxillary sinus
maxillary sinus benign neoplasm
  • neoplasm of maxillary sinus
inverted papilloma
  • inverted papilloma, squamous cell
acute frontal sinusitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINB4

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 SERPINB4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINB4 Gene

Publications for SERPINB4 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. The squamous cell carcinoma antigen 2 inhibits the cysteine proteinase activity of a major mite allergen, Der p 1. (PMID: 14630915) Sakata Y … Izuhara K (The Journal of biological chemistry 2004) 2 3 23
  3. Molecular cloning of human squamous cell carcinoma antigen 1 gene and characterization of its promoter. (PMID: 11267667) Hamada K … Ito M (Biochimica et biophysica acta 2001) 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. Identification of a novel human serpin gene; cloning sequencing and expression of leupin. (PMID: 7589435) Barnes RC … Worrall DM (FEBS letters 1995) 3 4 23

ExternalLinks

View latest publications for SERPINB4 gene in Mastermind

Products for SERPINB4 Gene

Sources for SERPINB4 Gene