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Aliases for SERPINB4 Gene

Aliases for SERPINB4 Gene

  • Serpin Family B Member 4 2 3 5
  • Squamous Cell Carcinoma Antigen 2 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
  • LEUPIN 3 4
  • SCCA-2 3 4
  • SCCA2 3 4
  • PI11 3 4
  • Protease Inhibitor (Leucine-Serpin) 3
  • Squamous Cell Carcinoma Antigen 1 3
  • SCCA2/SCCA1 Fusion Protein 3
  • Serpin B4 3
  • SCCA1 3
  • 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 Chromosome 18Q Deletion Syndrome. Among its related pathways are Amoebiasis. GO annotations related to this gene include enzyme binding and protease binding. An important paralog of this gene is SERPINB3.

UniProtKB/Swiss-Prot for SERPINB4 Gene

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

Gene Wiki entry for SERPINB4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB4 Gene

Genomics for SERPINB4 Gene

Regulatory Elements for SERPINB4 Gene

Enhancers for SERPINB4 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
GH18G063603 0.9 Ensembl ENCODE 0.3 +39.8 39842 2.6 ZFP64 ZBTB11 ZNF140 ZNF426 JUNB ZNF394 ZNF623 ZNF781 ZNF518A ZNF697 SERPINB11 SERPINB13 SERPINB4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINB4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINB4 Gene

Chromosome:
18
Start:
63,637,259 bp from pter
End:
63,644,319 bp from pter
Size:
7,061 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 StructureGene Density

RefSeq DNA sequence for SERPINB4 Gene

Proteins for SERPINB4 Gene

  • 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

Post-translational modifications for SERPINB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SERPINB4 Gene

Protein Products

No data available for DME Specific Peptides for SERPINB4 Gene

Domains & Families for SERPINB4 Gene

Gene Families for SERPINB4 Gene

Protein Domains for SERPINB4 Gene

InterPro:
Blocks:
ProtoNet:

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

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 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

Phenotypes for SERPINB4 Gene

genes like me logo Genes that share phenotypes with SERPINB4: view

Animal Models for SERPINB4 Gene

MGI Knock Outs for SERPINB4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SERPINB4

CRISPR Products

miRNA for SERPINB4 Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 5
nucleus 2
cytosol 2
plasma membrane 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 --
GO:0005622 intracellular IDA 21857942
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SERPINB4: view

Pathways & Interactions for SERPINB4 Gene

SuperPathways for SERPINB4 Gene

SuperPathway Contained pathways
1 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 IDA,IEA 12949073
GO:0010951 negative regulation of endopeptidase activity IEA --
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

(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

Unigene Clusters for SERPINB4 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SERPINB4 Gene

GeneLoc Exon Structure for
SERPINB4
ECgene alternative splicing isoforms for
SERPINB4

Expression for SERPINB4 Gene

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



Protein tissue co-expression partners for SERPINB4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINB4 Gene:

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(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with SERPINB4: view

Primer Products

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 34
  • 98.03 (n)
dog
(Canis familiaris)
Mammalia SERPINB4 34
  • 77.69 (n)
-- 35
  • 63 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC100337240 34
  • 75.32 (n)
-- 35
  • 68 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
SERPINB4 35
  • 66 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Serpinb3a 34 16 35
  • 71.68 (n)
Serpinb3d 35
  • 60 (a)
ManyToMany
Serpinb3b 35
  • 59 (a)
ManyToMany
Serpinb3c 35
  • 58 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Serpinb3a 34
  • 71.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 52 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves OVALY 34 35
  • 56.88 (n)
SERPINB14 35
  • 38 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490314 34
  • 55.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spn42Dd 34
  • 49.38 (n)
Spn4 36
  • 37 (a)
Spn1 36
  • 36 (a)
CG9455 36
  • 34 (a)
serpin-27A 36
  • 34 (a)
Spn2 36
  • 34 (a)
Spn6 36
  • 34 (a)
CG9460 36
  • 33 (a)
Spn3 36
  • 33 (a)
Spn43Aa 36
  • 32 (a)
CG6717 36
  • 30 (a)
Spn5 36
  • 29 (a)
CG7722 36
  • 28 (a)
nec 36
  • 28 (a)
CG6687 36
  • 27 (a)
Spn43Ab 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-5 34
  • 49.09 (n)
srp-7 36
  • 32 (a)
srp-1 36
  • 29 (a)
srp-6 36
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SRP3 34
  • 47.47 (n)
rice
(Oryza sativa)
Liliopsida Os03g0610700 34
  • 47.62 (n)
Species where no ortholog for SERPINB4 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)
  • 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 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)
  • 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)

Paralogs for SERPINB4 Gene

Variants for SERPINB4 Gene

Sequence variations from dbSNP and Humsavar for SERPINB4 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs193921093 Uncertain significance 63,639,770(-) AAAAA(A/T)TAAAA reference, missense
rs1000251482 -- 63,640,185(+) GCCCT(C/G)ATTGC intron-variant
rs1000308317 -- 63,644,790(+) GTCCA(A/G)AGAGA upstream-variant-2KB
rs1000360039 -- 63,644,466(+) AAGTC(A/G)GCAGT upstream-variant-2KB
rs1000643908 -- 63,643,526(+) GAACT(A/G)TTGGA reference, stop-gained

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)

Relevant External Links for SERPINB4 Gene

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

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

Disorders for SERPINB4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SERPINB4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
squamous cell carcinoma
  • epidermoid carcinoma
chromosome 18q deletion syndrome
  • 18q- syndrome
inverted papilloma
  • inverted papilloma, squamous cell
cervical squamous cell carcinoma
  • squamous cell carcinoma of cervix
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SERPINB4

Human Genome Epidemiology (HuGE) Navigator
SERPINB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINB4
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 S.S. … Silverman G.A. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4 22 64
  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. (J. Biol. Chem. 2004) 2 3 22 64
  3. Molecular cloning of human squamous cell carcinoma antigen 1 gene and characterization of its promoter. (PMID: 11267667) Hamada K. … Ito M. (Biochim. Biophys. Acta 2001) 3 4 22 64
  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 G.A. (Int. J. Cancer 2000) 3 4 22 64
  5. Identification of a novel human serpin gene; cloning sequencing and expression of leupin. (PMID: 7589435) Barnes R.C. … Worrall D.M. (FEBS Lett. 1995) 3 4 22 64

Products for SERPINB4 Gene

Sources for SERPINB4 Gene

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