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SERPINB4 serpin family B member 4 [ Homo sapiens (human) ]

Gene ID: 6318, updated on 27-Nov-2024

Summary

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Official Symbol
SERPINB4provided by HGNC
Official Full Name
serpin family B member 4provided by HGNC
Primary source
HGNC:HGNC:10570
See related
Ensembl:ENSG00000206073 MIM:600518; AllianceGenome:HGNC:10570
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PI11; SCCA1; SCCA2; LEUPIN; SCCA-2
Summary
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]
Expression
Biased expression in esophagus (RPKM 63.1), urinary bladder (RPKM 11.6) and 1 other tissue See more
Orthologs
all
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Genomic context

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See SERPINB4 in Genome Data Viewer
Location:
18q21.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63637259..63644256, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63842341..63849338, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61304493..61311490, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 12 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61255863-61257062 Neighboring gene serpin family B member 13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:61308020-61309219 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:61326051-61327250 Neighboring gene serpin family B member 3 Neighboring gene serpin family B member 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of a novel human serpin gene; cloning sequencing and expression of leupin. Barnes RC, et al. FEBS Lett, 1995 Oct 2. PMID 7589435
  2. Role of squamous cell carcinoma antigen-1 on liver cells after partial hepatectomy in transgenic mice. Villano G, et al. Int J Mol Med, 2010 Jan. PMID 19956912
  3. Overexpression of hepatitis B virus-binding protein, squamous cell carcinoma antigen 1, extends retention of hepatitis B virus in mouse liver. Xia HB, et al. Acta Biochim Biophys Sin (Shanghai), 2006 Jul. PMID 16820864
  4. Prognostic value of human papillomavirus and squamous cell carcinoma antigen in head and neck squamous cell carcinoma. Deng Z, et al. Cancer Sci, 2012 Dec. PMID 22937809, Free PMC Article
  5. The role of SCCA1 in asthma related physiological events in the airway epithelium and the effect of promoter variants on asthma and gene function. Karaaslan C, et al. Respir Med, 2013 Mar. PMID 23199842

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ALK fusion NSCLC oncogenes promote survival and inhibit NK cell responses via SERPINB4 expression.
    Title: ALK fusion NSCLC oncogenes promote survival and inhibit NK cell responses via SERPINB4 expression.
  2. Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome", trans "Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sezary syndrome.
    Title: Increased expression of squamous cell carcinoma antigen 1 and 2 in mycosis fungoides and Sézary syndrome.
  3. Differences in Thymus and Activation-Regulated Chemokine and Squamous Cell Carcinoma Antigen 2 Levels in Food Protein-Induced Enterocolitis Syndrome and Atopic Dermatitis.
    Title: Differences in Thymus and Activation-Regulated Chemokine and Squamous Cell Carcinoma Antigen 2 Levels in Food Protein-Induced Enterocolitis Syndrome and Atopic Dermatitis.
  4. Evaluation of squamous cell carcinoma antigen 1 expression in oral squamous cell carcinoma (tumor cells and peritumoral T-lymphocytes) and verrucous carcinoma and comparison with normal oral mucosa.
    Title: Evaluation of squamous cell carcinoma antigen 1 expression in oral squamous cell carcinoma (tumor cells and peritumoral T-lymphocytes) and verrucous carcinoma and comparison with normal oral mucosa.
  5. Clinical Significance of Serum Squamous Cell Carcinoma Antigen for Patients with Recurrent Esophageal Squamous Cell Carcinoma.
    Title: Clinical Significance of Serum Squamous Cell Carcinoma Antigen for Patients with Recurrent Esophageal Squamous Cell Carcinoma.
  6. Measurement of squamous cell carcinoma antigen 2 in lichen planus patients.
    Title: Measurement of squamous cell carcinoma antigen 2 in lichen planus patients.
  7. Serum SCCA1, SCCA2, periostin and TARC levels were all significantly increased in atopic dermatitis (AD) in Japanese Ishigaki cohort compared with those in non-AD, but only serum SCCA2 showed a significant increase in AD when assessed in each age group or in subgroup analysis and showed the best diagnosability for AD in ROC analysis.
    Title: Serum squamous cell carcinoma antigen (SCCA)-2 correlates with clinical severity of pediatric atopic dermatitis in Ishigaki cohort.
  8. Studied association of progastrin-releasing peptide (proGRP), neuron specific enolase (NSE), chromogranin a (CgA), and squamous cell cancer antigen (SCCA1) in pulmonary neuroendocrine tumor (PNET) and non-small-cell lung carcinoma (NSCLC). Results showed ProGRP can distinguish PNET patients from NSCLC patients, and with adjusted NSE values, it can differentiate the PNET group from the benign disease group.
    Title: Clinical significance of progastrin-releasing peptide, neuron-specific enolase, chromogranin a, and squamous cell cancer antigen in pulmonary neuroendocrine tumors.
  9. serum SCCA can not only be used in diagnosis and prognosis of squamous cell carcinomas but also as biomarkers for uremia, azotemia, diabetic nephropathy, and nephritic syndrome.
    Title: Serum SCCA levels in patients suffering cancers or other diseases.
  10. this study shows that SERPINB4 contributes to survival of allergenic TH2 cells
    Title: Antiapoptotic serine protease inhibitors contribute to survival of allergenic T(H)2 cells.
Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protection from natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of proteolysis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
serpin B4
Names
SCCA2/SCCA1 fusion protein
peptidase inhibitor 11
protease inhibitor (leucine-serpin)
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4
serpin peptidase inhibitor, clade B (ovalbumin), member 4
squamous cell carcinoma antigen 1
squamous cell carcinoma antigen 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053001.1 RefSeqGene

    Range
    5064..12061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002974.4 → NP_002965.1  serpin B4 isoform 1

    See identical proteins and their annotated locations for NP_002965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC017401, BU676816
    Consensus CDS
    CCDS11986.1
    UniProtKB/Swiss-Prot
    A8K847, P48594
    UniProtKB/TrEMBL
    Q86W05
    Related
    ENSP00000343445.5, ENST00000341074.10
    Conserved Domains (1) summary
    cl00137
    Location:4 → 390
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

  2. NM_175041.2 → NP_778206.1  serpin B4 isoform 2

    See identical proteins and their annotated locations for NP_778206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB046400, AK292212, BU676816
    UniProtKB/TrEMBL
    H0Y5H9, Q9BYF7
    Related
    ENSP00000398645.1, ENST00000413673.5
    Conserved Domains (1) summary
    cl00137
    Location:4 → 369
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    63637259..63644256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526138.2 → XP_011524440.1  serpin B4 isoform X1

    See identical proteins and their annotated locations for XP_011524440.1

    UniProtKB/Swiss-Prot
    A8K847, P48594
    UniProtKB/TrEMBL
    Q86W05
    Conserved Domains (1) summary
    cl00137
    Location:4 → 390
    SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    63842341..63849338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318968.1 → XP_054174943.1  serpin B4 isoform X1

    UniProtKB/Swiss-Prot
    A8K847, P48594
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48594.2 GenPept UniProtKB/Swiss-Prot:P48594

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