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

    Gene ID: 6318, updated on 2-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 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)

    Genotypes

    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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