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    SERPINB7 serpin family B member 7 [ Homo sapiens (human) ]

    Gene ID: 8710, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SERPINB7provided by HGNC
    Official Full Name
    serpin family B member 7provided by HGNC
    Primary source
    HGNC:HGNC:13902
    See related
    Ensembl:ENSG00000166396 MIM:603357; AllianceGenome:HGNC:13902
    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
    PPKN; TP55; MEGSIN
    Summary
    This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Restricted expression toward skin (RPKM 40.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINB7 in Genome Data Viewer
    Location:
    18q21.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63753057..63805370)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (63958110..64010475)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61420291..61472604)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 11 Neighboring gene uncharacterized LOC124904318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13469 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:61536385-61537584 Neighboring gene uncharacterized LOC124904356 Neighboring gene serpin family B member 2 Neighboring gene serpin family B member 10

    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. [Correlation between traditional Chinese medicine syndromes in primary immunoglobulin A nephropathy and A267G in 5'-untranslated region within exonal of megsin gene]. Zhong YF, et al. Zhong Xi Yi Jie He Xue Bao, 2008 May. PMID 18471408
    2. Association of Megsin Gene Variants With IgA Nephropathy in Northwest Chinese Population: A STROBE-Compliant Observational Study. Wei LT, et al. Medicine (Baltimore), 2016 Feb. PMID 26871801, Free PMC Article
    3. Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. Shiohama A, et al. J Invest Dermatol, 2016 Jan. PMID 26763456
    4. Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7. Suzuki S, et al. Br J Dermatol, 2015 Nov. PMID 25940237
    5. Association of Megsin gene polymorphism with IgA nephropathy risk. Zhou TB, et al. J Recept Signal Transduct Res, 2015 Apr. PMID 25007157

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.
      Title: Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.
    2. SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
      Title: SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
    3. SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
      Title: SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
    4. Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
      Title: Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
    5. Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
      Title: Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.
    6. Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
      Title: Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
    7. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.
      Title: Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.
    8. SERPINB7 novel mutation in Chinese patients with Nagashima-type palmoplantar keratosis and cases associated with atopic dermatitis.
      Title: SERPINB7 novel mutation in Chinese patients with Nagashima-type palmoplantar keratosis and cases associated with atopic dermatitis.
    9. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
      Title: Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
    10. SERPINB7 may be a valuable candidate for further studies. In the present study, a method for identifying novel key pathogenic skinspecific molecules is presented, which may be used for investigating and treating psoriasis.
      Title: Systematic screening and identification of novel psoriasis‑specific genes from the transcriptome of psoriasis‑like keratinocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    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

    Associated conditions

    Description Tests
    Palmoplantar keratoderma, Nagashima type
    MedGen: C3810072 OMIM: 615598 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of serpin peptidase inhibitor, clade B, member 7 (SERPINB7) in peptide-treated PBMCs PubMed
    capsid gag Exposure of dendritic cells to HIV-1 CA significantly decreases the presentation of ovalbumin to a SIINFEKL-specific CD8(+) T-cell hybridoma, and that decrease could be overcome by pretreating the cells with INF-gamma PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120014, MGC120015, DKFZp686D06190

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of glomerular mesangial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of platelet-derived growth factor production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serpin B7
    Names
    mesangium predominant gene, megsin
    serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7
    serpin peptidase inhibitor, clade B (ovalbumin), member 7

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_034150.1 RefSeqGene

      Range
      27372..57324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040147.3 → NP_001035237.1  serpin B7 isoform 1

      See identical proteins and their annotated locations for NP_001035237.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AF027866, CD702645, D88575
      Consensus CDS
      CCDS11988.1
      UniProtKB/Swiss-Prot
      B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
      UniProtKB/TrEMBL
      A8K4B1
      Related
      ENSP00000337212.2, ENST00000336429.6
      Conserved Domains (1) summary
      cd19566
      Location:1 → 380
      serpinB7_megsin; serpin family B member 7, megsin

    2. NM_001261830.2 → NP_001248759.1  serpin B7 isoform 1

      See identical proteins and their annotated locations for NP_001248759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AF027866, AK290673, D88575
      Consensus CDS
      CCDS11988.1
      UniProtKB/Swiss-Prot
      B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
      UniProtKB/TrEMBL
      A8K4B1
      Related
      ENSP00000444861.1, ENST00000546027.5
      Conserved Domains (1) summary
      cd19566
      Location:1 → 380
      serpinB7_megsin; serpin family B member 7, megsin

    3. NM_001261831.2 → NP_001248760.1  serpin B7 isoform 2

      See identical proteins and their annotated locations for NP_001248760.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF027866, AK300828, BP332064, D88575
      Consensus CDS
      CCDS58633.1
      UniProtKB/TrEMBL
      A8K4B1
      Related
      ENSP00000444572.1, ENST00000540675.5
      Conserved Domains (1) summary
      cl00137
      Location:4 → 363
      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 ...

    4. NM_003784.4 → NP_003775.1  serpin B7 isoform 1

      See identical proteins and their annotated locations for NP_003775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform.
      Source sequence(s)
      AF027866, BC069417, BP332064, D88575
      Consensus CDS
      CCDS11988.1
      UniProtKB/Swiss-Prot
      B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
      UniProtKB/TrEMBL
      A8K4B1
      Related
      ENSP00000381101.2, ENST00000398019.7
      Conserved Domains (1) summary
      cd19566
      Location:1 → 380
      serpinB7_megsin; serpin family B member 7, megsin

    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
      63753057..63805370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451278.1 → XP_024307046.1  serpin B7 isoform X1

      UniProtKB/Swiss-Prot
      B4DUW8, F5GZC0, O75635, Q1ED45, Q3KPG4
      UniProtKB/TrEMBL
      A8K4B1
      Conserved Domains (1) summary
      cd19566
      Location:1 → 380
      serpinB7_megsin; serpin family B member 7, megsin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      63958110..64010475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319290.1 → XP_054175265.1  serpin B7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75635.1 GenPept UniProtKB/Swiss-Prot:O75635

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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