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    SERPINI2 serpin family I member 2 [ Homo sapiens (human) ]

    Gene ID: 5276, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SERPINI2provided by HGNC
    Official Full Name
    serpin family I member 2provided by HGNC
    Primary source
    HGNC:HGNC:8945
    See related
    Ensembl:ENSG00000114204 MIM:605587; AllianceGenome:HGNC:8945
    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
    MEPI; PI14; PANCPIN; TSA2004
    Summary
    The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Restricted expression toward pancreas (RPKM 124.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINI2 in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (167441933..167476963, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (170225816..170260848, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167159721..167194751, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:166832178-166832678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:166832679-166833179 Neighboring gene zinc finger B-box domain containing Neighboring gene long intergenic non-protein coding RNA 1327 Neighboring gene uncharacterized LOC105374197 Neighboring gene WD repeat domain 49 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66573 Neighboring gene NANOG hESC enhancer GRCh37_chr3:167370944-167371467 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:167371468-167371990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14866 Neighboring gene programmed cell death 10 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 8

    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. Isolation and characterization of a novel human pancreas-specific gene, pancpin, that is down-regulated in pancreatic cancer cells. Ozaki K, et al. Genes Chromosomes Cancer, 1998 Jul. PMID 9624529
    2. Suppression of breast cancer growth and metastasis by a serpin myoepithelium-derived serine proteinase inhibitor expressed in the mammary myoepithelial cells. Xiao G, et al. Proc Natl Acad Sci U S A, 1999 Mar 30. PMID 10097100, Free PMC Article
    3. Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort. Hysi PG, et al. Invest Ophthalmol Vis Sci, 2012 Jan 25. PMID 22110064
    4. Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia. Farfsing A, et al. Leukemia, 2009 Nov. PMID 19641524
    5. The role of serpins in the surveillance of the secretory pathway. Ragg H. Cell Mol Life Sci, 2007 Nov. PMID 17668148, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The findings indicate that SERPINI2 is a promising candidate for further investigations of the genetic susceptibility to myopia.
      Title: Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    Submit: New GeneRIF Correction

    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

    Potential readthrough

    Included gene: WDR49

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serpin I2
    Names
    myoepithelium-derived serine protease inhibitor
    myoepithelium-derived serine proteinase inhibitor
    pancreas-specific protein TSA2004
    peptidase inhibitor 14
    protease inhibitor 14
    serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2
    serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2
    serpin peptidase inhibitor, clade I (pancpin), member 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.

    mRNA and Protein(s)

    1. NM_001012303.3 → NP_001012303.2  serpin I2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC107311
      Consensus CDS
      CCDS3200.1
      UniProtKB/Swiss-Prot
      O75830
      UniProtKB/TrEMBL
      B4DDY9
      Related
      ENSP00000417692.1, ENST00000461846.5
      Conserved Domains (1) summary
      cd19576
      Location:23 → 392
      serpinI2_pancpin; serpin family I member 2, pancpin

    2. NM_001394327.1 → NP_001381256.1  serpin I2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC107311
      Consensus CDS
      CCDS3200.1
      UniProtKB/Swiss-Prot
      O75830
      UniProtKB/TrEMBL
      B4DDY9
      Conserved Domains (1) summary
      cd19576
      Location:23 → 392
      serpinI2_pancpin; serpin family I member 2, pancpin

    3. NM_006217.6 → NP_006208.1  serpin I2 precursor

      See identical proteins and their annotated locations for NP_006208.1

      Status: REVIEWED

      Source sequence(s)
      AC107311
      Consensus CDS
      CCDS3200.1
      UniProtKB/Swiss-Prot
      O75830
      UniProtKB/TrEMBL
      B4DDY9
      Related
      ENSP00000264677.4, ENST00000264677.9
      Conserved Domains (1) summary
      cd19576
      Location:23 → 392
      serpinI2_pancpin; serpin family I member 2, pancpin

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      167441933..167476963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      170225816..170260848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75830.1 GenPept UniProtKB/Swiss-Prot:O75830

    Gene LinkOut

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