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

Gene ID: 5276, updated on 5-Mar-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
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Genomic context

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Location:
3q26.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (167441933..167476963, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (170225816..170260848, complement)
105.20220307 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
  • 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. 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
  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. 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
  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

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)

Genotypes

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_2023_10

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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