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

Summary

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
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

Genomic context

Location:: 3q26.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (167441789..167474132, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (167159577..167196732, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

G16564 (e-PCR)
- UniSTS:5167

D3S3673 (e-PCR), detects polymorphism
- UniSTS:77915

Homology

Homologs of the SERPINI2 gene: The SERPINI2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 145 organisms have orthologs with human gene SERPINI2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
extracellular exosome	HDA more info	PubMed
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: serpin I2

Names: myoepithelium-derived serine protease 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)

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

See identical proteins and their annotated locations for NP_001012303.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK293391, BC027859, FY212742

Consensus CDS

CCDS75047.1

UniProtKB/Swiss-Prot

O75830

UniProtKB/TrEMBL

A0A0C4DGW9, B4DDY9

Related

ENSP00000481699.1, ENST00000616363.4

Conserved Domains (1) summary

cl00137
Location:34 → 415

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 ...
NM_006217.4 → NP_006208.1 serpin I2 isoform 2 precursor

See identical proteins and their annotated locations for NP_006208.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AB006423, AK293391, FY211025

Consensus CDS

CCDS3200.1

UniProtKB/Swiss-Prot

O75830

UniProtKB/TrEMBL

B4DDY9

Related

ENSP00000264677.4, ENST00000264677.8

Conserved Domains (1) summary

cl00137
Location:24 → 405

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 ...