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SPINT2 serine peptidase inhibitor, Kunitz type 2 [ Homo sapiens (human) ]

Gene ID: 10653, updated on 1-Jun-2020

Summary

Official Symbol
SPINT2provided by HGNC
Official Full Name
serine peptidase inhibitor, Kunitz type 2provided by HGNC
Primary source
HGNC:HGNC:11247
See related
Ensembl:ENSG00000167642 MIM:605124
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
PB; Kop; HAI2; DIAR3; HAI-2
Summary
This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Broad expression in colon (RPKM 172.2), thyroid (RPKM 135.2) and 22 other tissues See more
Orthologs

Genomic context

See SPINT2 in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38264573..38292615)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38755098..38783254)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene double PHD fingers 1 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14A Neighboring gene chromosome 19 open reading frame 33 Neighboring gene Yip1 interacting factor homolog B, membrane trafficking protein Neighboring gene potassium two pore domain channel subfamily K member 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
 
epithelial cell morphogenesis involved in placental branching IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of cell polarity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell motility IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kunitz-type protease inhibitor 2
Names
hepatocyte growth factor activator inhibitor type 2
serine protease inhibitor, Kunitz type, 2
testicular tissue protein Li 183

NCBI Reference Sequences (RefSeq)

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_013372.1 RefSeqGene

    Range
    5116..33158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166103.2NP_001159575.1  kunitz-type protease inhibitor 2 isoform b precursor

    See identical proteins and their annotated locations for NP_001159575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an alternate in-frame exon in the 5' coding region, compared to variant a. The resulting isoform (b) lacks an internal segment near the N-terminus, compared to isoform a.
    Source sequence(s)
    AC011479, AI199013, AK297154, AW275313
    Consensus CDS
    CCDS54261.1
    UniProtKB/Swiss-Prot
    O43291
    UniProtKB/TrEMBL
    A0A140VJV6
    Related
    ENSP00000389788.2, ENST00000454580.7
    Conserved Domains (1) summary
    pfam00014
    Location:75126
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  2. NM_021102.4NP_066925.1  kunitz-type protease inhibitor 2 isoform a precursor

    See identical proteins and their annotated locations for NP_066925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC011479, AW275313, BC001668
    Consensus CDS
    CCDS12510.1
    UniProtKB/Swiss-Prot
    O43291
    Related
    ENSP00000301244.5, ENST00000301244.12
    Conserved Domains (1) summary
    pfam00014
    Location:3788
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38264573..38292615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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