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

    Gene ID: 10653, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:11247
    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
    NEW
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    Genomic context

    See SPINT2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38264573..38292615)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41066744..41094785)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38755213..38783255)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:38707788-38708987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38709595-38710094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10563 Neighboring gene double PHD fingers 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38718119-38718889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38729145-38729644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38734884-38735760 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38746806-38746993 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38751829-38752766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38752767-38753703 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38753844-38754761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10565 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38785153-38785654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38788840-38789473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38791160-38791852 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38792217-38792464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794013-38794750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794751-38795488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38795489-38796226 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38798184-38798353 Neighboring gene chromosome 19 open reading frame 33 Neighboring gene Yip1 interacting factor homolog B, membrane trafficking protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38810313-38810936 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

    Clone Names

    • FLJ45571

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    kunitz-type protease inhibitor 2
    Names
    HGF activator inhibitor 2
    Kunitz domain containing protein overexpressed in pancreatic cancer
    hepatocyte growth factor activator inhibitor type 2
    hepatocyte growth factor activator inhibitor-2
    serine protease inhibitor, Kunitz type, 2
    testicular tissue protein Li 183

    NCBI Reference Sequences (RefSeq)

    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_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/TrEMBL
      A0A140VJV6, K7EM91
      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
      A8K667, B4DLU1, O00271, O14895, O43291, Q5TZQ3, Q969E0
      UniProtKB/TrEMBL
      Q6LEU8
      Related
      ENSP00000301244.5, ENST00000301244.12
      Conserved Domains (1) summary
      pfam00014
      Location:3788
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41066744..41094785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)