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Aliases for SPINT2 Gene

Aliases for SPINT2 Gene

  • Serine Peptidase Inhibitor, Kunitz Type, 2 2 3
  • Placental Bikunin 2 3 4
  • Hepatocyte Growth Factor Activator Inhibitor Type 2 3 4
  • Serine Protease Inhibitor, Kunitz Type, 2 2 3
  • HAI-2 3 4
  • HAI2 3 4
  • Kop 3 4
  • Kunitz-Type Protease Inhibitor 2 3
  • Placental) 6
  • Bikunin 6
  • DIAR3 3
  • PB 3

External Ids for SPINT2 Gene

Summaries for SPINT2 Gene

Entrez Gene Summary for SPINT2 Gene

  • 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]

GeneCards Summary for SPINT2 Gene

SPINT2 (Serine Peptidase Inhibitor, Kunitz Type, 2) is a Protein Coding gene. Diseases associated with SPINT2 include secretory diarrhea and diarrhea 3, secretory sodium, congenital, syndromic. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is LRP11.

UniProtKB/Swiss-Prot for SPINT2 Gene

  • Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa

Gene Wiki entry for SPINT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINT2 Gene

Genomics for SPINT2 Gene

Genomic Location for SPINT2 Gene

Start:
38,244,035 bp from pter
End:
38,292,614 bp from pter
Size:
48,580 bases
Orientation:
Plus strand

Genomic View for SPINT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPINT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINT2 Gene

Regulatory Elements for SPINT2 Gene

Proteins for SPINT2 Gene

  • Protein details for SPINT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43291-SPIT2_HUMAN
    Recommended name:
    Kunitz-type protease inhibitor 2
    Protein Accession:
    O43291
    Secondary Accessions:
    • A8K667
    • B4DLU1
    • O00271
    • O14895
    • Q5TZQ3
    • Q969E0

    Protein attributes for SPINT2 Gene

    Size:
    252 amino acids
    Molecular mass:
    28228 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPINT2 Gene

    Alternative splice isoforms for SPINT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPINT2 Gene

Proteomics data for SPINT2 Gene at MOPED

Post-translational modifications for SPINT2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys242 and Lys247
  • Glycosylation at Asn57, Asn94, Thr101, Ser102, Ser108, Ser109, and Ser112

No data available for DME Specific Peptides for SPINT2 Gene

Domains for SPINT2 Gene

Protein Domains for SPINT2 Gene

UniProtKB/Swiss-Prot:

SPIT2_HUMAN
Domain:
  • This inhibitor contains two inhibitory domains:
    • O43291
  • Contains 2 BPTI/Kunitz inhibitor domains.:
    • O43291
genes like me logo Genes that share domains with SPINT2: view

No data available for Gene Families for SPINT2 Gene

Function for SPINT2 Gene

Molecular function for SPINT2 Gene

GENATLAS Biochemistry: serine protease inhibitor,Kunitz-type 2,expressed at high level in placenta and brain and at lower levels in brain,lung,kidney with an endogenous soluble form called placental likumin,inhibiting trypsin,plasma kallikrein and plasmin,overexpressed in pancreatic cancer
UniProtKB/Swiss-Prot Function: Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa

Gene Ontology (GO) - Molecular Function for SPINT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 9115294
GO:0004867 serine-type endopeptidase inhibitor activity IDA 19185281
genes like me logo Genes that share ontologies with SPINT2: view

Phenotypes for SPINT2 Gene

genes like me logo Genes that share phenotypes with SPINT2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SPINT2 Gene

Localization for SPINT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINT2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPINT2 Gene COMPARTMENTS Subcellular localization image for SPINT2 gene
Compartment Confidence
extracellular 4
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPINT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9346890
GO:0005737 cytoplasm IDA 11606055
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPINT2: view

Pathways for SPINT2 Gene

genes like me logo Genes that share pathways with SPINT2: view

Pathways by source for SPINT2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SPINT2 Gene

Gene Ontology (GO) - Biological Process for SPINT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 9434156
GO:0010951 negative regulation of endopeptidase activity TAS 9115294
GO:0022408 negative regulation of cell-cell adhesion IDA 19592578
GO:2000146 negative regulation of cell motility IDA 19592578
genes like me logo Genes that share ontologies with SPINT2: view

Compounds for SPINT2 Gene

(2) Novoseek inferred chemical compound relationships for SPINT2 Gene

Compound -log(P) Hits PubMed IDs
serine 81.3 85
5-aza-2deoxycytidine 66.5 2
genes like me logo Genes that share compounds with SPINT2: view

Transcripts for SPINT2 Gene

Unigene Clusters for SPINT2 Gene

Serine peptidase inhibitor, Kunitz type, 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPINT2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for SPINT2 Gene

GeneLoc Exon Structure for
SPINT2
ECgene alternative splicing isoforms for
SPINT2

Expression for SPINT2 Gene

mRNA expression in normal human tissues for SPINT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINT2 Gene

This gene is overexpressed in Pituitary (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPINT2 Gene

SOURCE GeneReport for Unigene cluster for SPINT2 Gene Hs.31439

mRNA Expression by UniProt/SwissProt for SPINT2 Gene

O43291-SPIT2_HUMAN
Tissue specificity: Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea
genes like me logo Genes that share expressions with SPINT2: view

Orthologs for SPINT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINT2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPINT2 36
  • 82 (n)
  • 74.8 (a)
SPINT2 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINT2 36
  • 84.07 (n)
  • 80.09 (a)
SPINT2 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spint2 36
  • 77.51 (n)
  • 70.63 (a)
Spint2 16
Spint2 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPINT2 37
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPINT2 37
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spint2 36
  • 76.8 (n)
  • 68.8 (a)
lizard
(Anolis carolinensis)
Reptilia SPINT2 37
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spint2 36
  • 51.22 (n)
  • 41.67 (a)
zebrafish
(Danio rerio)
Actinopterygii lrp11 37
  • 8 (a)
ManyToMany
spint2 36
  • 52.8 (n)
  • 42.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3864 37
  • 7 (a)
OneToMany
Species with no ortholog for SPINT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPINT2 Gene

ENSEMBL:
Gene Tree for SPINT2 (if available)
TreeFam:
Gene Tree for SPINT2 (if available)

Paralogs for SPINT2 Gene

Paralogs for SPINT2 Gene

Selected SIMAP similar genes for SPINT2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SPINT2: view

Variants for SPINT2 Gene

Sequence variations from dbSNP and Humsavar for SPINT2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs870218 -- 38,280,535(+) AGCAC(A/G)AGGGC intron-variant
rs1006140 -- 38,288,275(+) TCCCC(A/G)CCCAC intron-variant
rs1046773 -- 38,264,766(+) CGGAC(C/G)CTCCC utr-variant-5-prime
rs1047519 -- 38,292,310(+) TCACA(A/G)AAGTG utr-variant-3-prime
rs1047592 -- 38,292,390(+) GCATT(C/T)TGAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SPINT2 Gene

Variant ID Type Subtype PubMed ID
nsv833821 CNV Loss 17160897
nsv833822 CNV Loss 17160897

Relevant External Links for SPINT2 Gene

HapMap Linkage Disequilibrium report
SPINT2
Human Gene Mutation Database (HGMD)
SPINT2

Disorders for SPINT2 Gene

(1) OMIM Diseases for SPINT2 Gene (605124)

UniProtKB/Swiss-Prot

SPIT2_HUMAN
  • Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) [MIM:270420]: A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. {ECO:0000269 PubMed:19185281}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for SPINT2 Gene

Disease -log(P) Hits PubMed IDs
carcinoma squamous cell 31.2 3
metastasis 23.2 6
carcinoma renal cell 20.6 2
tumors 20 14
pancreatic cancer 15.1 2
genes like me logo Genes that share disorders with SPINT2: view

Publications for SPINT2 Gene

  1. Purification and cloning of hepatocyte growth factor activator inhibitor type 2, a Kunitz-type serine protease inhibitor. (PMID: 9346890) Kawaguchi T. … Kitamura N. (J. Biol. Chem. 1997) 2 3 4 23
  2. Identification and cloning of human placental bikunin, a novel serine protease inhibitor containing two Kunitz domains. (PMID: 9115294) Marlor C.W. … Tamburini P.P. (J. Biol. Chem. 1997) 2 3 4 23
  3. Cloning of a new Kunitz-type protease inhibitor with a putative transmembrane domain overexpressed in pancreatic cancer. (PMID: 9434156) Mueller-Pillasch F. … Gress T.M. (Biochim. Biophys. Acta 1998) 3 4 23
  4. Identification of hepatocyte growth factor activator inhibitor type 2 (HAI-2)-related small peptide (H2RSP): its nuclear localization and generation of chimeric mRNA transcribed from both HAI-2 and H2RSP genes. (PMID: 11606055) Itoh H.K. … Koono M.R. (Biochem. Biophys. Res. Commun. 2001) 3 23
  5. Differential expression of bikunin (HAI-2/PB), a proposed mediator of glioma invasion, by demethylation treatment. (PMID: 14558597) Schuster J.M. … Nelson P.S. (J. Neurooncol. 2003) 3 23

Products for SPINT2 Gene

Sources for SPINT2 Gene

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