Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SPINT2 Gene

Aliases for SPINT2 Gene

  • Serine Peptidase Inhibitor, Kunitz Type, 2 2 3 5
  • 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
  • Testicular Tissue Protein Li 183 3
  • DIAR3 3
  • PB 3

External Ids for SPINT2 Gene

Previous GeneCards Identifiers for SPINT2 Gene

  • GC19P039369
  • GC19P039146
  • GC19P043431
  • GC19P043447
  • GC19P038755
  • GC19P035203
  • GC19P038734

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 diarrhea 3, secretory sodium, congenital, syndromic and diarrhea. Among its related pathways are Signaling by GPCR and Signaling by MST1. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is TFPI.

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

Regulatory Elements for SPINT2 Gene

Enhancers for SPINT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPINT2 on UCSC Golden Path with GeneCards custom track

Promoters for SPINT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPINT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPINT2 Gene

Chromosome:
19
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

Genes around SPINT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 247
  • Glycosylation at Asn 57, Asn 94, Thr 101, Ser 102, Ser 108, Ser 109, and Ser 112
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SPINT2

No data available for DME Specific Peptides for SPINT2 Gene

Domains & Families for SPINT2 Gene

Protein Domains for SPINT2 Gene

Suggested Antigen Peptide Sequences for SPINT2 Gene

Graphical View of Domain Structure for InterPro Entry

O43291

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for SPINT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SPINT2 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for SPINT2 Gene

Pathways & Interactions for SPINT2 Gene

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

Pathways by source for SPINT2 Gene

2 Reactome pathways for SPINT2 Gene
1 GeneGo (Thomson Reuters) pathway for SPINT2 Gene

Gene Ontology (GO) - Biological Process for SPINT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IEA,TAS 9115294
genes like me logo Genes that share ontologies with SPINT2: view

No data available for SIGNOR curated interactions for SPINT2 Gene

Drugs & Compounds for SPINT2 Gene

(1) Drugs for SPINT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SPINT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 differential expression in normal tissues according to GTEx for SPINT2 Gene

This gene is overexpressed in Pituitary (x4.0).

Protein differential expression in normal tissues from HIPED for SPINT2 Gene

This gene is overexpressed in Breast (20.7), Amniocyte (18.3), and Urine (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SPINT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for SPINT2 Gene

Orthologs for SPINT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPINT2 35
  • 82 (n)
  • 74.8 (a)
SPINT2 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINT2 35
  • 84.07 (n)
  • 80.09 (a)
SPINT2 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spint2 35
  • 77.51 (n)
  • 70.63 (a)
Spint2 16
Spint2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spint2 35
  • 76.8 (n)
  • 68.8 (a)
oppossum
(Monodelphis domestica)
Mammalia SPINT2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPINT2 36
  • 43 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPINT2 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPINT2 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spint2 35
  • 51.22 (n)
  • 41.67 (a)
zebrafish
(Danio rerio)
Actinopterygii spint2 35
  • 52.8 (n)
  • 42.24 (a)
lrp11 36
  • 8 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3864 36
  • 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

(6) 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
rs11548457 - 38,291,845(+) TGGTG(C/G)TTCTG reference, missense
VAR_058718 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3)
rs7259936 -- 38,282,338(+) AAGCA(C/T)CCTGT intron-variant
rs12978260 -- 38,276,572(+) aggag(C/G)cggag intron-variant
rs12979618 -- 38,269,930(+) CATGT(G/T)GGCCA intron-variant

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

Variation tolerance for SPINT2 Gene

Residual Variation Intolerance Score: 73.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINT2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINT2 Gene

Disorders for SPINT2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPINT2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 3, secretory sodium, congenital, syndromic
  • congenital syndromic diarrhea 3, secretory sodium
diarrhea
  • diarrhea of presumed infectious origin
secretory diarrhea
tufting enteropathy
  • congenital enteropathy
c1 inhibitor deficiency
  • quincke edema
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SPINT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINT2
genes like me logo Genes that share disorders with SPINT2: view

No data available for Genatlas for SPINT2 Gene

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 67
  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 23
  3. Hepatocyte growth factor activator inhibitor-2 (HAI-2) is a favorable prognosis marker and inhibits cell growth through the apoptotic pathway in cervical cancer. (PMID: 18689863) Nakamura K. … Hiramatsu Y. (Ann. Oncol. 2009) 3 23
  4. HAI-2 is epigenetically downregulated in human hepatocellular carcinoma, and its Kunitz domain type 1 is critical for anti-invasive functions. (PMID: 19107935) Tung E.K. … Ng I.O. (Int. J. Cancer 2009) 3 23
  5. Expression of hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) in ovarian cancer. (PMID: 19148468) Nakamura K. … Hiramatsu Y. (Int. J. Oncol. 2009) 3 23

Products for SPINT2 Gene

Sources for SPINT2 Gene

Content