SPINT2

Protein identityUniProt · HPA

UniProt accession

O43291

Gene

SPINT2

Ensembl

ENSG00000167642

Chromosome

19

Canonical length

252 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Golgi apparatus,Vesicles

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

252 residues, UniProt reviewed canonical sequence.

>O43291|SPINT2
     1  MAQLCGLRRS RAFLALLGSL LLSGVLAADR ERSIHDFCLV SKVVGRCRAS MPRWWYNVTD
    61  GSCQLFVYGG CDGNSNNYLT KEECLKKCAT VTENATGDLA TSRNAADSSV PSAPRRQDSE
   121  DHSSDMFNYE EYCTANAVTG PCRASFPRWY FDVERNSCNN FIYGGCRGNK NSYRSEEACM
   181  LRCFRQQENP PLPLGSKVVV LAGLFVMVLI LFLGASMVYL IRVARRNQER ALRTVWSSGD
   241  DKEQLVKNTY VL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPINT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

475 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPINT2.

Disease | AllUniProt

Conditions SPINT2 is implicated in, by any mechanism.

• Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) MIM:270420

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 213 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital secretory sodium diarrhea 3
• Hepatocellular carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.98

gnomAD pLI

0

gnomAD missense Z

1

DepMap mean gene effect

-0.17

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• basement membrane organization
• cellular response to BMP stimulus
• epithelial cell morphogenesis involved in placental branching
• establishment or maintenance of cell polarity
• negative regulation of cell motility
• negative regulation of cell-cell adhesion
• negative regulation of neural precursor cell proliferation
• neural tube closure

Molecular functions

• endopeptidase inhibitor activity
• serine-type endopeptidase inhibitor activity

Cellular components

• cytoplasm
• extracellular region
• Golgi apparatus
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Pancreatic trypsin inhibitor Kunitz domain
• Proteinase inhibitor I2, Kunitz, conserved site
• Pancreatic trypsin inhibitor Kunitz domain superfamily
• Kunitz/Bovine pancreatic trypsin inhibitor domain

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Disulfide bond
• Glycoprotein
• Membrane
• Protease inhibitor
• Repeat
• Serine protease inhibitor
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SPINT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TMPRSS13
• SLC30A7