SPINT2
entrez
10653
canonical
uniprot
O43291
canonical
ensembl
ENSG00000167642
resolver
ensp
ENSP00000301244
resolver
ensp
ENSP00000389788
resolver
genesymbol
SPINT2
resolver
genesymbol_syn
HAI2
resolver
genesymbol_syn
KOP
resolver
hgnc
HGNC:11247
resolver
uniprot
A0A140VJV6
resolver
uniprot
A8K667
resolver
uniprot
B4DLU1
resolver
uniprot
O00271
resolver
uniprot
O14895
resolver
uniprot
Q5TZQ3
resolver
uniprot
Q969E0
resolver
uniprot_entry
A0A140VJV6_HUMAN
resolver
uniprot_entry
SPIT2_HUMAN
resolver
uniprot_sec
A8K667
resolver
uniprot_sec
B4DLU1
resolver
uniprot_sec
O00271
resolver
uniprot_sec
O14895
resolver
uniprot_sec
Q5TZQ3
resolver
uniprot_sec
Q969E0
resolver
amino_acid_sequence
MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:20009592, ECO:0000269|PubMed:24142340, ECO:0000269|PubMed:28716867, ECO:0000269|PubMed:29575628, ECO:0000269|PubMed:30445423, ECO:0000269|PubMed:38271183}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase and PRSS8/prostasin in vitro (PubMed:28710277, PubMed:30445423). {ECO:0000269|PubMed:20977675, ECO:0000269|PubMed:28710277, ECO:0000269|PubMed:30445423, ECO:0000269|PubMed:9115294, ECO:0000269|PubMed:9346890}.
uniprot
proteins
mass_dalton
28228
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19185281
uniprot
proteins
pubmed
20009592
uniprot
proteins
pubmed
20977675
uniprot
proteins
pubmed
24142340
uniprot
proteins
pubmed
28710277
uniprot
proteins
pubmed
28716867
uniprot
proteins
pubmed
29575628
uniprot
proteins
pubmed
30445423
uniprot
proteins
pubmed
34562451
uniprot
proteins
pubmed
38271183
uniprot
proteins
pubmed
9115294
uniprot
proteins
pubmed
9346890
uniprot
proteins
pubmed
9434156
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28710277, ECO:0000269|PubMed:34562451}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:28710277}.
uniprot
proteins
transmembrane_region
TRANSMEM 198..218; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins