SPINK2
entrez
6691
canonical
uniprot
P20155
canonical
ensembl
ENSG00000128040
resolver
ensp
ENSP00000248701
resolver
ensp
ENSP00000423858
resolver
ensp
ENSP00000425961
resolver
ensp
ENSP00000477722
resolver
enst
ENST00000248701
resolver
enst
ENST00000504762
resolver
enst
ENST00000506738
resolver
enst
ENST00000618802
resolver
genesymbol
SPINK2
resolver
hgnc
HGNC:11245
resolver
uniprot
A0A087WTA9
resolver
uniprot
D6RC51
resolver
uniprot
D6RI10
resolver
uniprot
Q6FGH2
resolver
uniprot_entry
A0A087WTA9_HUMAN
resolver
uniprot_entry
D6RC51_HUMAN
resolver
uniprot_entry
D6RI10_HUMAN
resolver
uniprot_entry
ISK2_HUMAN
resolver
uniprot_sec
Q6FGH2
resolver
amino_acid_sequence
MALSVLRLALLLLAVTFAASLIPQFGLFSKYRTPNCSQYRLPGCPRHFNPVCGSDMSTYANECTLCMKIREGGHNIKIIRNGPC
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 29 (SPGF29) [MIM:618091]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction. {ECO:0000269|PubMed:28554943}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin. {ECO:0000250|UniProtKB:Q8BMY7, ECO:0000269|PubMed:19422058, ECO:0000269|PubMed:28554943}.
uniprot
proteins
mass_dalton
9291
uniprot
proteins
mutagenesis
MUTAGEN 45; /note="P->A: No effect on inhibitory activity towards trypsin."; /evidence="ECO:0000269|PubMed:19422058"; MUTAGEN 46; /note="R->A: Loss of inhibitory activity towards trypsin."; /evidence="ECO:0000269|PubMed:19422058"; MUTAGEN 47; /note="H->A: Reduces inhibitory activity towards trypsin."; /evidence="ECO:0000269|PubMed:19422058"; MUTAGEN 48; /note="F->A: Reduces inhibitory activity towards trypsin."; /evidence="ECO:0000269|PubMed:19422058
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1704312
uniprot
proteins
pubmed
19422058
uniprot
proteins
pubmed
20736409
uniprot
proteins
pubmed
2226783
uniprot
proteins
pubmed
28554943
uniprot
proteins
pubmed
8428671
uniprot
proteins
sequence_length
84
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:28554943}.
uniprot
proteins