SPINK2 gene

serine peptidase inhibitor, Kazal type 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

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.

From NCBI Gene:

  • Spermatogenic failure 29

From UniProt:

Spermatogenic failure 29 (SPGF29): 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. [MIM:618091]

Cytogenetic Location: 4q12, which is the long (q) arm of chromosome 4 at position 12

Molecular Location: base pairs 56,809,860 to 56,822,210 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 4q12, which is the long (q) arm of chromosome 4 at position 12
  • HUSI-II
  • SPGF29