Spink2 serine peptidase inhibitor, Kazal type 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spink2provided by MGI
Official Full Name: serine peptidase inhibitor, Kazal type 2provided by MGI
Primary source: MGI:MGI:1917232
See related: Ensembl:ENSMUSG00000053030 AllianceGenome:MGI:1917232
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HUSI-II; 1700007F22Rik
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Involved in acrosome assembly. Acts upstream of or within several processes, including male germ cell proliferation; negative regulation of serine-type endopeptidase activity; and seminiferous tubule development. Located in acrosomal vesicle and neuron projection. Is expressed in intestine; male reproductive gland or organ; oviduct; skin; and tongue. Human ortholog(s) of this gene implicated in spermatogenic failure 29. Orthologous to human SPINK2 (serine peptidase inhibitor Kazal type 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 405.6) See more
Orthologs: human all
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Genomic context

Location:: 5 C3.3; 5 41.53 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (77352953..77364106, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (77205106..77216258, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of different variants of Spink2 in D407 tissue culture cells increases their susceptibility to the apoptosis-inducing agent staurosporine in a manner consistent with the differential susceptibility between the DBA/2J and BALB/cByJ strains
Title: Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.
SPINK2 is required for maintaining normal spermatogenesis and potentially regulates serine protease-mediated apoptosis in male germ cells.
Title: Impaired spermatogenesis and fertility in mice carrying a mutation in the Spink2 gene expressed predominantly in testes.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male germ cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within seminiferous tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatid development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatid development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine protease inhibitor Kazal-type 2

Names: acrosin-trypsin inhibitor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001289764.2 → NP_001276693.2 serine protease inhibitor Kazal-type 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the isoform 1.

Source sequence(s)

AC165975

Conserved Domains (1) summary

pfam00050
Location:26 → 74

Kazal_1; Kazal-type serine protease inhibitor domain
NM_001289767.1 → NP_001276696.1 serine protease inhibitor Kazal-type 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC165975

Consensus CDS

CCDS80306.1

UniProtKB/TrEMBL

D3Z3X9

Related

ENSMUSP00000113823.2, ENSMUST00000121825.2

Conserved Domains (1) summary

pfam00050
Location:11 → 59

Kazal_1; Kazal-type serine protease inhibitor domain
NM_001289768.1 → NP_001276697.1 serine protease inhibitor Kazal-type 2 isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and uses an alternate splice site in the central coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 4, which is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AK005709, AV380723, DV068802

Consensus CDS

CCDS80307.1

UniProtKB/TrEMBL

D3YTY0

Related

ENSMUSP00000112806.2, ENSMUST00000120429.8
NM_183284.3 → NP_899107.1 serine protease inhibitor Kazal-type 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_899107.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which is longer and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK005709, AV380723, DV068802

Consensus CDS

CCDS39121.1

UniProtKB/Swiss-Prot

D3Z3X9, Q5M8S4, Q8BMY7

Related

ENSMUSP00000067117.5, ENSMUST00000065216.11

Conserved Domains (1) summary

pfam00050
Location:38 → 86

Kazal_1; Kazal-type serine protease inhibitor domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

77352953..77364106 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011249564.4 → XP_011247866.1 serine protease inhibitor Kazal-type 2 isoform X1

Conserved Domains (1) summary

pfam00050
Location:40 → 88

Kazal_1; Kazal-type serine protease inhibitor domain