SPINK2 (serine peptidase inhibitor Kazal type 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6691
Gene name Gene Name - the full gene name approved by the HGNC.
Serine peptidase inhibitor Kazal type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPINK2
Synonyms (NCBI Gene) Gene synonyms aliases
HUSI-II, SPGF29
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs577163578 G>A,C Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT1384450 hsa-miR-346 CLIP-seq
MIRT1384451 hsa-miR-4727-5p CLIP-seq
MIRT1384452 hsa-miR-4769-3p CLIP-seq
MIRT1384453 hsa-miR-554 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IBA
GO:0001669 Component Acrosomal vesicle IDA 28554943
GO:0001669 Component Acrosomal vesicle IEA
GO:0001675 Process Acrosome assembly ISS
GO:0004866 Function Endopeptidase inhibitor activity TAS 8428671
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605753 11245 ENSG00000128040
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P20155
Protein name Serine protease inhibitor Kazal-type 2 (Acrosin-trypsin inhibitor) (Epididymis tissue protein Li 172) (HUSI-II)
Protein 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). Ma
PDB 2JXD , 6KBR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00050 Kazal_1 36 → 84 Kazal-type serine protease inhibitor domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
Sequence 
MALSVLRLALLLLAVTFAASLIPQFGLFSKYRTPNCSQYRLPGCPRHFNPVCGSDMSTYA
NECTLCMKIREGGHNIKIIRNGPC
Sequence length 84
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spermatogenic failure Spermatogenic failure 29 rs577163578 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Leukemia Myeloid Acute Associate 37298647, 39506790
Lymphoma B Cell Associate 15308563
Lymphoma T Cell Cutaneous Stimulate 15308563
Testicular Neoplasms Associate 31886233