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  2. SPINK2 - serine peptidase inhibitor Kazal type 2 Gene

SPINK2 - serine peptidase inhibitor Kazal type 2 Gene

Homo sapiens

Also known as SPGF29; HUSI-II

Gene ID: 6691 | Gene type: protein coding

About SPINK2

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,809,860-56,821,869 (from NCBI)

This gene has 5 transcripts (splice variants), 90 orthologues, 5 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 57.3).

Summary

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]

SPINK2 Products(6)

mRNA Protein Name
NM_001271718.2 NP_001258647.1 serine protease inhibitor Kazal-type 2 isoform 1 precursor
NM_001271719.2 NP_001258648.1 serine protease inhibitor Kazal-type 2 isoform 3 precursor
NM_001271720.2 NP_001258649.1 serine protease inhibitor Kazal-type 2 isoform 4 precursor
NM_001271721.2 NP_001258650.1 serine protease inhibitor Kazal-type 2 isoform 5 precursor
NM_001271722.2 NP_001258651.1 serine protease inhibitor Kazal-type 2 isoform 6 precursor
NM_021114.4 NP_066937.1 serine protease inhibitor Kazal-type 2 isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in spermatid development IMP
IMP: Inferred from mutant phenotype
28554943 GOA
Cellular Component GO Annotation Evidence Reference Source
located in acrosomal vesicle IDA
IDA: Inferred from direct assay
28554943 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPINK2 Protein Structure

Kazal_1

Kazal_1: Kazal-type serine protease inhibitor domain (36 - 84)

  • 0
  • 84 a.a.
Protein Preferred Names Protein Names

serine protease inhibitor Kazal-type 2

epididymis tissue protein Li 172

SPINK2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SPINK2 P20155 ADAMTSL4 Homo sapiens Q6UY14-3 25416956
Intra
SPINK2 P20155 KLK4 Homo sapiens Q9Y5K2
SPR
31391482
Intra
SPINK2 P20155 RARRES1 Homo sapiens P49788 31886233
Intra
SPINK2 P20155 RARRES1 Homo sapiens P49788 31886233
Intra
SPINK2 P20155 KRTAP5-9 Homo sapiens P26371 25416956
Intra
SPINK2 P20155 KRTAP5-9 Homo sapiens P26371 25416956
Intra
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
Intra
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
Intra
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
Intra
SPINK2 P20155 GRN Homo sapiens P28799 32814053
Intra
SPINK2 P20155 GRN Homo sapiens P28799 32814053
Intra
SPINK2 P20155 GRN Homo sapiens P28799 32814053
Intra
SPINK2 P20155 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
SPINK2 P20155 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SPINK2 Proteins

Cat. No. Product Name Accession Purity
HY-P76653 SPINK2 Protein, Human (HEK293, Fc) P20155/NP_066937.1 (Q24-C84) ≥95%

Related Diseases

Diseases Alias
Spermatogenic Failure 29

SPGF29

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Infertility
Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total

Spermatogenic Failure, Y-Linked, 2

SPGFY2

Spermatogenic Failure, Nonobstructive, Y-Linked

Y-Linked Spermatogenic Failure 2

Azoospermia, Nonobstructive, Y-Linked

Oligozoospermia, Nonobstructive, Y-Linked

Oligospermia, Nonobstructive, Y-Linked

Spermatogenic Arrest, Y-Linked

Nonobstructive Y-Linked Spermatogenic Failure

Spermatogenic Failure Y-Linked 2

Azoospermia Non-Obstructive Y-Linked

Non-Obstructive Azoospermia And Infertility

Oligospermia Non-Obstructive Y-Linked

Oligozoospermia Non-Obstructive Y-Linked

Spermatogenic Arrest Y-Linked

Spermatogenic Failure Nonobstructive Y-Linked

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SPINK2 MGD MGI:1917232
Bos taurus SPINK2 VGNC VGNC:56756
Rattus norvegicus SPINK2 RGD RGD:1302956
Canis familiaris SPINK2 VGNC VGNC:56077
Macaca mulatta SPINK2 VGNC VGNC:107200
Others SPINK2 NCBI