SPINK2 - serine peptidase inhibitor Kazal type 2 Gene

Also Known as SPGF29; HUSI-II

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6691

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	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in spermatid development	IMP IMP: Inferred from mutant phenotype	28554943	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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

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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SPINK2	P20155	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	25416956
Intra	SPINK2	P20155	KLK4	Homo sapiens	Q9Y5K2	SPR	31391482
Intra	SPINK2	P20155	RARRES1	Homo sapiens	P49788	Confocal	31886233
Intra	SPINK2	P20155	RARRES1	Homo sapiens	P49788	Anti Bait CoIP	31886233
Intra	SPINK2	P20155	KRTAP5-9	Homo sapiens	P26371	Validated Y2H	25416956
Intra	SPINK2	P20155	KRTAP5-9	Homo sapiens	P26371	Y2H Array	25416956
Intra	SPINK2	P20155	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	SPINK2	P20155	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	SPINK2	P20155	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	SPINK2	P20155	GRN	Homo sapiens	P28799	Validated Y2H	32814053
Intra	SPINK2	P20155	GRN	Homo sapiens	P28799	Y2H Array	32814053
Intra	SPINK2	P20155	GRN	Homo sapiens	P28799	Y2H Pooling	32814053
Intra	SPINK2	P20155	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	SPINK2	P20155	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SPINK2 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P76653	SPINK2 Protein, Human (HEK293, Fc)	P20155/NP_066937.1 (Q24-C84)	≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

阻害性抗体 (1)

製品番号	製品名	製品効果	純度	Phase
HY-P991676	Eflumenibep alfa	Inhibitor	97.52%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13680	SPINK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20600	Spink2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27108	Spink2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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