1. Gene
  2. SPINK2 - serine peptidase inhibitor Kazal type 2 Gene

SPINK2 - serine peptidase inhibitor Kazal type 2 Gene

中文名称:丝氨酸肽酶抑制因子 Kazal 2 型

种属: Homo sapiens

同用名: SPGF29; HUSI-II

基因 ID: 6691 | 基因类型: protein coding

关于 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).

功能概要

该基因编码 Kazal 型丝氨酸蛋白酶抑制剂 (SPINK) 家族的成员。编码的蛋白质在生殖道中充当胰蛋白酶和顶体蛋白抑制剂,并定位于精子中。该蛋白与淋巴瘤的进展有关。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in spermatid development IMP
IMP: 通过突变表型推断
28554943 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in acrosomal vesicle IDA
IDA: 通过直接分析推断
28554943 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SPINK2 蛋白结构

Kazal_1

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

  • 0
  • 84 a.a.
蛋白主名 其他名称

serine protease inhibitor Kazal-type 2

epididymis tissue protein Li 172

SPINK2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SPINK2 P20155 ADAMTSL4 Homo sapiens Q6UY14-3 25416956
种属内
SPINK2 P20155 KLK4 Homo sapiens Q9Y5K2
SPR
31391482
种属内
SPINK2 P20155 RARRES1 Homo sapiens P49788 31886233
种属内
SPINK2 P20155 RARRES1 Homo sapiens P49788 31886233
种属内
SPINK2 P20155 KRTAP5-9 Homo sapiens P26371 25416956
种属内
SPINK2 P20155 KRTAP5-9 Homo sapiens P26371 25416956
种属内
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
种属内
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
种属内
SPINK2 P20155 WFS1 Homo sapiens O76024 32814053
种属内
SPINK2 P20155 GRN Homo sapiens P28799 32814053
种属内
SPINK2 P20155 GRN Homo sapiens P28799 32814053
种属内
SPINK2 P20155 GRN Homo sapiens P28799 32814053
种属内
SPINK2 P20155 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
种属内
SPINK2 P20155 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SPINK2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76653 SPINK2 Protein, Human (HEK293, Fc) P20155/NP_066937.1 (Q24-C84) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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