2. Gene
  3. SERPINB6 - serpin family B member 6 Gene

SERPINB6 - serpin family B member 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：serpin 家族 B 成员 6

种属: Homo sapiens

同用名: CAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057

基因 ID: 5269 | 基因类型: protein coding

关于 SERPINB6

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:2,948,159-2,971,793 (from NCBI)

This gene has 25 transcripts (splice variants), 87 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 25.4), testis (RPKM 22.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是 serpin (丝氨酸蛋白酶抑制剂) 超家族和卵清蛋白 (ov) -serpin 亚家族的成员。它最初被发现是一种胎盘凝血酶抑制剂。发现小鼠同系物在内耳的毛细胞中表达。该基因的突变与非综合征性进行性听力损失有关，表明该丝氨酸蛋白酶抑制剂在内耳中起着重要作用，可防止应激期间溶酶体内容物泄漏，而这种保护作用的丧失会导致细胞死亡和感音神经性听力损失。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2010 年 9 月]

The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental Thrombin Inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

SERPINB6 基因产物(11)

mRNA Protein Name
NM_001195291.3 NP_001182220.2 serpin B6 isoform b
NM_001271822.2 NP_001258751.1 serpin B6 isoform c
NM_001271823.2 NP_001258752.1 serpin B6 isoform d
NM_001271824.2 NP_001258753.1 serpin B6 isoform a
NM_001271825.2 NP_001258754.1 serpin B6 isoform a
NM_001297699.2 NP_001284628.1 serpin B6 isoform a
NM_001297700.2 NP_001284629.1 serpin B6 isoform a
NM_001374515.1 NP_001361444.1 serpin B6 isoform b
NM_001374516.1 NP_001361445.1 serpin B6 isoform a
NM_001374517.1 NP_001361446.1 serpin B6 isoform e
NM_004568.6 NP_004559.4 serpin B6 isoform a
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 protease binding IPI
IPI: 通过物理相互作用推断
14670919 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
17761692 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to osmotic stress IMP
IMP: 通过突变表型推断
20451170 GOA
involved in negative regulation of endopeptidase activity IDA
IDA: 通过直接分析推断
17761692 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
20451170 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14670919 GOA
NOT located in nucleus IDA
IDA: 通过直接分析推断
14670919 GOA
part of serine protease inhibitor complex IDA
IDA: 通过直接分析推断
17761692 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

SERPINB6 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (7 - 376)

  • 0
  • 100
  • 200
  • 300
  • 376 a.a.
蛋白主名 其他名称

serpin B6

cytoplasmic antiproteinase

重组 SERPINB6 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70970 Serpin B6 Protein, Human (Trx-His) P35237 (M1-P376) ≥95%
HY-P76640 Serpin B6 Protein, Human (sf9, His) P35237 (D2-P376) ≥95%

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 91

DFNB91

Autosomal Recessive Nonsyndromic Deafness 91

Autosomal Recessive Deafness 91

Deafness, Autosomal Recessive, 91

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91

Deafness, Autosomal Recessive, Type 91
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Acrorenal Syndrome
Salmonellosis

Salmonella Infections

Salmonella Infection
Paratyphoid Fever

Paratyphoid B Fever

Paratyphoid C Fever

Paratyphoid Fever A

Paratyphoid Fever B

Paratyphoid Fever C

Paratyphoid

Paratyphoid A

Paratyphoid A Fever

Paratyphoid B

Paratyphoid C

Infection Due To Salmonella Paratyphi
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12714 SERPINB6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SERPINB6 VGNC VGNC:58333
Macaca mulatta SERPINB6 VGNC VGNC:83464
Felis catus SERPINB6 VGNC VGNC:97621
Rattus norvegicus SERPINB6 RGD RGD:735108
Others SERPINB6 NCBI
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