2. Gene
  3. SERPINB8 - serpin family B member 8 Gene

SERPINB8 - serpin family B member 8 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 8

种属: Homo sapiens

同用名: PI8; CAP2; PI-8; PSS5; C18orf53

基因 ID: 5271 | 基因类型: protein coding

关于 SERPINB8

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,970,081-64,019,779 (from NCBI)

This gene has 9 transcripts (splice variants), 410 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 7.4), gall bladder (RPKM 5.8) and 23 other tissues.

功能概要

由该基因编码的蛋白质是丝氨酸蛋白酶抑制剂 ov-serpin 家族的成员。编码的蛋白质由血小板产生，可以结合并抑制弗林蛋白酶的功能，弗林蛋白酶是一种参与血小板功能的丝氨酸蛋白酶。此外，已发现这种蛋白质可增强皮肤中细胞间粘附的机械稳定性，并且该基因的缺陷与剥脱性鱼鳞病的常染色体隐性形式有关。[RefSeq 提供，2017 年 1 月]

The protein encoded by this gene is a member of the ov-serpin family of serine Protease Inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of Furin, a serine Protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]

SERPINB8 基因产物(9)

mRNA Protein Name
NM_001031848.2 NP_001027018.1 serpin B8 isoform b
NM_001276490.2 NP_001263419.1 serpin B8 isoform c
NM_001348367.2 NP_001335296.1 serpin B8 isoform d
NM_001348368.2 NP_001335297.1 serpin B8 isoform e
NM_001348369.2 NP_001335298.1 serpin B8 isoform e
NM_001348370.2 NP_001335299.1 serpin B8 isoform f
NM_001366198.1 NP_001353127.1 serpin B8 isoform a
NM_002640.4 NP_002631.3 serpin B8 isoform a
NM_198833.2 NP_942130.1 serpin B8 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 protein binding IPI
IPI: 通过物理相互作用推断
8530382 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
8530382 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial cell-cell adhesion IMP
IMP: 通过突变表型推断
27476651 GOA
involved in negative regulation of endopeptidase activity IDA
IDA: 通过直接分析推断
8530382 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
8530382 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

SERPINB8 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (7 - 374)

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

serpin B8

cytoplasmic antiproteinase 2

关联疾病

疾病名称 别名
Peeling Skin Syndrome 5

PSS5
Exfoliative Ichthyosis

Ichthyosis Exfoliativa

Autosomal Recessive Exfoliative Ichthyosis
Peeling Skin Syndrome

Deciduous Skin

Familial Continuous Skin Peeling Syndrome

Idiopathic Deciduous Skin

Keratosis Exfoliativa Congenita

Pss

Peeling Skin Disease

Skin Peeling Syndrome

Familial Continuous Skin Peeling

Keratolysis Exfoliativa Congenita

Exfoliation Syndrome

Keratolysis Exfoliativa
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Chromosome 18q Deletion Syndrome

18q- Syndrome

Monosomy 18q

Deletion Of Long Arm Of Chromosome 18

Chromosome 18q- Syndrome

Deletion 18q

18q Deletion Syndrome

Distal 18q Deletion Syndrome

Chromosome 18 Long Arm Deletion Syndrome

Chromosome 18q Monosomy

Del Syndrome

Chromosome 18 Deletion Syndrome
Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency

Familial Apoc2 Deficiency

C-Ii Anapolipoproteinemia

Hyperlipoproteinemia, Type 1b

Hyperlipoproteinemia, Type Ib

Hyperlipoproteinemia Type I
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
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-RS12716 SERPINB8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SERPINB8 VGNC VGNC:80486
Mus musculus SERPINB8 MGD MGI:894657
Canis familiaris SERPINB8 VGNC VGNC:53976
Macaca mulatta SERPINB8 VGNC VGNC:77370
Rattus norvegicus SERPINB8 RGD RGD:1309833
Others SERPINB8 NCBI
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