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  2. WFDC12 - WAP four-disulfide core domain 12 Gene

WFDC12 - WAP four-disulfide core domain 12 Gene

中文名称:WAP 四二硫核心结构域 12

种属: Homo sapiens

同用名: WAP2; SWAM2; C20orf122; dJ211D12.4

基因 ID: 128488 | 基因类型: protein coding

关于 WFDC12

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,123,425-45,124,465 (from NCBI)

This gene has 1 transcript (splice variant), 66 orthologues and 9 paralogues. Biased expression in skin (RPKM 13.5) and esophagus (RPKM 0.8).

功能概要

该基因编码 WAP 型四二硫核心 (WFDC) 域家族的成员。 WFDC 域或 WAP 特征基序包含八个半胱氨酸,在蛋白质的核心形成四个二硫键,并起到蛋白酶抑制剂的作用。大多数 WFDC 基因成员位于染色体 20q12-q13 的两个簇中:着丝粒和端粒。该基因属于着丝粒簇。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a Protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]

WFDC12 基因产物(1)

mRNA Protein Name
NM_080869.2 NP_543145.1 WAP four-disulfide core domain protein 12 precursor
基因本体论
  • 分子功能
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
32296183 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

WFDC12 蛋白结构

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (30 - 73)

  • 0
  • 100
  • 111 a.a.
蛋白主名 其他名称

WAP four-disulfide core domain protein 12

protease inhibitor WAP2

WFDC12 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
Intra WFDC12 Q8WWY7 SLC39A7 Homo sapiens Q92504
Validated Y2H
32296183
Intra WFDC12 Q8WWY7 SGTA Homo sapiens O43765
Y2H Array
32296183
Intra WFDC12 Q8WWY7 SGTA Homo sapiens O43765
Y2H Prey Pooling
32296183
Intra WFDC12 Q8WWY7 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
Intra WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0
Validated Y2H
32296183
Intra WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0
Y2H Array
32296183
Intra WFDC12 Q8WWY7 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
32296183
Intra WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra WFDC12 Q8WWY7 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

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 WFDC12 MGD MGI:2183434
Macaca mulatta WFDC12 VGNC VGNC:79009
Rattus norvegicus WFDC12 RGD RGD:1303229