1. Gene
  2. FRMPD2 - FERM and PDZ domain containing 2 Gene

FRMPD2 - FERM and PDZ domain containing 2 Gene

中文名称:含 FERM 和 PDZ 结构域 2

种属: Homo sapiens

同用名: PDZK4; PDZD5C; PDZK5C

基因 ID: 143162 | 基因类型: protein coding

关于 FRMPD2

Cytogenetic location: 10q11.22 Genomic coordinates (GRCh38): 10:48,156,559-48,274,895 (from NCBI)

This gene has 14 transcripts (splice variants), 178 orthologues and 5 paralogues. Biased expression in brain (RPKM 2.2), testis (RPKM 1.3) and 4 other tissues.

功能概要

该基因编码一种外周膜蛋白,位于染色体 10q 的一个区域,该区域包含一个片段重复。这个基因拷贝是全长的,位于端粒复制区。该基因的另外两个更接近着丝粒的拷贝是部分的,可能代表假基因。这个全长基因似乎在细胞极化的建立和维持中起作用。该蛋白以 E-钙粘蛋白依赖性方式募集到细胞-细胞连接处,并选择性地定位于极化上皮细胞的基底外侧膜。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 12 月]

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two Other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

FRMPD2 基因产物(3)

mRNA Protein Name
NM_001018071.4 NP_001018081.4 FERM and PDZ domain-containing protein 2 isoform 3
NM_001042512.3 NP_001035977.3 FERM and PDZ domain-containing protein 2 isoform 4
NM_001318191.1 NP_001305120.1 FERM and PDZ domain-containing protein 2 isoform 5 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 1-phosphatidylinositol binding IDA
IDA: 通过直接分析推断
19706687 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19706687 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicellular tight junction assembly IMP
IMP: 通过突变表型推断
19706687 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
19706687 GOA
located in bicellular tight junction IDA
IDA: 通过直接分析推断
19706687 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
蛋白主名 其他名称

FERM and PDZ domain-containing protein 2

PDZ domain containing 5C

关联疾病

疾病名称 别名
Wrinkly Skin Syndrome

WSS

Wrinkled Skin 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

直系同源

种属 基因名 来源 基因 ID
Bos taurus FRMPD2 VGNC VGNC:50131
Rattus norvegicus FRMPD2 RGD RGD:1565652
Mus musculus FRMPD2 MGD MGI:2685472
Felis catus FRMPD2 VGNC VGNC:62365
Macaca mulatta FRMPD2 VGNC VGNC:72799