1. Gene
  2. FERMT2 - FERM domain containing kindlin 2 Gene

FERMT2 - FERM domain containing kindlin 2 Gene

中文名称:含 FERM 域的 kindlin 2

种属: Homo sapiens

同用名: MIG2; KIND2; mig-2; UNC112; PLEKHC1; UNC112B

基因 ID: 10979 | 基因类型: protein coding

关于 FERMT2

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:52,857,273-52,951,050 (from NCBI)

This gene has 15 transcripts (splice variants), 212 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues.

功能概要

启用多种功能,包括肌动蛋白结合活动;磷脂酰肌醇-3,4,5-三磷酸结合活性;和 I 型转化生长因子 β 受体结合活性。参与多个过程,包括细胞表面受体信号通路;细胞分化的正调控;和细胞成分生物合成的正调控。在细胞粘附和蛋白质定位到细胞连接处的上游或内部起作用。位于胞质溶胶中;粘着斑;和核质。是质膜细胞质侧的外在成分。粘附连接和质膜的一部分。急性髓性白血病的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including actin binding activity; phosphatidylinositol-3,4,5-trisphosphate binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cell differentiation; and positive regulation of cellular component biogenesis. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in cytosol; focal adhesion; and nucleoplasm. Is extrinsic component of cytoplasmic side of plasma membrane. Part of adherens junction and plasma membrane. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Apr 2022]

FERMT2 基因产物(3)

mRNA Protein Name
NM_001134999.2 NP_001128471.1 fermitin family homolog 2 isoform 2
NM_001135000.2 NP_001128472.1 fermitin family homolog 2 isoform 3
NM_006832.3 NP_006823.1 fermitin family homolog 2 isoform 1
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 SMAD binding IPI
IPI: 通过物理相互作用推断
23723426 GOA
enables actin binding IMP
IMP: 通过突变表型推断
29496737 GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
IDA: 通过直接分析推断
21325030 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22699938 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
30254023 GOA
enables type I transforming growth factor beta receptor binding IPI
IPI: 通过物理相互作用推断
23723426 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt signaling pathway IMP
IMP: 通过突变表型推断
22699938 GOA
involved in adherens junction maintenance IMP
IMP: 通过突变表型推断
28799653 GOA
acts upstream of or within cell adhesion IGI
IGI: 通过遗传相互作用推断
21356350 GOA
acts upstream of or within cell adhesion IMP
IMP: 通过突变表型推断
30382829 GOA
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
21325030 GOA
involved in focal adhesion assembly IMP
IMP: 通过突变表型推断
21356350 GOA
involved in integrin activation IMP
IMP: 通过突变表型推断
22030399 GOA
involved in integrin-mediated signaling pathway IMP
IMP: 通过突变表型推断
21325030 GOA
involved in negative regulation of fat cell differentiation IMP
IMP: 通过突变表型推断
29496737 GOA
involved in negative regulation of vascular permeability IMP
IMP: 通过突变表型推断
28799653 GOA
involved in positive regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
24226523 GOA
involved in positive regulation of GTPase activity IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
30382829 GOA
involved in positive regulation of epithelial to mesenchymal transition IDA
IDA: 通过直接分析推断
24226523 GOA
involved in positive regulation of focal adhesion assembly IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of integrin activation IGI
IGI: 通过遗传相互作用推断
21356350 GOA
involved in positive regulation of mesenchymal stem cell proliferation IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of myosin light chain kinase activity IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
24226523 GOA
involved in positive regulation of protein localization to nucleus IDA
IDA: 通过直接分析推断
23723426 GOA
involved in positive regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
29496737 GOA
involved in positive regulation of substrate adhesion-dependent cell spreading IGI
IGI: 通过遗传相互作用推断
30254023 GOA
involved in positive regulation of wound healing, spreading of epidermal cells IMP
IMP: 通过突变表型推断
21356350 GOA
acts upstream of or within protein localization to cell junction IMP
IMP: 通过突变表型推断
30254023 GOA
involved in regulation of cell morphogenesis IMP
IMP: 通过突变表型推断
30254023 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: 通过突变表型推断
21325030 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in adherens junction IDA
IDA: 通过直接分析推断
28799653 GOA
located in cell junction IDA
IDA: 通过直接分析推断
30382829 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18528435 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
21325030 GOA
located in cytosol IDA
IDA: 通过直接分析推断
23723426 GOA
located in focal adhesion IDA
IDA: 通过直接分析推断
18528435 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22699938 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23723426 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

FERMT2 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (103 - 277)

FERM_M

FERM_M: FERM central domain (281 - 573)

PH

PH: PH domain (387 - 474)

  • 0
  • 200
  • 400
  • 600
  • 680 a.a.
蛋白主名 其他名称

fermitin family homolog 2

PH domain-containing family C member 1

FERMT2 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
FERMT2 Q96AC1 CTNNB1 Homo sapiens P35222 22699938
种属内
FERMT2 Q96AC1 CTNNB1 Homo sapiens P35222 22699938
种属内
FERMT2 Q96AC1 CTNNB1 Homo sapiens P35222 22699938
种属内
FERMT2 Q96AC1 TCF4 Homo sapiens P15884 22699938
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
Kindler Syndrome

Poikiloderma Of Kindler

Bullous Acrokeratotic Poikiloderma Of Kindler And Weary

Congenital Bullous Poikiloderma

KNDLRS

Poikiloderma, Hereditary Acrokeratotic

Poikiloderma, Congenital, With Bullae, Weary Type

Kindler'S Syndrome

Poikiloderma Congenital With Bullae Weary Type

Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary

Hereditary Acrokeratotic Poikiloderma

Weary Syndrome

Poikiloderma Hereditary Acrokeratotic

Potassium Deficiency

Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3

LAD3

Leukocyte Adhesion Deficiency 1 Variant

Lad1v

Integrin Activation Deficiency Disease

Iadd

Leukocyte Adhesion Deficiency Type Iii

Lad1 Variant

Lad-1 Variant

Lad-Iii

Leukocyte Adhesion Deficiency-1 Variant

Leukocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

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
Felis catus FERMT2 VGNC VGNC:62230
Bos taurus FERMT2 VGNC VGNC:28953
Mus musculus FERMT2 MGD MGI:2385001
Rattus norvegicus FERMT2 RGD RGD:1311799
Canis familiaris FERMT2 VGNC VGNC:40823
Macaca mulatta FERMT2 VGNC VGNC:82144