2. Gene
  3. FERMT3 - FERM domain containing kindlin 3 Gene

FERMT3 - FERM domain containing kindlin 3 Gene

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

中文名称：含 FERM 域的 Kindlin 3

种属: Homo sapiens

同用名: URP2; KIND3; MIG-2; MIG2B; URP2SF; UNC112C

基因 ID: 83706 | 基因类型: protein coding

关于 FERMT3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,205,920-64,223,891 (from NCBI)

This gene has 42 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 48.7), spleen (RPKM 38.0) and 15 other tissues.

功能概要

Kindlins 是一个蛋白质小家族，介导参与整合素激活的蛋白质-蛋白质相互作用，从而在细胞粘附、迁移、分化和增殖中发挥作用。该基因编码的蛋白质在止血和血栓形成的调节中具有关键作用。这种蛋白质还可能有助于维持红细胞的膜骨架。该基因的突变会导致常染色体隐性遗传白细胞粘附缺陷综合征-III (LAD-III) 。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2010 年 1 月]

Kindlins are a small family of proteins that mediate protein-protein interactions involved in Integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

FERMT3 基因产物(7)

mRNA Protein Name
NM_001382361.1 NP_001369290.1 fermitin family homolog 3 short isoform
NM_001382362.1 NP_001369291.1 fermitin family homolog 3 long isoform
NM_001382363.1 NP_001369292.1 fermitin family homolog 3 isoform 5
NM_001382364.1 NP_001369293.1 fermitin family homolog 3 isoform 6
NM_001382448.1 NP_001369377.1 fermitin family homolog 3 short isoform
NM_031471.6 NP_113659.3 fermitin family homolog 3 short isoform
NM_178443.3 NP_848537.1 fermitin family homolog 3 long isoform
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables lipid binding EXP
EXP: 通过实验结果推断
27101375 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in integrin activation IDA
IDA: 通过直接分析推断
19234463 GOA
involved in integrin activation IMP
IMP: 通过突变表型推断
19234460 GOA
involved in integrin-mediated signaling pathway IMP
IMP: 通过突变表型推断
19234460 GOA
involved in leukocyte cell-cell adhesion IMP
IMP: 通过突变表型推断
19234460 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
19234463 GOA
involved in regulation of cell-cell adhesion mediated by integrin IDA
IDA: 通过直接分析推断
19234463 GOA
involved in substrate adhesion-dependent cell spreading IMP
IMP: 通过突变表型推断
19234460 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

FERMT3 蛋白结构

FERM_M

FERM_M: FERM central domain (258 - 558)

PH

PH: PH domain (369 - 452)

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

fermitin family homolog 3

MIG2-like protein

关联疾病

疾病名称 别名
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
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
Bleeding Disorder, Platelet-Type, 18

Platelet-Type Bleeding Disorder 18

BDPLT18

Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency

Bleeding Disorder Due To Caldag-Gefi Deficiency

Bleeding Disorder, Platelet Type 18
Achard Syndrome

Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
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
Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia
Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04866 FERMT3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21130 Fermt3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27648 Fermt3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FERMT3 RGD RGD:1310168
Felis catus FERMT3 VGNC VGNC:62231
Mus musculus FERMT3 MGD MGI:2147790
Bos taurus FERMT3 VGNC VGNC:106741
Canis familiaris FERMT3 VGNC VGNC:40824
Macaca mulatta FERMT3 VGNC VGNC:72553
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