FERMT3 - FERM domain containing kindlin 3 Gene

Also Known as URP2; KIND3; MIG-2; MIG2B; URP2SF; UNC112C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83706

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Références Source
enables lipid binding EXP
EXP: Inferred from Experiment
27101375 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Références Source
involved in integrin activation IDA
IDA: Inferred from direct assay
19234463 GOA
involved in integrin activation IMP
IMP: Inferred from mutant phenotype
19234460 GOA
involved in integrin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
19234460 GOA
involved in leukocyte cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
19234460 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
19234463 GOA
involved in regulation of cell-cell adhesion mediated by integrin IDA
IDA: Inferred from direct assay
19234463 GOA
involved in substrate adhesion-dependent cell spreading IMP
IMP: Inferred from mutant phenotype
19234460 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FERMT3 Protein Structure

FERM_M

FERM_M: FERM central domain (258 - 558)

PH

PH: PH domain (369 - 452)

  • 0
  • 200
  • 400
  • 600
  • 667 a.a.
Protein Preferred Names Protein Names

fermitin family homolog 3

  • MIG2-like protein

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS04866 FERMT3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21130 Fermt3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27648 Fermt3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others FERMT3 NCBI