FERMT3 - FERM domain containing kindlin 3 Gene

Homo sapiens

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

Gene ID: 83706 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04866	FERMT3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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