FERMT2 - FERM domain containing kindlin 2 Gene

Homo sapiens

Also known as MIG2; KIND2; mig-2; UNC112; PLEKHC1; UNC112B

Gene ID: 10979 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SMAD binding	IPI IPI: Inferred from physical interaction	23723426	GOA
enables actin binding	IMP IMP: Inferred from mutant phenotype	29496737	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	21325030	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22699938	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	30254023	GOA
enables type I transforming growth factor beta receptor binding	IPI IPI: Inferred from physical interaction	23723426	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	22699938	GOA
involved in adherens junction maintenance	IMP IMP: Inferred from mutant phenotype	28799653	GOA
acts upstream of or within cell adhesion	IGI IGI: Inferred from genetic interaction	21356350	GOA
acts upstream of or within cell adhesion	IMP IMP: Inferred from mutant phenotype	30382829	GOA
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	21325030	GOA
involved in focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	21356350	GOA
involved in integrin activation	IMP IMP: Inferred from mutant phenotype	22030399	GOA
involved in integrin-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	21325030	GOA
involved in negative regulation of fat cell differentiation	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in negative regulation of vascular permeability	IMP IMP: Inferred from mutant phenotype	28799653	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	24226523	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	30382829	GOA
involved in positive regulation of epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	24226523	GOA
involved in positive regulation of focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of integrin activation	IGI IGI: Inferred from genetic interaction	21356350	GOA
involved in positive regulation of mesenchymal stem cell proliferation	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of myosin light chain kinase activity	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	24226523	GOA
involved in positive regulation of protein localization to nucleus	IDA IDA: Inferred from direct assay	23723426	GOA
involved in positive regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	29496737	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IGI IGI: Inferred from genetic interaction	30254023	GOA
involved in positive regulation of wound healing, spreading of epidermal cells	IMP IMP: Inferred from mutant phenotype	21356350	GOA
acts upstream of or within protein localization to cell junction	IMP IMP: Inferred from mutant phenotype	30254023	GOA
involved in regulation of cell morphogenesis	IMP IMP: Inferred from mutant phenotype	30254023	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	21325030	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in adherens junction	IDA IDA: Inferred from direct assay	28799653	GOA
located in cell junction	IDA IDA: Inferred from direct assay	30382829	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18528435	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	21325030	GOA
located in cytosol	IDA IDA: Inferred from direct assay	23723426	GOA
located in focal adhesion	IDA IDA: Inferred from direct assay	18528435	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22699938	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23723426	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

FERMT2 Protein Structure

FERM_N

FERM_M

0
200
400
600
680 a.a.

Protein Preferred Names

Protein Names

fermitin family homolog 2

PH domain-containing family C member 1

Related Diseases

Diseases

Alias

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

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-RS04865	FERMT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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