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FERMT2 - FERM domain containing kindlin 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10979

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	References	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	References	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	References	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

FERMT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FERMT2	Q96AC1	CTNNB1	Homo sapiens	P35222	Anti Tag CoIP	22699938
Intra	FERMT2	Q96AC1	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	22699938
Intra	FERMT2	Q96AC1	CTNNB1	Homo sapiens	P35222	Pull Down	22699938
Intra	FERMT2	Q96AC1	TCF4	Homo sapiens	P15884	Anti Tag CoIP	22699938

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	FERMT2	NCBI