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  2. FERMT2 - FERM domain containing kindlin 2 Gene

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

FERMT2 Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (103 - 277)

FERM_M

FERM_M: FERM central domain (281 - 573)

PH

PH: PH domain (387 - 474)

  • 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

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