GMFG (Glia Maturation Factor Gamma)

Actin-binding protein involved in cytoskeletal dynamics and immune cell function

Gene Information Card

Symbol GMFG
Full Name Glia Maturation Factor Gamma
Gene Type Protein coding
Chromosomal Location 19q13.2
NCBI Gene ID 9535 ncbi.nlm.nih.gov/gene/9535
Ensembl ID ENSG00000130558
UniProt ID O60234
OMIM ID 601893
HGNC ID 4384
Aliases GMF, GMF-gamma

Description

GMFG (Glia Maturation Factor Gamma) is a protein-coding gene that encodes a member of the glia maturation factor family. The protein is an actin-binding protein that regulates actin filament dynamics, particularly in immune cells such as neutrophils and macrophages. It plays a role in cell migration, phagocytosis, and cytoskeletal reorganization. GMFG is predominantly expressed in hematopoietic tissues and is involved in inflammatory responses.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Inflammatory disorders GMFG regulates neutrophil chemotaxis and actin polymerization; dysregulation may contribute to excessive inflammation. NCBI Gene, UniProt
Cancer (potential) Altered GMFG expression may affect tumor cell migration and invasion via cytoskeletal remodeling. NCBI Gene, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Bone marrow 12.5 High
Spleen 10.8 High
Lymph node 9.2 Medium
Blood 8.5 Medium
Lung 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
HL-60 (leukemia) 15.3 High expression
K-562 (leukemia) 12.1 High expression
HeLa (cervical) 2.5 Low expression
A549 (lung) 3.0 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.214A>G (p.Thr72Ala) Missense <0.1% Unknown functional effect
c.367C>T (p.Arg123Trp) Missense <0.1% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Pathways

• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
• Chemokine signaling pathway (KEGG: hsa04062)

Protein Summary

The GMFG protein (UniProt O60234) is a 142-amino acid actin-binding protein that belongs to the ADF/cofilin family. It promotes actin filament severing and depolymerization, regulating cytoskeletal dynamics essential for cell motility and immune function. The protein is highly expressed in hematopoietic cells and localizes to the cytoplasm and plasma membrane.

Related Products

Product name Cat.No. Species Gene ID
GMFG Knockout HEK293 Cell Line EDJ-KQ6626 Human 9535 Details Get a Quote
GMFG Knockout HeLa Cell Line EDJ-KQ29528 Human 9535 Details Get a Quote
GMFG Knockout A-549 Cell Line EDJ-KQ63671 Human 9535 Details Get a Quote
GMFG Knockout HCT 116 Cell Line EDJ-KQ72133 Human 9535 Details Get a Quote
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