GLMN Gene - Glomulin, FKBP Associated Protein
Comprehensive genomic and functional analysis of GLMN, a key regulator of vascular development and associated with glomuvenous malformations.
Gene Information Card
| Symbol | GLMN |
|---|---|
| Full Name | Glomulin, FKBP Associated Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 11146 ncbi.nlm.nih.gov/gene/11146 |
| Ensembl ID | ENSG00000143321 |
| UniProt ID | Q92990 |
| OMIM ID | 601749 |
| HGNC ID | 4293 |
| Aliases | FAP, FKBPAP, GLML, VMGLOM |
Description
The GLMN gene encodes glomulin, a protein that interacts with FK506-binding proteins (FKBPs) and is essential for normal development of the vasculature, particularly in the formation and maintenance of glomus bodies. Mutations in GLMN cause glomuvenous malformations (GVMs), a type of venous anomaly characterized by dilated veins and glomus cells. The protein is involved in regulating smooth muscle cell differentiation and vascular morphogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glomuvenous Malformation (GVM) | Loss-of-function mutations in GLMN lead to defective vascular smooth muscle cell differentiation and abnormal glomus cell accumulation, resulting in venous malformations. | OMIM #138000; multiple reports of heterozygous germline mutations in GLMN associated with GVM. |
| Cutaneous Venous Malformation | Similar mechanism as GVM; GLMN mutations impair normal venous wall structure. | ClinVar; literature reports of GLMN variants in patients with cutaneous venous anomalies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth Muscle | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Lung | 8.5 | Low |
| Skin | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 12.0 | Moderate expression |
| Aortic smooth muscle cells | 18.5 | High expression |
| Fibroblasts | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.117_118delAG | Frameshift | Rare | Loss of function; associated with GVM |
| c.203G>A (p.Trp68*) | Nonsense | Rare | Premature stop; loss of function |
| c.472C>T (p.Arg158*) | Nonsense | Rare | Loss of function; reported in GVM families |
Mutation functional classification
Loss of Function (LOF)
Most GLMN mutations are loss-of-function (nonsense, frameshift, splice-site) leading to haploinsufficiency, which disrupts vascular smooth muscle cell differentiation and causes glomuvenous malformations.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GLMN.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for GLMN mutations; the disease mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • blood vessel morphogenesis (GO:0048514) |
| • actin filament binding (GO:0051015) |
Pathways
• Vascular smooth muscle contraction (Reactome: R-HSA-397014)
• FKBP signaling (Reactome: R-HSA-196854)
Protein Summary
Glomulin is a 594-amino acid protein that binds to FKBP12 and FKBP52, modulating their activity. It is highly expressed in vascular smooth muscle cells and plays a critical role in the differentiation and maintenance of these cells. The protein localizes to the cytoplasm and interacts with actin filaments, contributing to vascular integrity. Loss of glomulin function leads to glomuvenous malformations, characterized by abnormal venous structures and glomus cell clusters.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLMN Knockout HEK293 Cell Line | EDJ-KQ7304 | Human | 11146 | Details Get a Quote |
| GLMN Knockout HCT 116 Cell Line | EDJ-KQ30979 | Human | 11146 | Details Get a Quote |
| GLMN Knockout A-549 Cell Line | EDJ-KQ32353 | Human | 11146 | Details Get a Quote |
| GLMN Knockout HeLa Cell Line | EDJ-KQ32354 | Human | 11146 | Details Get a Quote |
