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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GLMN
glomulin, FKBP associated protein
Chromosome 1 Β· 1p22.1
NCBI Gene: 11146Ensembl: ENSG00000174842.18HGNC: HGNC:14373UniProt: B4DJ85
79PubMed Papers
21Diseases
0Drugs
52Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell surface receptor signaling pathwaynegative regulation of cell population proliferationregulation of proteasomal ubiquitin-dependent protein catabolic processpositive regulation of interleukin-2 productionglomuvenous malformationgenetic disorderblue rubber bleb nevusasthma
✦AI Summary

GLMN (glomulin) is a regulatory inhibitor of cullin-RING ubiquitin ligase (CRL) complexes that functions as a negative regulator of E3 ubiquitin ligase activity 12. Structurally, GLMN adopts a HEAT-like repeat fold that binds the E2-interacting surface of RBX1's RING domain, thereby blocking E2 ubiquitin-conjugating enzyme CDC34 access and preventing CRL-mediated ubiquitination 2. This mechanism inhibits RBX1-mediated neddylation of CUL1 and stabilizes SCF complex components including FBXW7, maintaining proper cellular levels of substrates like CCNE1 and MYC 1. GLMN is essential for normal vascular development 1. Loss-of-function GLMN variants cause glomuvenous malformations, characterized by blue-purple vascular lesions with glomus cell overgrowth 3. Recent evidence identifies GLMN mutations as a genetic subtype of Dowling-Degos disease, an autosomal-dominant pigmentation disorder, where GLMN variants distinctively associate with glomuvenous malformations alongside generalized skin hyperpigmentation 45. Loss of GLMN function increases melanin production through elevated melanosomes and upregulation of tyrosinase, while reducing phosphorylated p70S6K 5. Rare germline GLMN variants may also contribute to blue rubber bleb nevus syndrome via dysregulated mTOR signaling 6.

Sources cited
1
GLMN binds RBX1 RING domain, inhibits E3 ubiquitin ligase activity, regulates FBXW7 turnover and substrate levels, essential for vascular development
PMID: 22405651
2
GLMN crystal structure shows HEAT-like fold binding RBX1 E2-interacting surface, blocking CDC34 access and CRL activity
PMID: 22748924
3
GLMN mutations cause glomuvenous malformations presenting as blue-purple vascular lesions with glomus cell proliferation
PMID: 17511950
4
Loss-of-function GLMN variants associated with generalized skin hyperpigmentation and glomuvenous malformations, increased melanosomes and tyrosinase, decreased p70S6K phosphorylation
PMID: 38489583
5
GLMN variants identified as genetic subtype of Dowling-Degos disease with distinctive glomuvenous malformation feature
PMID: 40674458
6
Rare germline GLMN variants may contribute to blue rubber bleb nevus syndrome via abnormal mTOR signaling
PMID: 31793416
Disease Associationsβ“˜21
glomuvenous malformationOpen Targets
0.79Strong
genetic disorderOpen Targets
0.49Moderate
blue rubber bleb nevusOpen Targets
0.37Weak
asthmaOpen Targets
0.34Weak
Venous malformationOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.29Weak
chronic rhinosinusitisOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.23Weak
respiratory tract infectious disorderOpen Targets
0.13Weak
Oral ulcerOpen Targets
0.13Weak
lower respiratory tract diseaseOpen Targets
0.07Suggestive
12q14 microdeletion syndromeOpen Targets
0.06Suggestive
osteoporosisOpen Targets
0.05Suggestive
postmenopausal osteoporosisOpen Targets
0.05Suggestive
pyknoachondrogenesisOpen Targets
0.05Suggestive
melorheostosisOpen Targets
0.05Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.05Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.05Suggestive
osteomesopyknosisOpen Targets
0.05Suggestive
Glomuvenous malformationsUniProt
Pathogenic Variants52
NM_053274.3(GLMN):c.971dup (p.Leu324fs)Pathogenic
See cases|Vascular skin disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 324
NM_053274.3(GLMN):c.743dup (p.Leu248fs)Pathogenic
not provided|Glomuvenous malformation|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 248
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del)Pathogenic
Glomuvenous malformation|not specified|not provided|GLMN-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 393
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)Pathogenic
Glomuvenous malformation|not provided|GLMN-related disorder|Inborn genetic diseases|Vascular skin disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter)Likely pathogenic
not provided|Vascular skin disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 574
NM_053274.3(GLMN):c.989_990del (p.Ser330fs)Pathogenic
not provided|Glomuvenous malformation
β˜…β˜…β˜†β˜†2025β†’ Residue 330
NM_053274.3(GLMN):c.844_847del (p.Leu282fs)Pathogenic
Glomuvenous malformation|not provided|GLMN-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 282
NM_053274.3(GLMN):c.1214+2T>CPathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_053274.3(GLMN):c.1376del (p.Gly459fs)Pathogenic
Glomuvenous malformation|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 459
NM_053274.3(GLMN):c.586_589del (p.Glu196fs)Pathogenic
Glomuvenous malformation
β˜…β˜…β˜†β˜†2024β†’ Residue 196
NM_053274.3(GLMN):c.1150_1151del (p.Ser384fs)Pathogenic
not provided|GLMN-related disorder|Glomuvenous malformation
β˜…β˜…β˜†β˜†2024β†’ Residue 384
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)Pathogenic
Venous malformation|not provided|Glomuvenous malformation
β˜…β˜…β˜†β˜†2024β†’ Residue 36
NM_053274.3(GLMN):c.1355del (p.Leu452fs)Pathogenic
Glomuvenous malformation|GLMN-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 452
NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs)Pathogenic
Glomuvenous malformation|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 185
NM_053274.3(GLMN):c.888_890delinsATTTGTA (p.Gly297fs)Likely pathogenic
Glomuvenous malformation
β˜…β˜†β˜†β˜†2025β†’ Residue 297
NM_053274.3(GLMN):c.211C>T (p.Arg71Ter)Likely pathogenic
Glomuvenous malformation
β˜…β˜†β˜†β˜†2025β†’ Residue 71
NM_053274.3(GLMN):c.19_20del (p.Gln7fs)Likely pathogenic
Glomuvenous malformation
β˜…β˜†β˜†β˜†2025β†’ Residue 7
NM_053274.3(GLMN):c.1471C>T (p.Gln491Ter)Pathogenic
Glomuvenous malformation
β˜…β˜†β˜†β˜†2025β†’ Residue 491
NM_053274.3(GLMN):c.1206_1209del (p.Phe404fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 404
NM_053274.3(GLMN):c.35_36del (p.Arg12fs)Pathogenic
Glomuvenous malformation
β˜…β˜†β˜†β˜†2025β†’ Residue 12
View on ClinVar β†—
Related Genes
CUL1Protein interaction100%DCAF5Protein interaction100%UBA3Protein interaction100%DCAF1Protein interaction100%CUL7Protein interaction100%SKP1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
68%
Brain
60%
Heart
52%
Lung
42%
Liver
37%
Gene Interaction Network
Click a node to explore
GLMNCUL1DCAF5UBA3DCAF1CUL7SKP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4F52 Β· 3.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.71LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.92 [0.50–1.71]
RankingsWhere GLMN stands among ~20K protein-coding genes
  • #5,996of 20,598
    Most Researched79
  • #1,294of 5,498
    Most Pathogenic Variants52 Β· top quartile
  • #16,127of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedGLMN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
PMID: 38489583
Br J Dermatol Β· 2024
1.00
2
Glomuvenous malformations.
PMID: 17511950
Dermatol Online J Β· 2007
0.90
3
Beneath the surface: delineating the subtypes of Dowling-Degos disease.
PMID: 40674458
Br J Dermatol Β· 2025
0.80
4
Rare Germline
PMID: 31793416
Comb Chem High Throughput Screen Β· 2019
0.70
5
GLMN variants cause skin hyperpigmentation: a promising potential therapeutic target.
PMID: 38584369
Br J Dermatol Β· 2024
0.60