This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2... See more...

Aliases for GLMN Gene

Aliases for GLMN Gene

  • Glomulin, FKBP Associated Protein 2 3 5
  • FK506-Binding Protein-Associated Protein 3 4
  • FKBP-Associated Protein 3 4
  • Glomulin 3 4
  • VMGLOM 3 4
  • FAP48 3 4
  • FAP68 3 4
  • FAP 3 4
  • Venous Malformation With Glomus Cells 2
  • FKBPAP 3
  • GLML 3
  • GVM 3

External Ids for GLMN Gene

Previous HGNC Symbols for GLMN Gene

  • VMGLOM

Previous GeneCards Identifiers for GLMN Gene

  • GC01M092048
  • GC01M092184
  • GC01M092185
  • GC01M092424
  • GC01M092484
  • GC01M092711
  • GC01M090832

Summaries for GLMN Gene

Entrez Gene Summary for GLMN Gene

  • This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for GLMN Gene

GLMN (Glomulin, FKBP Associated Protein) is a Protein Coding gene. Diseases associated with GLMN include Glomuvenous Malformations and Blue Rubber Bleb Nevus. Among its related pathways are Shigellosis. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ubiquitin-protein transferase inhibitor activity.

UniProtKB/Swiss-Prot Summary for GLMN Gene

  • [Isoform 1]: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281).

Gene Wiki entry for GLMN Gene

Additional gene information for GLMN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLMN Gene

Genomics for GLMN Gene

GeneHancer (GH) Regulatory Elements for GLMN Gene

Promoters and enhancers for GLMN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J092297 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 +142.9 142923 3.2 SIN3A NRF1 POLR2G PHF8 ZFX CTCF ZNF639 ZIC2 POLR2A ZBTB10 RPAP2 lnc-GLMN-1 GLMN DIPK1A SNORD21 SNORA66 RPL5 TGFBR3 EVI5 piR-43107-016
GH01J092441 Promoter/Enhancer 1.3 EPDnew ENCODE 500.7 0.0 -36 1 TCF12 POLR2G NCOR1 ZFX TCF7 ZBTB25 SKI TEAD1 ZBTB26 TBX3 GLMN piR-61945-029 lnc-RPAP2-2
GH01J093078 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 40.9 -638.6 -638552 4.6 RXRA EP300 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 MYC TCF12 MTF2 NONHSAG002079.2 lnc-TMED5-6 CCDC18-AS1 RPAP2 ENSG00000260464 GLMN DR1 SNORA66 CCDC18
GH01J092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 20.4 -391.6 -391611 4.5 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC POLR2G SP1 RPL5 SNORD21 SNORA66 MTF2 CCDC18-AS1 TGFBR3 GLMN DR1 RPAP2 BTBD8
GH01J091882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.3 +556.7 556746 5.2 CTCF ZSCAN5C POLR2G ZNF639 ZNF10 ZIC2 POLR2A ZBTB10 ZBTB11 ZNF423 TGFBR3 lnc-SETSIP-3 HFM1 RPAP2 SNORA66 SNORD21 RPL5 GLMN BTBD8 ZNF644
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLMN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLMN

Top Transcription factor binding sites by QIAGEN in the GLMN gene promoter:
  • AhR
  • AML1a
  • Arnt
  • C/EBPalpha
  • Pax-2
  • Pax-2a
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for GLMN Gene

Genomic Locations for GLMN Gene
chr1:92,246,398-92,441,946
(GRCh38/hg38)
Size:
195,549 bases
Orientation:
Minus strand
chr1:92,711,955-92,764,566
(GRCh37/hg19)
Size:
52,612 bases
Orientation:
Minus strand

Genomic View for GLMN Gene

Genes around GLMN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLMN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLMN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLMN Gene

Proteins for GLMN Gene

  • Protein details for GLMN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92990-GLMN_HUMAN
    Recommended name:
    Glomulin
    Protein Accession:
    Q92990
    Secondary Accessions:
    • Q5VVC3
    • Q9BVE8

    Protein attributes for GLMN Gene

    Size:
    594 amino acids
    Molecular mass:
    68208 Da
    Quaternary structure:
    • Interacts with FKBP4 and FKBP1A (PubMed:8955134, PubMed:12604780, PubMed:11164950). Isoform 1: Interacts with RBX1 (via RING domain) (PubMed:22405651, PubMed:22748924). Identified in complexes that contain RBX1 plus one of the cullins CUL1, CUL2, CUL3, and CUL4A (PubMed:22405651, PubMed:22748924). Identified in a SCF complex composed of CUL1, RBX1, SKP1, FBXW7 and GLMN (PubMed:22405651). Component of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN (PubMed:12904573). Interacts with unphosphorylated MET and is released upon MET phosphorylation (PubMed:11571281).

    Three dimensional structures from OCA and Proteopedia for GLMN Gene

    Alternative splice isoforms for GLMN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLMN Gene

Post-translational modifications for GLMN Gene

No data available for DME Specific Peptides for GLMN Gene

Domains & Families for GLMN Gene

Gene Families for GLMN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GLMN Gene

Suggested Antigen Peptide Sequences for GLMN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60587, highly similar to Glomulin (B4DJ85_HUMAN)
  • FKBP-associated protein (GLMN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92990

UniProtKB/Swiss-Prot:

GLMN_HUMAN :
  • The C-terminal half of the protein is important for interaction with RBX1.
Domain:
  • The C-terminal half of the protein is important for interaction with RBX1.
genes like me logo Genes that share domains with GLMN: view

Function for GLMN Gene

Molecular function for GLMN Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281).

Phenotypes From GWAS Catalog for GLMN Gene

Gene Ontology (GO) - Molecular Function for GLMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005171 hepatocyte growth factor receptor binding IPI 11571281
GO:0005515 protein binding IPI 11164950
GO:0031625 ubiquitin protein ligase binding IDA 22405651
GO:0055105 ubiquitin-protein transferase inhibitor activity IGI 22405651
genes like me logo Genes that share ontologies with GLMN: view
genes like me logo Genes that share phenotypes with GLMN: view

Human Phenotype Ontology for GLMN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GLMN

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLMN

Clone Products

  • Addgene plasmids for GLMN

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GLMN Gene

Localization for GLMN Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLMN gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0031461 cullin-RING ubiquitin ligase complex IPI 22405651
GO:0031462 Cul2-RING ubiquitin ligase complex IPI 22405651
GO:0031463 Cul3-RING ubiquitin ligase complex IPI 22405651
GO:0031464 Cul4A-RING E3 ubiquitin ligase complex IPI 22405651
genes like me logo Genes that share ontologies with GLMN: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GLMN Gene

Pathways & Interactions for GLMN Gene

PathCards logo

SuperPathways for GLMN Gene

SuperPathway Contained pathways
1 Shigellosis
genes like me logo Genes that share pathways with GLMN: view

Pathways by source for GLMN Gene

1 KEGG pathway for GLMN Gene

SIGNOR curated interactions for GLMN Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GLMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IMP 11845407
GO:0001843 neural tube closure IEA --
GO:0031397 negative regulation of protein ubiquitination IEA --
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 22405651
GO:0040029 regulation of gene expression, epigenetic IMP 12604780
genes like me logo Genes that share ontologies with GLMN: view

Drugs & Compounds for GLMN Gene

(2) Drugs for GLMN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GLMN: view

Transcripts for GLMN Gene

mRNA/cDNA for GLMN Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLMN

Clone Products

  • Addgene plasmids for GLMN

Alternative Splicing Database (ASD) splice patterns (SP) for GLMN Gene

No ASD Table

Relevant External Links for GLMN Gene

GeneLoc Exon Structure for
GLMN

Expression for GLMN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLMN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLMN Gene

This gene is overexpressed in Bone (53.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLMN Gene



Protein tissue co-expression partners for GLMN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLMN

SOURCE GeneReport for Unigene cluster for GLMN Gene:

Hs.49105

mRNA Expression by UniProt/SwissProt for GLMN Gene:

Q92990-GLMN_HUMAN
Tissue specificity: Ubiquitous.

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLMN Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
General:
  • skin
genes like me logo Genes that share expression patterns with GLMN: view

No data available for mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for GLMN Gene

Orthologs for GLMN Gene

This gene was present in the common ancestor of animals.

Orthologs for GLMN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLMN 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLMN 31 30
  • 92.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLMN 31 30
  • 90.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glmn 17 31 30
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Glmn 30
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GLMN 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLMN 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLMN 31 30
  • 70.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLMN 31
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glmn 30
  • 64.92 (n)
Str.13614 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69174 30
zebrafish
(Danio rerio)
Actinopterygii glmna 31 30
  • 57.18 (n)
OneToMany
glmnb 31
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004843 30
  • 41.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30496 31 30
  • 41.04 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for GLMN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GLMN Gene

ENSEMBL:
Gene Tree for GLMN (if available)
TreeFam:
Gene Tree for GLMN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLMN: view image

Paralogs for GLMN Gene

No data available for Paralogs for GLMN Gene

Variants for GLMN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLMN Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
660874 Pathogenic: not provided 92,263,708(-) T/TA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
667406 Likely Pathogenic: Glomuvenous malformations 92,288,988(-) AGGCT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
667407 Likely Pathogenic: Glomuvenous malformations 92,263,676(-) CA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
801500 Likely Pathogenic: Glomuvenous malformations 92,267,927(-) GA/G FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
811575 Benign: Glomuvenous malformations 92,297,534(-) CA/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GLMN Gene

Structural Variations from Database of Genomic Variants (DGV) for GLMN Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV deletion 23290073
nsv518196 CNV loss 19592680
nsv830592 CNV gain 17160897

Variation tolerance for GLMN Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLMN Gene

Human Gene Mutation Database (HGMD)
GLMN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLMN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLMN Gene

Disorders for GLMN Gene

MalaCards: The human disease database

(17) MalaCards diseases for GLMN Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glomuvenous malformations
  • gvm
blue rubber bleb nevus
  • bean syndrome
glomangioma
klippel-trenaunay-weber syndrome
  • ktw syndrome
benign perivascular tumor
  • benign pericytic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search GLMN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLMN_HUMAN
  • Glomuvenous malformations (GVMs) [MIM:138000]: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. {ECO:0000269 PubMed:11845407, ECO:0000269 PubMed:22405651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GLMN

genes like me logo Genes that share disorders with GLMN: view

No data available for Genatlas for GLMN Gene

Publications for GLMN Gene

  1. FAP48, a new protein that forms specific complexes with both immunophilins FKBP59 and FKBP12. Prevention by the immunosuppressant drugs FK506 and rapamycin. (PMID: 8955134) Chambraud B … Baulieu EE (The Journal of biological chemistry 1996) 2 3 4 23 54
  2. The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis. (PMID: 12604780) Krummrei U … Chambraud B (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23 54
  3. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). (PMID: 11845407) Brouillard P … Vikkula M (American journal of human genetics 2002) 3 4 23 54
  4. Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor. (PMID: 11571281) Grisendi S … Crepaldi T (The Journal of biological chemistry 2001) 3 4 23 54
  5. The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7. (PMID: 22405651) Tron AE … DeCaprio JA (Molecular cell 2012) 3 4 54

Products for GLMN Gene

Sources for GLMN Gene