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Aliases for GLMN Gene

Aliases for GLMN Gene

  • Glomulin, FKBP Associated Protein 2 3
  • FK506-Binding Protein-Associated Protein 3 4
  • FKBP-Associated Protein 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. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GLMN Gene

GLMN (Glomulin, FKBP Associated Protein) is a Protein Coding gene. Diseases associated with GLMN include glomuvenous malformations and glomangioma. GO annotations related to this gene include ubiquitin protein ligase binding and ubiquitin-protein transferase inhibitor activity.

UniProtKB/Swiss-Prot for GLMN Gene

  • Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.

Gene Wiki entry for GLMN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLMN Gene

Genomics for GLMN Gene

Regulatory Elements for GLMN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GLMN Gene

Chromosome:
1
Start:
92,246,398 bp from pter
End:
92,441,946 bp from pter
Size:
195,549 bases
Orientation:
Minus strand

Genomic View for GLMN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Monomer. Isoform 1 interacts with notphosphorylated MET and is released upon receptor phosphorylation. Isoform 2 interacts with FKBP59 and FKBP12. Isoform 1 is part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1.
    Miscellaneous:
    • Rapamycin and FK506 abolish the interaction in a dose dependent manner

    Three dimensional structures from OCA and Proteopedia for GLMN Gene

    Alternative splice isoforms for GLMN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLMN Gene

Proteomics data for GLMN Gene at MOPED

Post-translational modifications for GLMN Gene

Other Protein References for GLMN Gene

Antibody Products

No data available for DME Specific Peptides for GLMN Gene

Domains & Families for GLMN Gene

Protein Domains for GLMN Gene

Suggested Antigen Peptide Sequences for GLMN Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for GLMN Gene

Function for GLMN Gene

Molecular function for GLMN Gene

UniProtKB/Swiss-Prot Function:
Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.

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

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLMN

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for GLMN Gene COMPARTMENTS Subcellular localization image for GLMN gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for GLMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 12604780
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

SuperPathways for GLMN Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Angiogenic Growth Factors in human,mouse,rat
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat

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 IGI 22405651
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

No data available for Pathways by source for GLMN Gene

Drugs & Compounds for GLMN Gene

(2) Drugs for GLMN Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma 992
Rapamycin Pharma mTOR inhibitor 0
genes like me logo Genes that share compounds with GLMN: view

Transcripts for GLMN Gene

Unigene Clusters for GLMN Gene

Glomulin, FKBP associated protein:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLMN

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GLMN Gene

GeneLoc Exon Structure for
GLMN
ECgene alternative splicing isoforms for
GLMN

Expression for GLMN Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GLMN Gene



SOURCE GeneReport for Unigene cluster for GLMN Gene Hs.49105

mRNA Expression by UniProt/SwissProt for GLMN Gene

Q92990-GLMN_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with GLMN: view

Protein tissue co-expression partners for GLMN Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal 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
cow
(Bos Taurus)
Mammalia GLMN 35
  • 90.47 (n)
  • 89.34 (a)
GLMN 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLMN 35
  • 92.96 (n)
  • 92.91 (a)
GLMN 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glmn 35
  • 86.86 (n)
  • 86.8 (a)
Glmn 16
Glmn 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLMN 35
  • 99.49 (n)
  • 99.33 (a)
GLMN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glmn 35
  • 84.49 (n)
  • 84.94 (a)
oppossum
(Monodelphis domestica)
Mammalia GLMN 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLMN 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLMN 35
  • 70.34 (n)
  • 65.76 (a)
GLMN 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLMN 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glmn 35
  • 64.92 (n)
  • 57.36 (a)
Str.13614 35
African clawed frog
(Xenopus laevis)
Amphibia MGC69174 35
zebrafish
(Danio rerio)
Actinopterygii glmna 35
  • 57.18 (n)
  • 53.28 (a)
glmna 36
  • 50 (a)
OneToMany
glmnb 36
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004843 35
  • 41.31 (n)
  • 27.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30496 35
  • 41.04 (n)
  • 28.15 (a)
CG30496 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for GLMN:
  • 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)

Paralogs for GLMN Gene

No data available for Paralogs for GLMN Gene

Variants for GLMN Gene

Sequence variations from dbSNP and Humsavar for GLMN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs733012 -- 92,410,359(-) TGGAA(A/C)CACAT intron-variant
rs745793 -- 92,409,514(+) GTAGG(C/G)ATCTG intron-variant
rs912794 -- 92,410,931(-) CTGGT(C/T)GCTGC intron-variant
rs942752 -- 92,430,155(+) CCACA(A/T)GTGCA intron-variant
rs962324 -- 92,261,822(+) ACTGA(C/T)GGAGT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2714684 CNV Deletion 23290073
nsv871508 CNV Gain 21882294
nsv830592 CNV Gain 17160897
nsv870667 CNV Loss 21882294
nsv518196 CNV Loss 19592680
dgv266n71 CNV Loss 21882294

Variation tolerance for GLMN Gene

Residual Variation Intolerance Score: 77.76% 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)

Relevant External Links for GLMN Gene

HapMap Linkage Disequilibrium report
GLMN
Human Gene Mutation Database (HGMD)
GLMN

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

Disorders for GLMN Gene

MalaCards: The human disease database

(13) MalaCards diseases for GLMN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
glomuvenous malformations
  • multiple glomangiomas
glomangioma
  • glomus tumor
familial glomangioma
  • hereditary glomangioma
benign perivascular tumor
  • benign pericytic neoplasm
cardiovascular organ benign neoplasm
- elite association
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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLMN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 E.-E. (J. Biol. Chem. 1996) 2 23 67
  2. Type 2 segmental glomangiomas. (PMID: 20137750) Hoekzema R. … van der Wal A.C. (Dermatol. Online J. 2010) 23 67
  3. [Glomulin mutations in glomuvenous malformation (glomangioma)]. (PMID: 17384560) Dereure O. (Ann Dermatol Venereol 2007) 23 67
  4. Glomuvenous malformations. (PMID: 17511950) Henning J.S. … Schaffer J.V. (Dermatol. Online J. 2007) 23 67
  5. Mutation analysis in Irish families with glomuvenous malformations. (PMID: 16445774) O'Hagan A.H. … Hughes A.E. (Br. J. Dermatol. 2006) 23 67

Products for GLMN Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Angiogenic Growth Factors in human,mouse,rat
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate GLMN
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for GLMN
    • Block miRNA regulation of GLMN using miScript Target Protectors

    Sources for GLMN Gene

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