GLMN (glomulin, FKBP associated protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 11146
Gene name Glomulin, FKBP associated protein
Gene symbol GLMN
Synonyms (NCBI Gene)
FAPFAP48FAP68FKBPAPGLMLGVMVMGLOM
Chromosome 1
Chromosome location 1p22.1
Summary 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
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs751408583 G>A,C Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs754756178 ->A Pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771252983 ->A Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs773435694 A>- Likely-pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs773442562 GTT>- Pathogenic Intron variant, non coding transcript variant, coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT019511 hsa-miR-151a-3p Sequencing 20371350
MIRT026053 hsa-miR-196a-5p Sequencing 20371350
MIRT027759 hsa-miR-98-5p Microarray 19088304
MIRT032167 hsa-let-7d-5p Sequencing 20371350
MIRT440563 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IMP 11845407
GO:0001819 Process Positive regulation of cytokine production IMP 12604780
GO:0001843 Process Neural tube closure IEA
GO:0005102 Function Signaling receptor binding IDA 8955134
GO:0005171 Function Hepatocyte growth factor receptor binding IDA 11571281
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601749 14373 ENSG00000174842
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92990
Protein name Glomulin (FK506-binding protein-associated protein) (FAP) (FKBP-associated protein)
Protein 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 inhib
PDB 4F52
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08568 Kinetochor_Ybp2 1 → 561 Uncharacterised protein family, YAP/Alf4/glomulin Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11845407}.
Sequence
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Shigellosis   Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Blue rubber bleb nevus Pathogenic rs1557497881 RCV000736027
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLMN-related disorder Likely pathogenic; Pathogenic rs750074519, rs762515373, rs773442562, rs773435694, rs773060450 RCV004731252
RCV003894796
RCV004755722
RCV003424371
RCV003396808
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glomuvenous malformation Pathogenic; Likely pathogenic rs2100872124, rs1655201565, rs925708240, rs1375310236, rs750074519, rs2524152962, rs762515373, rs773442562, rs1570993763, rs2524154110, rs2523746202, rs770780171, rs1258933474, rs754756178, rs773435694
View all (4 more)		 RCV001783384
RCV001782202
RCV001802610
RCV001814848
RCV005232924
View all (14 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vascular skin disorders Pathogenic; Likely pathogenic rs762515373, rs751408583 RCV005887377
RCV006252569
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTERIOVENOUS HEMANGIOMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLUE RUBBER BLEB NEVUS SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF VEIN — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (245)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 21630257
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 28082091
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 19469710
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19469710
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12559075
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18665076
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10604226, 10652586, 15982419, 16885356, 19018004, 19584076, 27573780, 27705013
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 17949294
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 10359544, 1314630, 1322639, 1324739, 19414146, 1975233, 20033212, 21411865, 26511139, 27705013, 29302705, 8151639, 8388848, 8733048, 9152835
View all (3 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 9215849
★★★★★
★☆☆☆☆
Found in Text Mining only