Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs1064794247	A>C	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs1258933474	C>T	Likely-pathogenic	Splice donor variant
rs1557497881	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1570898051	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1570964992	AGGCT>C	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant

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
MIRT440563	hsa-miR-218-5p	HITS-CLIP	23212916

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
GO:0005171	Function	Hepatocyte growth factor receptor binding	IPI	11571281
GO:0005515	Function	Protein binding	IPI	11164950, 12604780, 25036637, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	12604780
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	12604780
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IPI	22405651
GO:0031462	Component	Cul2-RING ubiquitin ligase complex	IPI	22405651
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IPI	22405651
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IPI	22405651
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	22405651
GO:0032434	Process	Regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	22405651
GO:0032743	Process	Positive regulation of interleukin-2 production	IDA	12604780
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	12604780
GO:0040029	Process	Epigenetic regulation of gene expression	IMP	12604780
GO:0042130	Process	Negative regulation of T cell proliferation	IDA	12604780
GO:0042327	Process	Positive regulation of phosphorylation	IDA	11571281
GO:0042692	Process	Muscle cell differentiation	IMP	11845407
GO:0055105	Function	Ubiquitin-protein transferase inhibitor activity	IBA
GO:0055105	Function	Ubiquitin-protein transferase inhibitor activity	IGI	22405651
GO:0072359	Process	Circulatory system development	IEA

MIM	HGNC	e!Ensembl
601749	14373	ENSG00000174842

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

MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQLLEIIQNEKNKVIIKN
MGWNLVGPVVRCLLCKDKEDSKRKVYFLIFDLLVKLCNPKELLLGLLELIEEPSGKQISQ
SILLLLQPLQTVIQKLHNKAYSIGLALSTLWNQLSLLPVPYSKEQIQMDDYGLCQCCKAL
IEFTKPFVEEVIDNKENSLENEKLKDELLKFCFKSLKCPLLTAQFFEQSEEGGNDPFRYF
ASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEEEENKQLADSMASLAYLVFVQGIHI
DQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISKGLELLENSLLRIEDNSLLYQYLEIKS
FLTVPQGLVKVMTLCPIETLRKKSLAMLQLYINKLDSQGKYTLFRCLLNTSNHSGVEAFI
IQNIKNQIDMSLKRTRNNKWFTGPQLISLLDLVLFLPEGAETDLLQNSDRIMASLNLLRY
LVIKDNENDNQTGLWTELGNIENNFLKPLHIGLNMSKAHYEAEIKNSQEAQKSKDLCSIT
VSGEEIPNMPPEMQLKVLHSALFTFDLIESVLARVEELIEIKTKSTSEENIGIK

Sequence length

594

Interactions

View interactions

	KEGG		Reactome
	Shigellosis		Antigen processing: Ubiquitination & Proteasome degradation

102

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Blue rubber bleb nevus	Pathogenic	rs1557497881	RCV000736027
GLMN-related disorder	Likely pathogenic; Pathogenic	rs750074519, rs762515373, rs773442562, rs773435694, rs773060450	RCV004731252 RCV003894796 RCV004755722 RCV003424371 RCV003396808
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 RCV002289456 RCV000008249 RCV000008250 RCV003145862 RCV003455864 RCV003455883 RCV001254162 RCV000677646 RCV002470969 RCV000826168 RCV000826167 RCV000986337 RCV001171315 RCV001196048
See cases	Likely pathogenic	rs2100916637	RCV002252842
Vascular skin disorders	Pathogenic; Likely pathogenic	rs762515373, rs751408583	RCV005887377 RCV006252569
Venous malformation	Likely pathogenic; Pathogenic	rs770780171	RCV000626985

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Likely benign	rs535813981	RCV005869273
Familial cancer of breast	Likely benign	rs535813981	RCV005869272
Lymphoma	Likely benign	rs535813981	RCV005869275
Uveal melanoma	Likely benign	rs535813981	RCV005869274

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cerebrovascular Disorders	Associate	22405651
Glomus Tumor	Associate	11845407, 15689436
Glomus vagale tumors	Associate	11845407, 15689436, 17511950, 22405651, 22407726, 22748924, 23303036, 23375657, 35732373
Lymphedema distichiasis syndrome	Associate	22407726
Mental Retardation Autosomal Recessive 1	Associate	22407726
Microcephaly	Associate	22407726
Multiple Pterygium Syndrome Autosomal Dominant	Associate	17511950
Neoplasm Metastasis	Associate	23135352
Neoplasms	Stimulate	23135352
Ossification Heterotopic	Associate	33391181
Prostatic Neoplasms	Associate	23135352
Sertoli Cell Only Syndrome	Stimulate	31603917
Vascular Malformations	Associate	35732373
Vesico Ureteral Reflux	Associate	22407726

GLMN (glomulin, FKBP associated protein)