SMS (spermine synthase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6611
Gene name Spermine synthase
Gene symbol SMS
Synonyms (NCBI Gene)
MRSRMRXSSRSPMSYSRSSpS
Chromosome X
Chromosome location Xp22.11
Summary This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellect
SNPs SNP information provided by dbSNP.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
SNP ID Visualize variation Clinical significance Consequence
rs121434610 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs150564614 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs267607076 T>G Pathogenic Missense variant, coding sequence variant
rs371972467 C>G,T Conflicting-interpretations-of-pathogenicity Intron variant
rs397515381 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
468
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (468)
miRTarBase ID miRNA Experiments Reference
MIRT030218 hsa-miR-26b-5p Microarray 19088304
MIRT045576 hsa-miR-149-5p CLASH 23622248
MIRT042888 hsa-miR-324-3p CLASH 23622248
MIRT038683 hsa-miR-7-1-3p CLASH 23622248
MIRT682162 hsa-miR-490-3p HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol TAS
GO:0006555 Process Methionine metabolic process TAS 7546290
GO:0006595 Process Polyamine metabolic process IEA
GO:0006595 Process Polyamine metabolic process TAS 9299240
GO:0006596 Process Polyamine biosynthetic process IEA
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
300105 11123 ENSG00000102172
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.
P52788
Protein name Spermine synthase (SPMSY) (EC 2.5.1.22) (Spermidine aminopropyltransferase)
Protein function Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
PDB 3C6K , 3C6M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17950 SpmSyn_N 21 → 117 S-adenosylmethionine decarboxylase N -terminal Domain
PF17284 Spermine_synt_N 123 → 172 Spermidine synthase tetramerisation domain Domain
PF01564 Spermine_synth 174 → 366 Domain
Sequence
Sequence length 366
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
  Cysteine and methionine metabolism
Arginine and proline metabolism
Glutathione metabolism
Metabolic pathways 		  Metabolism of polyamines
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 (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic rs1925241775 RCV001249470
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Likely pathogenic rs1924581492, rs1924586809 RCV005911007
RCV005908881
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Magenis syndrome Likely pathogenic rs1569351529 RCV000760247
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMS-related disorder Likely pathogenic rs397515550, rs113689961, rs1556001304 RCV004527931
RCV004544192
RCV000509103
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (18)
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
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations