Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
300105 11123 ENSG00000102172
Protein Protein information from UniProt database.
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.
  KEGG  Reactome
  Cysteine and methionine metabolism
Arginine and proline metabolism
Glutathione metabolism
Metabolic pathways
  Metabolism of polyamines
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
66
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs1925241775 RCV001249470
Nonpapillary renal cell carcinoma Likely pathogenic rs1924581492, rs1924586809 RCV005911007
RCV005908881
Smith-Magenis syndrome Likely pathogenic rs1569351529 RCV000760247
SMS-related disorder Likely pathogenic rs397515550, rs113689961, rs1556001304 RCV004527931
RCV004544192
RCV000509103
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2239674 RCV005915909
Cholangiocarcinoma Benign rs2239674 RCV005915910
Developmental disorder Uncertain significance rs746297985 RCV001843773
Familial cancer of breast Benign rs12013805 RCV005915946
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37334367, 37709932
Anxiety Associate 21152090
Anxiety Disorders Associate 21152090
Breast Neoplasms Associate 30733278
Carcinoma Hepatocellular Stimulate 36544774
Carcinoma Hepatocellular Associate 38097948
Cartilage Diseases Associate 18205922
Colorectal Neoplasms Associate 27433286
Hypoxia Associate 38097948
Intellectual Disability Associate 28720891, 32838743