Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6611
Gene name Gene Name - the full gene name approved by the HGNC.
Spermine synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMS
Synonyms (NCBI Gene) Gene synonyms aliases
MRSR, MRXSSR, SPMSY, SRS, SpS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300105 11123 ENSG00000102172
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Syndromic X-linked intellectual disability Snyder type rs1602210346, rs1924650670, rs397515381, rs121434610, rs267607076, rs397515550, rs397515551, rs397515553, rs1602220706 N/A
Associations from Text Mining Disease 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