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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 intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been foun... See more...
Aliases for SMS Gene
Aliases for SMS Gene
External Ids for SMS Gene
- HGNC: 11123
- NCBI Entrez Gene: 6611
- Ensembl: ENSG00000102172
- OMIM®: 300105
- UniProtKB/Swiss-Prot: P52788
Previous HGNC Symbols for SMS Gene
- SRS
Previous GeneCards Identifiers for SMS Gene
- GC0XP020700
- GC0XP020548
- GC0XP021160
- GC0XP021320
- GC0XP021718
- GC0XP021868
- GC0XP019699
Summaries for SMS 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 intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for SMS Gene
SMS (Spermine Synthase) is a Protein Coding gene. Diseases associated with SMS include Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type and Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Viral mRNA Translation and Glutathione metabolism. Gene Ontology (GO) annotations related to this gene include spermidine synthase activity and spermine synthase activity. An important paralog of this gene is SRM.
UniProtKB/Swiss-Prot Summary for SMS Gene
-
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
Additional gene information for SMS Gene
- HGNC (11123)
- NCBI Entrez Gene (6611)
- Ensembl (ENSG00000102172)
- OMIM® (300105)
- UniProtKB/Swiss-Prot (P52788)
- Open Targets Platform(ENSG00000102172)
- Monarch Initiative
- Search for SMS at DataMed
- Search for SMS at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMS Gene
Genomics for SMS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMS
- Top Transcription factor binding sites by QIAGEN in the SMS gene promoter:
-
- AP-1
- ATF-2
- c-Ets-1
- c-Jun
- En-1
- HNF-4alpha1
- MAZR
- Nkx5-1
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for SMS Gene
Latest Assembly
- chrX:21,940,709-21,994,837
- (GRCh38/hg38)
- Size:
- 54,129 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:21,958,827-22,012,955
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 54,129 bases
- Orientation:
- Plus strand
- chrX:21,958,691-22,025,798
- (GRCh37/hg19 by Ensembl)
- Size:
- 67,108 bases
- Orientation:
- Plus strand
Genomic View for SMS Gene
Genes around SMS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.11 by HGNC
- Xp22.11 by Entrez Gene
- Xp22.11 by Ensembl
SMS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMS Gene
Proteins for SMS Gene
-
Protein details for SMS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P52788-SPSY_HUMAN
- Recommended name:
- Spermine synthase
- Protein Accession:
- P52788
- A6NHA7
- A6NI34
- B2R9M0
- O00544
- Q9UQS1
Protein attributes for SMS Gene
- Size:
- 366 amino acids
- Molecular mass:
- 41268 Da
- Quaternary structure:
-
- Homodimer. Dimerization is mediated through the N-terminal domain and seems to be required for activity as deletion of the N-terminal domain causes complete loss of activity.
Protein Expression for SMS Gene
Post-translational modifications for SMS Gene
Other Protein References for SMS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SMS
- CF503091
- CF503095
- CF503096
- CF503097
- CF503098
- CF503099
- CF503100
- CF503101
- CF503102
- CF503112
- TA503091
- TA503091S
- TA503095
- TA503095S
- TA503096
- TA503096S
- TA503097
- TA503097S
- TA503098
- TA503098S
- TA503099
- TA503099S
- TA503100
- TA503100S
- TA503101
- TA503101S
- TA503102
- TA503102S
- TA503112
- TA503112S
- TA600119
- TA600120
- TA600121
- TA600122
- TA700119
- TA700120
- TA700121
- TA700122
- TA700140
- Novus Biologicals Antibodies for SMS
-
Abcam antibodies for SMS
- Invitrogen Antibodies for SMS (AFLGC-SMS)
-
Boster Bio Antibodies for SMS
-
Custom Antibody ServicesProSci Antibodies for SMS
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMS
Protein products for research
-
OriGene Purified Proteins for SMS
- Search Origene for MassSpec and Protein Over-expression Lysates for SMS
- Origene Custom Protein Services for SMS
- ProSpec Recombinant Proteins for SMS
- antibodies-online: Show 9 available SMS Proteins ranked by validation data
- Compare Top SMS Proteins
-
Quality Products:
-
Abcam proteins for SMS
Assay products for research
- antibodies-online: Show 3 available SMS Elisa Kits ranked by validation data
- Compare Top SMS Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SMS Gene
Domains & Families for SMS Gene
Gene Families for SMS Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
Protein Domains for SMS Gene
Suggested Antigen Peptide Sequences for SMS Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ50114, highly similar to Spermine synthase (EC 2.5.1.22) (B4DE40_HUMAN)
- Spermidine aminopropyltransferase (SPSY_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P52788UniProtKB/Swiss-Prot:
SPSY_HUMAN :- Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in structure to spermidine synthase. The N- and C-terminal domains are both required for activity.
- Belongs to the spermidine/spermine synthase family.
- Domain:
-
- Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in structure to spermidine synthase. The N- and C-terminal domains are both required for activity.
- Family:
-
- Belongs to the spermidine/spermine synthase family.
Function for SMS Gene
Molecular function for SMS Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-adenosyl 3-(methylsulfanyl)propylamine + spermidine = H(+) + S-methyl-5'-thioadenosine + spermine; Xref=Rhea:RHEA:19973, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:45725, ChEBI:CHEBI:57443, ChEBI:CHEBI:57834; EC=2.5.1.22;.
- GENATLAS Biochemistry:
- spermine synthase,ubiquitously expressed,polyamine blocking the inwardly rectifying K+ channel present in the inner ear,38kb telomeric to PEX,ubiquitous
Enzyme Numbers (IUBMB) for SMS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016768 | spermine synthase activity | IEA,TAS | -- |
Phenotypes for SMS Gene
- MGI mutant phenotypes for SMS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SMS:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- no effect
- Increased shRNA abundance (Z-score > 2)
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Increased homologous recombination repair frequency
- Downregulation of RLR pathway after Sendai virus (SeV) infection
Animal Models for SMS Gene
- MGI Knock Outs for SMS:
-
- Sms Sms<tm1a(EUCOMM)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMS - Starting at $85 >
- * SMS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMS
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMS
miRNA for SMS Gene
- miRTarBase miRNAs that target SMS
-
- hsa-miR-26b-5p (MIRT030218)
- hsa-miR-7-1-3p (MIRT038683)
- hsa-miR-324-3p (MIRT042888)
- hsa-miR-149-5p (MIRT045576)
- mmu-miR-871-5p (MIRT580825)
- mmu-miR-409-3p (MIRT580826)
- mmu-miR-344f-3p (MIRT580827)
- mmu-miR-1955-3p (MIRT580828)
- mmu-miR-709 (MIRT580829)
- hsa-miR-372-5p (MIRT609895)
- hsa-miR-371a-5p (MIRT609896)
- hsa-miR-616-5p (MIRT609897)
- hsa-miR-373-5p (MIRT609898)
- hsa-miR-371b-5p (MIRT609899)
- hsa-miR-3613-3p (MIRT609900)
- hsa-miR-4282 (MIRT609901)
- hsa-miR-6876-3p (MIRT618164)
- hsa-miR-626 (MIRT618165)
- hsa-miR-6516-5p (MIRT682132)
- hsa-miR-6780a-5p (MIRT682133)
- hsa-miR-6779-5p (MIRT682134)
- hsa-miR-3689c (MIRT682135)
- hsa-miR-3689b-3p (MIRT682136)
- hsa-miR-3689a-3p (MIRT682137)
- hsa-miR-30b-3p (MIRT682138)
- hsa-miR-1273h-5p (MIRT682139)
- hsa-miR-455-3p (MIRT682140)
- hsa-miR-6799-5p (MIRT682141)
- hsa-miR-6883-5p (MIRT682142)
- hsa-miR-6785-5p (MIRT682143)
- hsa-miR-4728-5p (MIRT682144)
- hsa-miR-149-3p (MIRT682145)
- hsa-miR-7106-5p (MIRT682146)
- hsa-miR-650 (MIRT682147)
- hsa-miR-3612 (MIRT682148)
- hsa-miR-6499-3p (MIRT682149)
- hsa-miR-2467-3p (MIRT682150)
- hsa-miR-6086 (MIRT682151)
- hsa-miR-377-5p (MIRT682152)
- hsa-miR-1827 (MIRT682153)
- hsa-miR-4468 (MIRT682154)
- hsa-miR-5186 (MIRT682155)
- hsa-miR-3192-5p (MIRT682156)
- hsa-miR-4257 (MIRT682157)
- hsa-miR-4756-3p (MIRT682158)
- hsa-miR-6511a-5p (MIRT682159)
- hsa-miR-1910-3p (MIRT682160)
- hsa-miR-7851-3p (MIRT682161)
- hsa-miR-490-3p (MIRT682162)
- hsa-miR-508-3p (MIRT749607)
- hsa-miR-1273e (MIRT761867)
- hsa-miR-219b-3p (MIRT763925)
- hsa-miR-302f (MIRT764531)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMS
- Browse OriGene Inhibitory RNA Products For SMS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMS
Clone products for research
- Applied Biological Materials (abm): Clones for SMS - Starting at $45 >
- * SMS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SMS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMS
Cell Lines for research
-
Horizon Cell Lines for SMS
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SMS Gene
Localization for SMS Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SMS Gene
Pathways & Interactions for SMS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Urea cycle and metabolism of amino groups | ||
| 3 | Arginine and proline metabolism | ||
| 4 | Sulfur amino acid metabolism | ||
| 5 | Glutathione metabolism | ||
Pathways by source for SMS Gene
3 BioSystems pathways for SMS Gene
3 Reactome pathways for SMS Gene
4 KEGG pathways for SMS Gene
UniProtKB/Swiss-Prot P52788-SPSY_HUMAN
- Pathway: Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.
Interacting Proteins for SMS Gene
GPS-Prot Interaction Network for SMS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006555 | methionine metabolic process | TAS | 7546290 |
| GO:0006595 | polyamine metabolic process | TAS | -- |
| GO:0006596 | polyamine biosynthetic process | IEA | -- |
| GO:0006597 | spermine biosynthetic process | IEA | -- |
| GO:0008215 | spermine metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for SMS Gene
Drugs & Compounds for SMS Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1,3-diaminopropane |
|
109-76-2 | ||||
| N1-acetylspermine |
|
25593-72-0 |
|
|||
| Norspermidine |
|
56-18-8 |
|
|||
| S-Adenosylmethioninamine |
|
22365-13-5 |
|
Transcripts for SMS Gene
mRNA/cDNA for SMS Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379404 1174 nts (view in UCSC)
- ENST00000404933 1703 nts (view in UCSC)
- ENST00000457085 931 nts (view in UCSC)
- ENST00000478094 488 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMS - Starting at $85 >
- * SMS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMS
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMS
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMS
- Browse OriGene Inhibitory RNA Products For SMS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMS
Clone products for research
- Applied Biological Materials (abm): Clones for SMS - Starting at $45 >
- * SMS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SMS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMS
Relevant External Links for SMS Gene
- GeneLoc Exon Structure for
- SMS
Expression for SMS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Brain (Nervous System)
-
Adrenal Gland (Endocrine System)
This gene is overexpressed in Testis (8.9), Ovary (7.4), and Peripheral blood mononuclear cells (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMS Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMS
SOURCE GeneReport for Unigene cluster for SMS Gene:
Hs.724874Evidence on tissue expression from TISSUES for SMS Gene
- Kidney(4.5)
- Intestine(4.4)
- Blood(4.4)
- Skin(4.3)
- Nervous system(4.1)
- Heart(2.5)
- Spleen(2.3)
- Muscle(2.3)
- Liver(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- face
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- testicle
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for SMS
-
OriGene qPCR primer pairs and template standards for SMS
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMS Gene
Orthologs for SMS Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SMS 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SMS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SMS 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sms 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sms 30 17 31 |
|
OneToOne | |
| Sms-ps 17 |
|
|
|||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SMS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SMS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sms 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sms 30 31 |
|
OneToOne | |
| LOC80872 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005325 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4300 30 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPE4 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4694 30 |
|
- Species where no ortholog for SMS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for SMS Gene
- ENSEMBL:
- Gene Tree for SMS (if available)
- TreeFam:
- Gene Tree for SMS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMS: view image
Paralogs for SMS Gene
Pseudogenes.org Pseudogenes for SMS Gene
Variants for SMS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMS Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 620039 | Likely Pathogenic: Smith-Magenis syndrome | 21,978,035(+) |
T/G NM_004595.5(SMS):c.581T>G (p.Val194Gly) |
MISSENSE | |
| 827761 | Pathogenic: Syndromic X-linked intellectual disability Snyder type | 21,978,062(+) |
G/A NM_004595.5(SMS):c.608G>A (p.Gly203Asp) |
MISSENSE | |
| 839310 | Uncertain Significance: not provided | 21,984,397(+) |
A/G NM_004595.5(SMS):c.844A>G (p.Ile282Val) |
MISSENSE | |
| 915295 | Uncertain Significance: Syndromic X-linked intellectual disability Snyder type | 21,940,837(+) |
C/G NM_004595.5(SMS):c.13C>G (p.Arg5Gly) |
MISSENSE | |
| 916028 | Likely Pathogenic: Syndromic X-linked intellectual disability Snyder type | 21,977,141(+) |
A/G NM_004595.5(SMS):c.410A>G (p.Asp137Gly) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3573638 | CNV | loss | 25503493 |
| esv3573639 | CNV | loss | 25503493 |
| nsv1139393 | CNV | deletion | 24896259 |
| nsv1145287 | CNV | deletion | 24896259 |
| nsv425472 | CNV | deletion | 16902084 |
| nsv6832 | CNV | deletion | 18451855 |
| nsv819785 | CNV | loss | 19587683 |
Residual Variation Intolerance Score:
13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.33;
7.32% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMS Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMS Gene
Disorders for SMS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, x-linked, syndromic, snyder-robinson type |
|
|
| syndromic x-linked intellectual disability snyder type |
|
|
| disease of mental health |
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| alacrima, achalasia, and mental retardation syndrome |
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| smith-magenis syndrome |
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Search SMS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPSY_HUMAN- X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]: Characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive. {ECO:0000269 PubMed:14508504, ECO:0000269 PubMed:18550699, ECO:0000269 PubMed:19206178, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:23696453, ECO:0000269 PubMed:23897707}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for SMS
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SMS Gene
Publications for SMS Gene
- X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. (PMID: 14508504) Cason AL … Schwartz CE (European journal of human genetics : EJHG 2003) 2 3 4 26 74
- A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. (PMID: 19206178) Becerra-Solano LE … García-Ortiz JE (American journal of medical genetics. Part A 2009) 3 4 23 74
- New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. (PMID: 18550699) de Alencastro G … Sertié AL (Journal of medical genetics 2008) 3 4 23 74
- Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX. (PMID: 9299240) Grieff M … Mazzarella R (Genomics 1997) 2 3 4 23
- Molecular cloning of a cDNA encoding human spermine synthase. (PMID: 7546290) Korhonen VP … Jänne J (DNA and cell biology 1995) 2 3 4 23
ExternalLinks
Products for SMS Gene
- Custom Antibody ServicesOriGene Antibodies for SMS
- CF503091
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- TA503100
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- TA503101
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- TA503102
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- TA503112
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- TA600119
- TA600120
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- TA600122
- TA700119
- TA700120
- TA700121
- TA700122
- TA700140
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for SMS
- Search Origene for MassSpec and Protein Over-expression Lysates for SMS
- Origene Custom Protein Services for SMS
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMS
- Browse OriGene Inhibitory RNA Products For SMS
- OriGene qPCR primer pairs for SMS
- OriGene qPCR primer pairs and template standards for SMS
- OriGene CRISPR knockouts for SMS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMS
- Sino Biological Human cDNA Clone for SMS
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for SMS
- Novus Biologicals proteins and lysates for SMS
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- Abcam antibodies for SMS
- Abcam proteins for SMS
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- VectorBuilder Custom and pre-made DNA vectors for SMS (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SMS (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SMS (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SMS CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SMS
- antibodies-online: Show 38 available SMS Antibodies ranked by validation data
- Compare Top SMS Antibodies
- antibodies-online: Show 3 available SMS Elisa Kits ranked by validation data
- Compare Top SMS Elisa Kits
- Quality Products:
- antibodies-online: Show 9 available SMS Proteins ranked by validation data
- Compare Top SMS Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for SMS
- Search Santa Cruz Biotechnology (SCBT) for SMS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMS
- Custom Antibody ServicesProSci Antibodies for SMS
- Search for SMS Proteins at ProSci
- Horizon Cell Lines for SMS
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMS
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMS
- Boster Bio Antibodies for SMS
- Browse Boster Bio ELISA Kits
Sources for SMS Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (29) SOURCE
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (73) miRTarBase
- (74) MalaCards
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- (90) CYP
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- (104) diseasecard
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- (154) Biorbyt
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- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB