Aliases for SPTLC2 Gene
Aliases for SPTLC2 Gene
External Ids for SPTLC2 Gene
- HGNC: 11278
- Entrez Gene: 9517
- Ensembl: ENSG00000100596
- OMIM: 605713
- UniProtKB: O15270
Previous GeneCards Identifiers for SPTLC2 Gene
- GC14M075479
- GC14M071790
- GC14M075963
- GC14M077043
- GC14M077973
- GC14M058139
Summaries for SPTLC2 Gene
-
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
GeneCards Summary for SPTLC2 Gene
SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) is a Protein Coding gene. Diseases associated with SPTLC2 include Neuropathy, Hereditary Sensory And Autonomic, Type Ic and Neuropathy, Hereditary Sensory, Type Ie. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC3.
UniProtKB/Swiss-Prot for SPTLC2 Gene
-
Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.
Additional gene information for SPTLC2 Gene
- Monarch Initiative
- Search for SPTLC2 at DataMed
- Search for SPTLC2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTLC2 Gene
Genomics for SPTLC2 Gene
GeneHancer (GH) Regulatory Elements for SPTLC2 Gene
Promoters and enhancers for SPTLC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SPTLC2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SPTLC2 gene promoter:
Regulatory Element Products
Genomic Locations for SPTLC2 Gene
Genomic Locations for SPTLC2 Gene
- chr14:77,505,997-77,616,773
- (GRCh38/hg38)
- Size:
- 110,777 bases
- Orientation:
- Minus strand
- chr14:77,972,340-78,083,116
- (GRCh37/hg19)
Genomic View for SPTLC2 Gene
Genes around SPTLC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.3 by Ensembl
- 14q24.3 by Entrez Gene
- 14q24.3 by HGNC
SPTLC2 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 SPTLC2 Gene
Proteins for SPTLC2 Gene
-
Protein details for SPTLC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15270-SPTC2_HUMAN
- Recommended name:
- Serine palmitoyltransferase 2
- Protein Accession:
- O15270
- Q16685
Protein attributes for SPTLC2 Gene
- Size:
- 562 amino acids
- Molecular mass:
- 62924 Da
- Cofactor:
- Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
- Quaternary structure:
-
- Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB).
- SequenceCaution:
-
- Sequence=BAA25452.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SPTLC2 Gene
Selected DME Specific Peptides for SPTLC2 Gene
- O15270:
-
- RNLYMRIRD
- LFGYLRDF
- YGQPRTRR
- VVVVGFPAT
- VINMGSYN
- EGIYSMEG
- HSHSAVYA
- SLVLGARLSGATIRIFKHNN
- DSPVVPL
- ALKKKYKAYLY
- SDELNHAS
- YSMEGSIV
- MGTFTKSF
- SYNYLGFA
- GMGFATNSMNIPALVGKGCLILSDELNH
- LYQDFENFY
Post-translational modifications for SPTLC2 Gene
Other Protein References for SPTLC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SPTLC2
- Novus Biologicals Antibodies for SPTLC2
-
Abcam antibodies for SPTLC2
- Invitrogen Antibodies for SPTLC2
- GeneTex SPTLC2 antibody for SPTLC2
-
Custom Antibody ServicesProSci Antibodies for SPTLC2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPTLC2
Protein Products
-
OriGene Purified Proteins for SPTLC2
- Search Origene for MassSpec and Protein Over-expression Lysates for SPTLC2
- Origene Custom Protein Services for SPTLC2
- antibodies-online: Search results for 5 available SPTLC2 Proteins ranked by validation data
- Compare Top SPTLC2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SPTLC2
-
Abcam proteins for SPTLC2
Assay Products
- antibodies-online: Search results for 5 available SPTLC2 Elisa Kits ranked by validation data
- Compare Top SPTLC2 Elisa Kits
-
Quality Products:
Domains & Families for SPTLC2 Gene
Gene Families for SPTLC2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for SPTLC2 Gene
Suggested Antigen Peptide Sequences for SPTLC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O15270UniProtKB/Swiss-Prot:
SPTC2_HUMAN :- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
- Family:
-
- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Function for SPTLC2 Gene
Molecular function for SPTLC2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).
- UniProtKB/Swiss-Prot Function:
- Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.
Enzyme Numbers (IUBMB) for SPTLC2 Gene
Phenotypes From GWAS Catalog for SPTLC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004758 | serine C-palmitoyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
| GO:0030170 | pyridoxal phosphate binding | IEA | -- |
Phenotypes for SPTLC2 Gene
- MGI mutant phenotypes for SPTLC2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SPTLC2:
-
- Increased viability
- shRNA abundance <= 50%
- Decreased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased cell number in S
- Weakly decreased NFAT1-GFP nuclear translocation
Animal Models for SPTLC2 Gene
- MGI Knock Outs for SPTLC2:
-
- Sptlc2 tm1Jia
Animal Model Products
-
Taconic Biosciences Mouse Models for SPTLC2
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTLC2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SPTLC2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTLC2 gene
- Search ViGene Biosciences for SPTLC2
CRISPR Products
-
OriGene CRISPR knockouts for SPTLC2
- genomics-online: gRNA clones - Search results for available SPTLC2 gene related products
- Applied Biological Materials CRISPR for SPTLC2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC2
- GenScript: Design CRISPR guide RNA sequences for SPTLC2
miRNA for SPTLC2 Gene
- miRTarBase miRNAs that target SPTLC2
-
- hsa-mir-3187-3p (MIRT519461)
- hsa-mir-4435 (MIRT519462)
- hsa-mir-588 (MIRT519463)
- hsa-mir-4701-5p (MIRT519464)
- hsa-mir-548s (MIRT519465)
- hsa-mir-6788-3p (MIRT519466)
- hsa-mir-6832-5p (MIRT519467)
- hsa-mir-6086 (MIRT519468)
- hsa-mir-377-5p (MIRT519469)
- hsa-mir-655-5p (MIRT519470)
- hsa-mir-6088 (MIRT519471)
- hsa-mir-4770 (MIRT519472)
- hsa-mir-143-3p (MIRT519473)
- hsa-mir-4716-5p (MIRT519474)
- hsa-mir-4494 (MIRT519475)
- hsa-mir-4781-3p (MIRT519476)
- hsa-mir-4639-5p (MIRT532602)
- hsa-mir-5581-3p (MIRT532603)
- hsa-mir-340-5p (MIRT532604)
- hsa-mir-210-5p (MIRT532605)
- hsa-mir-4749-3p (MIRT532606)
- hsa-mir-6810-3p (MIRT532607)
- hsa-mir-6801-3p (MIRT532608)
- hsa-mir-6872-3p (MIRT532609)
- hsa-mir-330-3p (MIRT532610)
- hsa-mir-5590-3p (MIRT532611)
- hsa-mir-142-5p (MIRT532612)
- hsa-mir-548p (MIRT532613)
- hsa-mir-93-5p (MIRT532614)
- hsa-mir-526b-3p (MIRT532615)
- hsa-mir-519d-3p (MIRT532616)
- hsa-mir-20b-5p (MIRT532617)
- hsa-mir-20a-5p (MIRT532618)
- hsa-mir-17-5p (MIRT532619)
- hsa-mir-106b-5p (MIRT532620)
- hsa-mir-106a-5p (MIRT532621)
- hsa-mir-6507-3p (MIRT532622)
- hsa-mir-887-5p (MIRT545707)
- hsa-mir-6780a-5p (MIRT545708)
- hsa-mir-6779-5p (MIRT545709)
- hsa-mir-3689c (MIRT545710)
- hsa-mir-3689b-3p (MIRT545711)
- hsa-mir-3689a-3p (MIRT545712)
- hsa-mir-30b-3p (MIRT545713)
- hsa-mir-1273h-5p (MIRT545714)
- hsa-mir-6788-5p (MIRT545715)
- hsa-mir-30c-2-3p (MIRT545716)
- hsa-mir-30c-1-3p (MIRT545717)
- hsa-mir-6505-5p (MIRT545718)
- hsa-mir-466 (MIRT545719)
- hsa-mir-4672 (MIRT545720)
- hsa-mir-3941 (MIRT545721)
- hsa-mir-8085 (MIRT545722)
- hsa-mir-6731-5p (MIRT545723)
- hsa-mir-6878-5p (MIRT545724)
- hsa-mir-3189-3p (MIRT545725)
- hsa-mir-4801 (MIRT545726)
- hsa-mir-4731-3p (MIRT545727)
- hsa-mir-548ao-3p (MIRT545728)
- hsa-mir-3667-5p (MIRT545729)
- hsa-mir-4694-3p (MIRT545730)
- hsa-mir-129-5p (MIRT638203)
- hsa-mir-8055 (MIRT638204)
- hsa-mir-6864-3p (MIRT638205)
- hsa-mir-3672 (MIRT638206)
- hsa-mir-6867-3p (MIRT638207)
- hsa-mir-642a-5p (MIRT638208)
- hsa-mir-4524a-3p (MIRT638209)
- hsa-mir-4685-3p (MIRT638210)
- hsa-mir-4287 (MIRT638211)
- hsa-mir-7113-3p (MIRT638212)
- hsa-mir-4469 (MIRT638213)
- hsa-mir-2276-5p (MIRT638214)
- hsa-mir-6892-3p (MIRT638215)
- hsa-mir-1228-3p (MIRT638216)
- hsa-mir-5007-5p (MIRT638217)
- hsa-mir-4797-5p (MIRT638218)
- hsa-mir-215-3p (MIRT763848)
- hsa-mir-5586-3p (MIRT774779)
- hsa-mir-5693 (MIRT775045)
- hsa-mir-6499-3p (MIRT776375)
- hsa-mir-6773-3p (MIRT778718)
- hsa-mir-891a-3p (MIRT782624)
- hsa-mir-1200 (MIRT783122)
- hsa-mir-183-3p (MIRT783974)
- hsa-mir-3663-5p (MIRT785067)
- hsa-mir-378a-5p (MIRT785384)
- hsa-mir-4452 (MIRT785909)
- hsa-mir-4635 (MIRT786242)
- hsa-mir-4755-3p (MIRT786626)
- hsa-mir-6131 (MIRT788078)
- hsa-mir-6513-3p (MIRT788310)
- hsa-mir-6790-3p (MIRT788742)
- hsa-mir-6807-5p (MIRT788859)
- hsa-mir-6821-3p (MIRT788955)
miRNA Products
- Search ViGene Biosciences for SPTLC2
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTLC2
- Browse OriGene Inhibitory RNA Products For SPTLC2
- genomics-online: shRNA clones - Search results for available SPTLC2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTLC2 gene
Clone Products
- Sino Biological Human cDNA Clone for SPTLC2
- VectorBuilder custom plasmid, inducible vectors for SPTLC2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTLC2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SPTLC2 gene related products
- orf clones - Search results for available SPTLC2 gene related products
- Applied Biological Materials Clones for SPTLC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPTLC2
-
ViGene Biosciences adenoviral particle packaged cDNA for SPTLC2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SPTLC2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTLC2 gene
No data available for Transcription Factor Targets and HOMER Transcription for SPTLC2 Gene
Localization for SPTLC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPTLC2 Gene
- Endoplasmic reticulum membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| nucleus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SPTLC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Sphingolipid signaling pathway | ||
Pathways by source for SPTLC2 Gene
2 BioSystems pathways for SPTLC2 Gene
4 Reactome pathways for SPTLC2 Gene
3 KEGG pathways for SPTLC2 Gene
UniProtKB/Swiss-Prot O15270-SPTC2_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for SPTLC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0006686 | sphingomyelin biosynthetic process | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0009058 | biosynthetic process | IEA | -- |
No data available for SIGNOR curated interactions for SPTLC2 Gene
Drugs & Compounds for SPTLC2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 17 | ||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| Coenzyme A | Investigational | Nutra | 0 | |||
| Myriocin | Pharma | 0 | ||||
| L-Serine | Pharma | Full agonist, Agonist | Weak endogenous glycine receptor agonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| hexadecanoyl-CoA |
|
|
|
|||
| Palmityl-CoA |
|
1763-10-6 |
|
Transcripts for SPTLC2 Gene
mRNA/cDNA for SPTLC2 Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (284) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SPTLC2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SPTLC2
- genomics-online: gRNA clones - Search results for available SPTLC2 gene related products
- Applied Biological Materials CRISPR for SPTLC2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC2
- GenScript: Design CRISPR guide RNA sequences for SPTLC2
miRNA Products
- Search ViGene Biosciences for SPTLC2
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTLC2
- Browse OriGene Inhibitory RNA Products For SPTLC2
- genomics-online: shRNA clones - Search results for available SPTLC2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SPTLC2 gene
Clone Products
- Sino Biological Human cDNA Clone for SPTLC2
- VectorBuilder custom plasmid, inducible vectors for SPTLC2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTLC2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SPTLC2 gene related products
- orf clones - Search results for available SPTLC2 gene related products
- Applied Biological Materials Clones for SPTLC2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SPTLC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Lung (Respiratory System)
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for SPTLC2 Gene
This gene is overexpressed in Whole Blood (x6.1).
This gene is overexpressed in Bone (15.0), Peripheral blood mononuclear cells (13.8), and Breast (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPTLC2 Gene
NURSA nuclear receptor signaling pathways regulating expression of SPTLC2 Gene:
SPTLC2SOURCE GeneReport for Unigene cluster for SPTLC2 Gene:
Hs.435661mRNA Expression by UniProt/SwissProt for SPTLC2 Gene:
O15270-SPTC2_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for SPTLC2 Gene
- Nervous system(4.7)
- Pancreas(4.1)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTLC2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for SPTLC2
-
OriGene qPCR primer pairs for SPTLC2
- genomics-online: primer clones - Search results for available SPTLC2 gene related products
Gene Expression Assay Products
Orthologs for SPTLC2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPTLC2 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPTLC2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPTLC2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sptlc2 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SPTLC2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sptlc2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPTLC2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPTLC2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SPTLC2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sptlc2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2338 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sptlc2b 34 |
|
OneToMany | |
| sptlc2a 33 34 |
|
||||
| Dr.16885 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007941 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | lace 33 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sptl-2 33 34 |
|
||
| F43H9.2b 35 |
|
|
|||
| F43H9.2a 35 |
|
|
|||
| T22G5.5 35 |
|
|
|||
| sptl-3 34 |
|
ManyToMany | |||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D02134g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB2 33 34 36 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR127C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | LCB2 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.2016 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0928800 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.11007 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.2702 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.13752 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU00447 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | lcb2 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.835 33 |
|
- Species where no ortholog for SPTLC2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- 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 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Paralogs for SPTLC2 Gene
(1) SIMAP similar genes for SPTLC2 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for SPTLC2 Gene
Variants for SPTLC2 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10132095 | benign, Hereditary sensory and autonomic neuropathy type IC | 77,507,639(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs10147023 | benign, Hereditary sensory and autonomic neuropathy type IC | 77,509,582(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1027765004 | uncertain-significance, Hereditary sensory and autonomic neuropathy type IC | 77,616,739(-) | T/C | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1042510037 | uncertain-significance, Hereditary sensory and autonomic neuropathy type IC | 77,506,266(-) | T/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1063270 | benign, Hereditary sensory and autonomic neuropathy type IC | 77,508,760(-) | T/G | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759998 | CNV | gain | 17122850 |
| esv3309823 | CNV | mobile element insertion | 20981092 |
| esv3340561 | CNV | insertion | 20981092 |
| esv3358343 | CNV | insertion | 20981092 |
| esv3635007 | CNV | loss | 21293372 |
| esv7096 | OTHER | inversion | 19470904 |
| nsv1051554 | CNV | loss | 25217958 |
| nsv1053810 | CNV | gain | 25217958 |
| nsv1118537 | CNV | duplication | 24896259 |
| nsv832835 | CNV | gain | 17160897 |
| nsv85432 | CNV | deletion | 16902084 |
Residual Variation Intolerance Score:
17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.73;
32.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPTLC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTLC2 Gene
Disorders for SPTLC2 Gene
(4) MalaCards diseases for SPTLC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory and autonomic, type ic |
|
|
| neuropathy, hereditary sensory, type ie |
|
|
| hereditary sensory neuropathy |
|
|
| neuropathy |
|
|
Search SPTLC2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPTC2_HUMAN- Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. {ECO:0000269 PubMed:20920666, ECO:0000269 PubMed:23658386}. Note=The disease is caused by mutations affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386). {ECO:0000269 PubMed:23658386}.
Additional Disease Information for SPTLC2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SPTLC2 Gene
Publications for SPTLC2 Gene
- Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PMID: 9363775) Weiss B … Stoffel W (European journal of biochemistry 1997) 2 3 4 22 58
- Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. (PMID: 8921873) Nagiec MM … Dickson RC (Gene 1996) 2 3 4 22 58
- Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. (PMID: 23658386) Murphy SM … Reilly MM (Neurology 2013) 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (PMID: 20920666) Rotthier A … Timmerman V (American journal of human genetics 2010) 3 4 58
Products for SPTLC2 Gene
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- Custom Antibody ServicesOriGene Antibodies for SPTLC2
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- Novus Biologicals Antibodies for SPTLC2
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for SPTLC2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SPTLC2
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTLC2
- VectorBuilder custom plasmid, inducible vectors for SPTLC2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPTLC2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 74 available SPTLC2 Antibodies ranked by validation data
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- antibodies-online: Search results for 5 available SPTLC2 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 5 available SPTLC2 Proteins ranked by validation data
- Compare Top SPTLC2 Proteins
- Quality Products:
- GeneTex SPTLC2 antibody for SPTLC2
- Search GeneTex for Proteins for SPTLC2
- ViGene Biosciences adenoviral particle packaged cDNA for SPTLC2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SPTLC2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SPTLC2 gene
- Search ViGene Biosciences for SPTLC2
- Santa Cruz Biotechnology (SCBT) Antibodies for SPTLC2
- Search Santa Cruz Biotechnology (SCBT) for SPTLC2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC2
- Custom Antibody ServicesProSci Antibodies for SPTLC2
- Search for SPTLC2 Proteins at ProSci
- Horizon Cell Lines for SPTLC2
- genomics-online: cdna clones - Search results for available SPTLC2 gene related products
- orf clones - Search results for available SPTLC2 gene related products
- genomics-online: gRNA clones - Search results for available SPTLC2 gene related products
- genomics-online: primer clones - Search results for available SPTLC2 gene related products
- genomics-online: shRNA clones - Search results for available SPTLC2 gene related products
Sources for SPTLC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
