SPTLC2 (serine palmitoyltransferase long chain base subunit 2)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9517 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Serine palmitoyltransferase long chain base subunit 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SPTLC2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a |
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Chromosome
Chromosome number
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14 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q24.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 conde |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | O15270 | ||||||||||
| Protein name | Serine palmitoyltransferase 2 (EC 2.3.1.50) (Long chain base biosynthesis protein 2) (LCB 2) (Long chain base biosynthesis protein 2a) (LCB2a) (Serine-palmitoyl-CoA transferase 2) (SPT 2) | ||||||||||
| Protein function | Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain | ||||||||||
| PDB | 6M4N , 6M4O , 7CQI , 7CQK , 7K0I , 7K0J , 7K0K , 7K0L , 7K0M , 7K0N , 7K0O , 7K0P , 7K0Q , 7YIU , 7YIY , 7YJ1 , 7YJ2 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17023427}. | ||||||||||
| Sequence |
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| Sequence length | 562 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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