• Gene id: 9517

Gene Summary

• Gene Symbol: SPTLC2   Gene   UCSC   Ensembl
• Aliases: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
• Gene name: serine palmitoyltransferase long chain base subunit 2
• Alternate names: serine palmitoyltransferase 2, LCB 2, SPT 2, long chain base biosynthesis protein 2a, serine palmitoyltransferase, subunit II, serine-palmitoyl-CoA transferase 2,
• Gene location: 14q24.3 (77616662: 77505996)     Exons: 13     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 300542

Protein Summary

• Protein general information: O15270  
  • 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)
  • Length: 562  
  • Mass: 62924
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MRPEPGGCCCRRTVRANGCVANGEVRNGYVRSSAAAAAAAAAGQIHHVTQNGGLYKRPFNEAFEETPMLVAVLTY
  VGYGVLTLFGYLRDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIME
  RQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVAR
  FLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQ
  PRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMG
  TFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFR
  RRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTAL
  KEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED

• Structural information:
  • Interpro: IPR001917  IPR004839  IPR015424  IPR015422  IPR015421  
  • Prosite: PS00599
  • DIP: 34604
  • STRING: ENSP00000216484
• Other Databases: GeneCards:  SPTLC2  Malacards:  SPTLC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0046512	sphingosine biosynthetic process	IBA	biological process
GO:0017059	serine C-palmitoyltransferase complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IBA	molecular function
GO:0017059	serine C-palmitoyltransferase complex	IDA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0004758	serine C-palmitoyltransferase activity	IDA	molecular function
GO:0030148	sphingolipid biosynthetic process	IDA	biological process
GO:0060612	adipose tissue development	ISS	biological process
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004758	serine C-palmitoyltransferase activity	TAS	molecular function
GO:0004758	serine C-palmitoyltransferase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:1904504	positive regulation of lipophagy	IDA	biological process
GO:0030148	sphingolipid biosynthetic process	IDA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IDA	contributes to
GO:0004758	serine C-palmitoyltransferase activity	IDA	contributes to
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0060612	adipose tissue development	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0046512	sphingosine biosynthetic process	IEA	biological process
GO:0046511	sphinganine biosynthetic process	IEA	biological process
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0006686	sphingomyelin biosynthetic process	IEA	biological process
GO:0004758	serine C-palmitoyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881