help  | about  | cite  | software

Gene : SPTLC2 Homo sapiens

Name  ? serine palmitoyltransferase long chain base subunit 2 Cytological Location  14q24.3
Brief Description  serine palmitoyltransferase long chain base subunit 2
description  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]
  • synonyms:
  • LCB2,
  • SPT2,
  • HSN1C,
  • SPTLC2,
  • KIAA0526,
  • LCB2A,
  • uc001xub.4,
  • OTTHUMG00000171540,
  • AB011098,
  • NSAN1C,
  • HGNC:11278,
  • LCB2,
  • hLCB2a,
  • LCB2A,
  • hLCB2a,
  • NM_004863
  • identifiers:
  • 9517,
  • ENSG00000100596,
  • SPTLC2

Genome feature

Region: gene ? Length: 110771  
Location: 14:77505997-77616767 reverse strand Cyto location: 14q24.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

783 SN Ps

5 Cross References

19 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results