serine palmitoyltransferase long chain base subunit 2

Summary
Gene Symbol
  • SPTLC2
Aliases
  • KIAA0526
  • LCB2
  • LCB2A
  • hLCB2a
Organism
Homo sapiens (human)
External Links
NCBI Gene
9517
HGNC
11278
KEGG Gene ID
hsa:9517
PubChem
9517
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Disease variant
  • Endoplasmic reticulum
  • Neurodegeneration
  • Neuropathy
  • Pyridoxal phosphate
  • Reference proteome
  • Sphingolipid metabolism
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
O15270
  • Long chain base biosynthesis protein 2
  • Long chain base biosynthesis protein 2a
  • Serine-palmitoyl-CoA transferase 2
A0A024R6H1
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 84 in total
DO ID Disease Name Source
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050548 hereditary sensory neuropathy
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070152 hereditary sensory and autonomic neuropathy type 1A
DOID:0070157 hereditary sensory and autonomic neuropathy type 1C
DOID:0070161 hereditary sensory and autonomic neuropathy type 2
DOID:0070162 hereditary sensory and autonomic neuropathy type 1
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy
DOID:0110148 Charcot-Marie-Tooth disease type 1A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 45 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000365 Hearing impairment
HP:0000962 Hyperkeratosis
HP:0000970 Anhidrosis
HP:0001026 Penetrating foot ulcers
HP:0001058 Poor wound healing
HP:0001324 Muscle weakness
HP:0002020 Gastroesophageal reflux
HP:0002141 Gait imbalance
HP:0002166 Impaired vibration sensation in the lower limbs
Displaying all 2 entries
Disease ID Disease Name
ORPHA:36386
  • hereditary sensory and autonomic neuropathy type 1
OMIM:613640
  • neuropathy, hereditary sensory and autonomic, type 1C
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001190
Gene Name
serine palmitoyltransferase, long chain base subunit 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024