Gene

sptlc2a

ID
ZDB-GENE-050522-23
Name
serine palmitoyltransferase, long chain base subunit 2a
Symbol
sptlc2a Nomenclature History
Previous Names
  • sptlc2
  • zgc:110661
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process and sphingosine biosynthetic process. Predicted to localize to serine C-palmitoyltransferase complex. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 1C. Orthologous to human SPTLC2 (serine palmitoyltransferase long chain base subunit 2).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sptlc2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary sensory and autonomic neuropathy type 1C Alliance Neuropathy, hereditary sensory and autonomic, type IC 613640
Associated With sptlc2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
Domain IPR004839 Aminotransferase, class I/classII
Homologous_superfamily IPR015421 Pyridoxal phosphate-dependent transferase, major domain
Homologous_superfamily IPR015422 Pyridoxal phosphate-dependent transferase domain 1
Homologous_superfamily IPR015424 Pyridoxal phosphate-dependent transferase
Domain Details Per Protein
Protein Length Aminotransferase, class I/classII Aminotransferase, class-II, pyridoxal-phosphate binding site Pyridoxal phosphate-dependent transferase Pyridoxal phosphate-dependent transferase domain 1 Pyridoxal phosphate-dependent transferase, major domain
UniProtKB:F8W491 236
UniProtKB:F1QCX4 558
UniProtKB:Q503F0 534
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations