Gene: SPTLC2 ENSG00000100596

Description

serine palmitoyltransferase, long chain base subunit 2 [Source:HGNC Symbol;Acc:11278]

Gene Synonyms

HSN1C, KIAA0526, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a

Location

GRCh37:CM000676.1

About this gene

This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000216484.2	SPTLC2-001	8170	562aa	ENSP00000216484.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9865	O15270	NM_004863.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000554901.1	SPTLC2-002	1518	407aa	ENSP00000452189.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000556607.1	SPTLC2-005	460	40aa	ENSP00000451029.1	Nonsense mediated decay		H0YJ96	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000556264.1	SPTLC2-006	263	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000554365.1	SPTLC2-004	604	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000557566.1	SPTLC2-003	510	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary