Gene: npc2 ENSDARG00000090912

Description

Niemann-Pick disease, type C2 [Source:NCBI gene;Acc:282673]

Gene Synonyms

cb292, sb:cb292

Location

GRCz11:CM002901.2

About this gene

This gene has 3 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 66 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSDART00000050399.9	npc2-201	1023	149aa	ENSDARP00000050398.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	Q9DGJ3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENSDART00000132754.2	npc2-202	803	149aa	ENSDARP00000113663.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	Q9DGJ3	APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENSDART00000139875.3	npc2-203	886	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron	-	-

Summary