Description
Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]
Gene Synonyms
EDDM1, HE1, NP-C2
Location
Chromosome 14: 74,942,895-74,960,880 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 9 transcripts (splice variants) and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000555619.1 | NPC2-001 | 1035 | 151aa | ENSP00000451112.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32121 | P61916 | NM_006432.3 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000541064.1 | NPC2-002 | 1436 | 125aa | ENSP00000442488.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DQV7 G3V2V8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000557510.1 | NPC2-007 | 1029 | 174aa | ENSP00000451206.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3E8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000434013.2 | NPC2-003 | 875 | 201aa | ENSP00000412103.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EMS2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000238633.2 | NPC2-008 | 796 | 148aa | ENSP00000238633.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KMY5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000553490.1 | NPC2-006 | 729 | 221aa | ENSP00000451180.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3D1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000556009.1 | NPC2-004 | 699 | 173aa | ENSP00000450502.1 | 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, | |
| ENST00000555592.1 | NPC2-005 | 469 | 122aa | ENSP00000450887.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2V8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000554482.1 | NPC2-009 | 583 | 53aa | ENSP00000451314.1 | Nonsense mediated decay | H0YJE2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, |
