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 |
---|---|---|---|---|---|---|---|---|---|
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, | |
ENST00000555619.1 | NPC2-001 | 1035 | 151aa | ENSP00000451112.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32121 | P61916 | NM_006432.3 | 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, |