Official symbol | NPC2 |
Gene id | 10577 |
Organism | Homo sapiens |
Official full symbol | NPC intracellular cholesterol transporter 2 |
Gene type | protein-coding |
Also known as | EDDM1, HE1 |
Summary | This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. |
Genomic regions | Chromosome 14 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
NPC2-209 | ENST00000557510.5 | 1029 | 174aa | Protein coding | CCDS86413 | G3V3E8 | - | TSL:1, GENCODE basic, |
NPC2-207 | ENST00000555619.6 | 821 | 151aa | Protein coding | CCDS32121 | P61916-1 | NM_006432.5 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
NPC2-203 | ENST00000541064.5 | 1436 | 125aa | Protein coding | - | P61916-2 | - | TSL:2, GENCODE basic, |
NPC2-202 | ENST00000434013.6 | 875 | 201aa | Protein coding | - | E7EMS2 | - | TSL:2, GENCODE basic, |
NPC2-201 | ENST00000238633.6 | 796 | 148aa | Protein coding | - | J3KMY5 | - | TSL:3, GENCODE basic, APPRIS ALT1, |
NPC2-204 | ENST00000553490.5 | 729 | 221aa | Protein coding | - | G3V3D1 | - | CDS 3' incomplete, TSL:2, |
NPC2-208 | ENST00000556009.5 | 699 | 173aa | Protein coding | - | H0YIZ1 | - | CDS 5' incomplete, TSL:5, |
NPC2-206 | ENST00000555592.1 | 469 | 122aa | Protein coding | - | G3V2V8 | - | CDS 3' incomplete, TSL:5, |
NPC2-205 | ENST00000554482.1 | 583 | 53aa | Nonsense mediated decay | - | H0YJE2 | - | CDS 5' incomplete, TSL:2, |
Target Gene | NPC2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene NPC2 had been KO in hek293t cell line. |
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