| Gene Information | |
|---|---|
| Gene Name | NPC2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 151 |
| Protein Names | NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis-specific protein 1) (He1) (Niemann-Pick disease type C2 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000119655 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | P61916 |
| Gene Card | NPC2 |
| Uniprot ID | P61916 |
| Pfam | PF02221 |
| In ASD | no |
| Allosteric Prediction | no (-0.372527379) |
| Ortholog in Animals | Alpaca_ NPC2 ( ortholog_one2one ) Dog_ NPC2 ( ortholog_one2many ) GuineaPig_ NPC2 ( ortholog_one2one ) Macaque_ NPC2 ( ortholog_one2one ) Mouse_ Npc2 ( ortholog_one2one ) Pig_ NPC2 ( ortholog_one2one ) Rat_ Npc2 ( ortholog_one2one ) Rabbit_ NPC2 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis. {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:19664597, ECO:0000269|PubMed:21315718}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5KWY (X-ray 2.40A ) 6W5V (EM 4.00A ) |
| DBSNP | rs151220873 rs80358261 rs1555345993 rs11694 rs4688 rs143960270 rs80358264 rs104894458 |
| Subcellular location [CC] | Secreted {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000269|PubMed:21315718}. Endoplasmic reticulum {ECO:0000269|PubMed:19723497}. Lysosome {ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000305|PubMed:11125141}. Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. {ECO:0000305|PubMed:11125141}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |