NPC2

Protein identityUniProt · HPA

UniProt accession

P61916

Gene

NPC2

Ensembl

ENSG00000119655

Chromosome

14

Canonical length

151 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters

Secretome location

Secreted to blood

OverviewNCBI Gene

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

151 residues, UniProt reviewed canonical sequence.

>P61916|NPC2
     1  MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT
    61  FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP
   121  SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NPC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

15,839 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NPC2.

Disease | AllUniProt

Conditions NPC2 is implicated in, by any mechanism.

• Niemann-Pick disease C2 (NPC2) MIM:607625

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 306 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Niemann-Pick disease, type C2
• Niemann-Pick disease, type C
• Inborn genetic diseases
• Niemann-Pick disease, type C1
• Fetal anomalies with a likely genetic cause

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.39

gnomAD pLI

0

gnomAD missense Z

1.3

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol efflux
• cholesterol homeostasis
• cholesterol metabolic process
• cholesterol storage
• cholesterol transport
• gene expression
• glycolipid transport
• intracellular cholesterol transport
• intracellular sterol transport
• phospholipid transport
• response to virus
• regulation of isoprenoid metabolic process

Molecular functions

• cholesterol binding
• cholesterol transfer activity
• enzyme binding

Cellular components

• azurophil granule lumen
• endoplasmic reticulum
• extracellular exosome
• extracellular region
• extracellular space
• late endosome
• lysosomal lumen
• lysosome

Protein domainsUniProt · Pfam · InterPro

• MD-2-related lipid-recognition domain
• Immunoglobulin E-set
• ML domain
• Npc2 like, ML domain
• Sterol transport protein NPC2-like

KeywordsUniProt

• Acetylation
• Cholesterol metabolism
• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Lipid metabolism
• Lipid transport
• Lysosome
• Niemann-Pick disease
• Secreted
• Signal
• Steroid metabolism
• Sterol metabolism
• Transport

InteractionsUniProt · HPA

Protein binding partners of NPC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DHDDS
• NEDD4L
• NPC1
• NPC1L1
• NUS1