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Niemann-Pick type C-2a

Summary

Gene Symbol

Npc2a

Organism

Drosophila melanogaster (fruit fly)

External Links

NCBI Gene

33374

PubChem

33374

Alliance of Genome Resources

FB:FBgn0031381

Annotation

Keyword

Disulfide bond
Glycoprotein
Reference proteome
Secreted
Signal
Steroid biosynthesis

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9VQ62	Niemann Pick type C2 protein homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
synaptic target recognition	IMP	18817735

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

hormone biosynthetic process [inference]

ecdysteroid biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

small molecule biosynthetic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

hormone metabolic process [inference]

hormone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

small molecule metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

small molecule biosynthetic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

ecdysteroid biosynthetic process

cellular process [inference]

cell recognition [inference]

neuron recognition [inference]

synaptic target recognition

cellular metabolic process [inference]

cellular ketone metabolic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

cellular biosynthetic process [inference]

ketone biosynthetic process [inference]

ecdysteroid biosynthetic process

cellular localization [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport [inference]

intracellular cholesterol transport

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport [inference]

intracellular cholesterol transport

organic substance transport [inference]

lipid transport [inference]

sterol transport

cholesterol transport [inference]

intracellular cholesterol transport

intracellular sterol transport [inference]

intracellular cholesterol transport

intracellular lipid transport [inference]

intracellular sterol transport [inference]

intracellular cholesterol transport

organic hydroxy compound transport [inference]

sterol transport

cholesterol transport [inference]

intracellular cholesterol transport

intracellular sterol transport [inference]

intracellular cholesterol transport

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport [inference]

intracellular cholesterol transport

cellular localization [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport [inference]

intracellular cholesterol transport

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of response to stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of defense response to bacterium

positive regulation of defense response [inference]

positive regulation of defense response to bacterium

positive regulation of response to external stimulus [inference]

positive regulation of defense response to bacterium

regulation of response to stimulus [inference]

regulation of response to biotic stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of defense response to bacterium

regulation of defense response to bacterium [inference]

positive regulation of defense response to bacterium

regulation of response to external stimulus [inference]

positive regulation of response to external stimulus [inference]

positive regulation of defense response to bacterium

regulation of defense response to bacterium [inference]

positive regulation of defense response to bacterium

positive regulation of response to stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of defense response to bacterium

positive regulation of defense response [inference]

positive regulation of defense response to bacterium

positive regulation of response to external stimulus [inference]

positive regulation of defense response to bacterium

regulation of response to stress [inference]

regulation of defense response [inference]

positive regulation of defense response [inference]

positive regulation of defense response to bacterium

regulation of defense response to bacterium [inference]

positive regulation of defense response to bacterium

regulation of biological quality [inference]

regulation of hormone levels [inference]

hormone metabolic process [inference]

hormone biosynthetic process [inference]

ecdysteroid biosynthetic process

ecdysteroid metabolic process [inference]

ecdysteroid biosynthetic process

Displaying 1 entry
GO Term	Evidence Code	PMID
extracellular space	IDA	22580186

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular space

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cholesterol transfer activity	ISS
sterol binding	IBA IEA ISS	17804599
lipoteichoic acid binding	IDA	22580186
cholesterol binding	ISS
lipopolysaccharide binding	IDA	22580186

GO Hierarchy

molecular function

transporter activity [inference]

lipid transporter activity [inference]

sterol transporter activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

lipid transfer activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

binding [inference]

antigen binding [inference]

lipid antigen binding

lipid binding [inference]

lipopolysaccharide binding

steroid binding [inference]

cholesterol binding

lipid antigen binding

small molecule binding [inference]

alcohol binding [inference]

cholesterol binding

organic cyclic compound binding [inference]

steroid binding [inference]

cholesterol binding

carbohydrate derivative binding [inference]

lipopolysaccharide binding

glycosaminoglycan binding [inference]

peptidoglycan binding

lipoteichoic acid binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

NPC intracellular cholesterol transporter 2

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
cholesterol binding
cholesterol efflux
intracellular cholesterol transport
sterol transport

Displaying **all 3** entries
InterPro
Immunoglobulin E-set
MD-2-related lipid-recognition domain
Sterol transport protein NPC2-like

Alliance of Genome Resources

Expression

Displaying 1 entry
Location	References
extracellular space	PMID:22580186

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0070114	Niemann-Pick disease type C2	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease	Alliance of Genome Resources

Ortholog

Displaying entries **11 - 20** of 49 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila erecta	6542017	7220_1:0018ae
Drosophila grimshawi	6570226	7222_1:000fb8
Drosophila mojavensis	6576261	7230_1:0019a6
Drosophila mojavensis	6578131	7230_1:001eed
Drosophila persimilis	6588951	7234_0:001c42
Drosophila sechellia	6617432	7238_1:000470
Drosophila virilis	6628353	7244_1:0029a8
Drosophila willistoni	6643774	7260_0:0016ad
Drosophila simulans	6730629	7240_1:000a19
Drosophila suzukii	108007855	28584_1:00011d

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024