NPC2 (NPC intracellular cholesterol transporter 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NPC2 (NPC intracellular cholesterol transporter 2) Homo sapiens
Analyze
Symbol: NPC2
Name: NPC intracellular cholesterol transporter 2
RGD ID: 1353089
HGNC Page HGNC
Description: Enables cholesterol binding activity; cholesterol transfer activity; and enzyme binding activity. Involved in cholesterol homeostasis; cholesterol transport; and response to virus. Located in extracellular space and lysosome. Implicated in Niemann-Pick disease and Niemann-Pick disease type C2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EDDM1; epididymal protein 1; epididymal secretory protein E1; HE1; human epididymis-specific protein 1; MGC1333; niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; NP-C2; tissue-specific secretory protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,479,935 - 74,493,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1474,476,192 - 74,494,177 (-)EnsemblGRCh38hg38GRCh38
GRCh371474,946,638 - 74,960,215 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,016,396 - 74,029,837 (-)NCBINCBI36hg18NCBI36
Build 341474,016,396 - 74,029,837NCBI
Celera1454,985,030 - 54,998,469 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1455,115,095 - 55,128,528 (-)NCBIHuRef
CHM1_11474,886,183 - 74,899,622 (-)NCBICHM1_1
T2T-CHM13v2.01468,688,905 - 68,702,483 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
ampicillin  (ISO)
Archazolid B  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
curcumin  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
isoflavones  (EXP)
ivermectin  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
metronidazole  (ISO)
miconazole  (ISO)
neomycin  (ISO)
nimesulide  (ISO)
ouabain  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenylpropanolamine  (EXP)
potassium dichromate  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
sodium fluoride  (ISO)
tamibarotene  (EXP)
tetrachloromethane  (ISO)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G, etal., Am J Hum Genet. 2001 Nov;69(5):1013-21. Epub 2001 Sep 20.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1693137   PMID:8125298   PMID:8418812   PMID:8924505   PMID:10479477   PMID:11125141   PMID:12125814   PMID:12398991   PMID:12447927   PMID:12477932   PMID:12591949   PMID:12719428  
PMID:14662784   PMID:15110773   PMID:15489334   PMID:15937921   PMID:16141411   PMID:16374838   PMID:16548883   PMID:16606609   PMID:16772431   PMID:17018531   PMID:17387528   PMID:17470133  
PMID:17895371   PMID:18029348   PMID:18636124   PMID:18772377   PMID:18823126   PMID:19252935   PMID:19664597   PMID:19723497   PMID:19746448   PMID:19913121   PMID:20007703   PMID:20301334  
PMID:20301473   PMID:20351267   PMID:20628086   PMID:20650896   PMID:20674861   PMID:21084287   PMID:21253586   PMID:21740003   PMID:21811417   PMID:21873635   PMID:22095670   PMID:22179027  
PMID:22183894   PMID:22273177   PMID:22939629   PMID:22962690   PMID:22990118   PMID:23022198   PMID:23376485   PMID:23533145   PMID:23733943   PMID:23791309   PMID:23814065   PMID:24001314  
PMID:24438076   PMID:24501203   PMID:24709320   PMID:24915861   PMID:24981860   PMID:25220527   PMID:25251378   PMID:25754535   PMID:25764212   PMID:26186194   PMID:26296895   PMID:26846330  
PMID:27238017   PMID:27339554   PMID:27402802   PMID:27533706   PMID:27551080   PMID:27792009   PMID:27940359   PMID:28095804   PMID:28205170   PMID:28514442   PMID:28808920   PMID:28865947  
PMID:29053956   PMID:29084218   PMID:29874879   PMID:30091016   PMID:30181526   PMID:31521631   PMID:31580258   PMID:32353859   PMID:32544384   PMID:33001583   PMID:33060197   PMID:33422548  
PMID:33545068   PMID:33723331   PMID:33961781   PMID:33990640   PMID:34420959   PMID:34445279   PMID:34685683   PMID:34709727   PMID:35271311  


Genomics

Comparative Map Data
NPC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,479,935 - 74,493,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1474,476,192 - 74,494,177 (-)EnsemblGRCh38hg38GRCh38
GRCh371474,946,638 - 74,960,215 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,016,396 - 74,029,837 (-)NCBINCBI36hg18NCBI36
Build 341474,016,396 - 74,029,837NCBI
Celera1454,985,030 - 54,998,469 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1455,115,095 - 55,128,528 (-)NCBIHuRef
CHM1_11474,886,183 - 74,899,622 (-)NCBICHM1_1
T2T-CHM13v2.01468,688,905 - 68,702,483 (-)NCBI
Npc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391284,801,333 - 84,819,886 (-)NCBIGRCm39mm39
GRCm39 Ensembl1284,801,336 - 84,819,926 (-)Ensembl
GRCm381284,754,559 - 84,773,112 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1284,754,562 - 84,773,152 (-)EnsemblGRCm38mm10GRCm38
MGSCv371286,095,509 - 86,114,062 (-)NCBIGRCm37mm9NCBIm37
MGSCv361285,644,307 - 85,662,860 (-)NCBImm8
Celera1286,210,583 - 86,229,366 (-)NCBICelera
Cytogenetic Map12D1NCBI
Npc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26104,397,239 - 104,418,161 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl6104,378,644 - 104,418,155 (-)Ensembl
Rnor_6.06108,467,410 - 108,488,330 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6108,467,410 - 108,488,330 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06117,060,860 - 117,081,780 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46108,793,935 - 108,814,703 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16108,797,391 - 108,818,159 (-)NCBI
Celera6102,222,115 - 102,243,035 (-)NCBICelera
Cytogenetic Map6q31NCBI
Npc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555231,010,976 - 1,021,144 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555231,010,976 - 1,021,048 (+)NCBIChiLan1.0ChiLan1.0
NPC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11473,875,856 - 73,894,628 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1473,875,889 - 73,894,628 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01455,033,129 - 55,046,564 (-)NCBIMhudiblu_PPA_v0panPan3
NPC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1847,641,185 - 47,650,543 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl847,628,077 - 47,650,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha847,325,075 - 47,334,437 (-)NCBI
ROS_Cfam_1.0847,868,101 - 47,877,468 (-)NCBI
ROS_Cfam_1.0 Ensembl847,866,650 - 47,877,427 (-)Ensembl
UMICH_Zoey_3.1847,539,316 - 47,548,676 (-)NCBI
UNSW_CanFamBas_1.0847,560,539 - 47,569,881 (-)NCBI
UU_Cfam_GSD_1.0847,958,527 - 47,967,885 (-)NCBI
Npc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864028,392,518 - 28,404,797 (+)NCBI
SpeTri2.0NW_0049364883,664,171 - 3,676,438 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl797,730,514 - 97,740,331 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1797,730,532 - 97,740,087 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27103,573,100 - 103,582,358 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12451,685,699 - 51,700,557 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2451,685,609 - 51,700,557 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605339,920,625 - 39,935,553 (-)NCBIVero_WHO_p1.0
Npc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473427,166,880 - 27,177,229 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473427,166,867 - 27,177,229 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH65075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,961,890 - 74,962,024UniSTSGRCh37
Build 361474,031,643 - 74,031,777RGDNCBI36
Celera1455,000,275 - 55,000,409RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,130,334 - 55,130,468UniSTS
SHGC-132103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,946,693 - 74,946,972UniSTSGRCh37
Build 361474,016,446 - 74,016,725RGDNCBI36
Celera1454,985,080 - 54,985,359RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,115,145 - 55,115,424UniSTS
TNG Radiation Hybrid Map1427062.0UniSTS
SHGC-12718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,946,672 - 74,946,970UniSTSGRCh37
Build 361474,016,425 - 74,016,723RGDNCBI36
Celera1454,985,059 - 54,985,357RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,115,124 - 55,115,422UniSTS
Stanford-G3 RH Map142732.0UniSTS
NCBI RH Map14819.8UniSTS
GeneMap99-G3 RH Map142780.0UniSTS
G38283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,949,144 - 74,949,381UniSTSGRCh37
Build 361474,018,897 - 74,019,134RGDNCBI36
Celera1454,987,531 - 54,987,768RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,117,596 - 55,117,833UniSTS
RH70872  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24.3UniSTS
GeneMap99-GB4 RH Map14194.26UniSTS
NCBI RH Map14822.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1826
Count of miRNA genes:783
Interacting mature miRNAs:917
Transcripts:ENST00000238633, ENST00000434013, ENST00000541064, ENST00000553490, ENST00000554482, ENST00000555592, ENST00000555619, ENST00000556009, ENST00000557510
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 29 1 1 1 35 42
Medium 2439 2902 1661 590 1936 431 3959 1716 3200 419 1425 1557 175 1 1204 2390 6 2
Low 89 36 33 15 33 398 481 533 14 398
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000238633   ⟹   ENSP00000238633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,479,942 - 74,493,291 (-)Ensembl
RefSeq Acc Id: ENST00000434013   ⟹   ENSP00000412103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,476,192 - 74,493,307 (-)Ensembl
RefSeq Acc Id: ENST00000541064   ⟹   ENSP00000442488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,479,223 - 74,493,281 (-)Ensembl
RefSeq Acc Id: ENST00000553490   ⟹   ENSP00000451180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,480,082 - 74,493,339 (-)Ensembl
RefSeq Acc Id: ENST00000554482   ⟹   ENSP00000451314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,479,942 - 74,493,242 (-)Ensembl
RefSeq Acc Id: ENST00000555592   ⟹   ENSP00000450887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,484,411 - 74,493,608 (-)Ensembl
RefSeq Acc Id: ENST00000555619   ⟹   ENSP00000451112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,479,940 - 74,493,305 (-)Ensembl
RefSeq Acc Id: ENST00000556009   ⟹   ENSP00000450502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,480,096 - 74,494,177 (-)Ensembl
RefSeq Acc Id: ENST00000557510   ⟹   ENSP00000451206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,480,187 - 74,493,347 (-)Ensembl
RefSeq Acc Id: NM_001363688   ⟹   NP_001350617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,479,935 - 74,493,512 (-)NCBI
T2T-CHM13v2.01468,688,905 - 68,702,483 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375440   ⟹   NP_001362369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,479,940 - 74,493,305 (-)NCBI
T2T-CHM13v2.01468,688,910 - 68,702,276 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006432   ⟹   NP_006423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,479,940 - 74,493,305 (-)NCBI
GRCh371474,942,900 - 74,960,084 (-)NCBI
Build 361474,016,396 - 74,029,837 (-)NCBI Archive
HuRef1455,115,095 - 55,128,528 (-)ENTREZGENE
CHM1_11474,886,183 - 74,899,622 (-)NCBI
T2T-CHM13v2.01468,688,910 - 68,702,276 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006423   ⟸   NM_006432
- Peptide Label: isoform 2 precursor
- UniProtKB: P61916 (UniProtKB/Swiss-Prot),   A0A024R6C0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350617   ⟸   NM_001363688
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001362369   ⟸   NM_001375440
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: ENSP00000451112   ⟸   ENST00000555619
RefSeq Acc Id: ENSP00000442488   ⟸   ENST00000541064
RefSeq Acc Id: ENSP00000450887   ⟸   ENST00000555592
RefSeq Acc Id: ENSP00000450502   ⟸   ENST00000556009
RefSeq Acc Id: ENSP00000451206   ⟸   ENST00000557510
RefSeq Acc Id: ENSP00000412103   ⟸   ENST00000434013
RefSeq Acc Id: ENSP00000238633   ⟸   ENST00000238633
RefSeq Acc Id: ENSP00000451180   ⟸   ENST00000553490
RefSeq Acc Id: ENSP00000451314   ⟸   ENST00000554482
Protein Domains
ML

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61916-F1-model_v2 AlphaFold P61916 1-151 view protein structure

Promoters
RGD ID:6791774
Promoter ID:HG_KWN:19787
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006432,   NM_194279
Position:
Human AssemblyChrPosition (strand)Source
Build 361474,029,641 - 74,030,412 (-)MPROMDB
RGD ID:6851306
Promoter ID:EP73451
Type:initiation region
Name:HS_NPC2
Description:Niemann-Pick disease, type C2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361474,029,760 - 74,029,820EPD
RGD ID:7228135
Promoter ID:EPDNEW_H19814
Type:initiation region
Name:NPC2_1
Description:NPC intracellular cholesterol transporter 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,493,305 - 74,493,365EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) single nucleotide variant Niemann-Pick disease, type C [RCV001193595]|Niemann-Pick disease, type C2 [RCV000020643] Chr14:74486386 [GRCh38]
Chr14:74953089 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV000020644] Chr14:74486378 [GRCh38]
Chr14:74953081 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.27del (p.Leu10fs) deletion Niemann-Pick disease, type C2 [RCV000020645] Chr14:74493248 [GRCh38]
Chr14:74959951 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) single nucleotide variant Niemann-Pick disease, type C2 [RCV000020646] Chr14:74484483 [GRCh38]
Chr14:74951186 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.332del (p.Asn111fs) deletion Niemann-Pick disease, type C2 [RCV000020647] Chr14:74484446 [GRCh38]
Chr14:74951149 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) single nucleotide variant Niemann-Pick disease, type C [RCV000586093]|Niemann-Pick disease, type C2 [RCV000008998] Chr14:74493217 [GRCh38]
Chr14:74959920 [GRCh37]
Chr14:14q24.3
pathogenic
NPC2, 1-BP DEL, 111A deletion Niemann-Pick disease, type C2 [RCV000008999] Chr14:14q24.3 pathogenic
NM_006432.5(NPC2):c.190+5G>A single nucleotide variant Niemann-Pick disease, type C2 [RCV000009000] Chr14:74486324 [GRCh38]
Chr14:74953027 [GRCh37]
Chr14:14q24.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) single nucleotide variant Niemann-Pick disease, type C [RCV001193596]|Niemann-Pick disease, type C2 [RCV000009001] Chr14:74484426 [GRCh38]
Chr14:74951129 [GRCh37]
Chr14:14q24.3
pathogenic
NPC2, 1-BP DEL, 27G deletion Niemann-Pick disease type C2 [RCV000009002] Chr14:14q24.3 pathogenic
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) single nucleotide variant Niemann-Pick disease, type C2 [RCV000009003] Chr14:74484579 [GRCh38]
Chr14:74951282 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.115G>A (p.Val39Met) single nucleotide variant Niemann-Pick disease, type C2 [RCV000009004] Chr14:74486404 [GRCh38]
Chr14:74953107 [GRCh37]
Chr14:14q24.3
pathogenic
NPC2, IVS1DS, T-C, +2 single nucleotide variant Niemann-Pick disease type C2 [RCV000009005] Chr14:14q24.3 pathogenic
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV000009006] Chr14:74480707 [GRCh38]
Chr14:74947410 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) single nucleotide variant Niemann-Pick disease, type C1 [RCV001528117]|Niemann-Pick disease, type C2 [RCV000009007] Chr14:74484420 [GRCh38]
Chr14:74951123 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.441+1G>A single nucleotide variant Niemann-Pick disease, type C1 [RCV001121868]|Niemann-Pick disease, type C2 [RCV000087100]|not provided [RCV000153589] Chr14:74480701 [GRCh38]
Chr14:74947404 [GRCh37]
Chr14:14q24.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) single nucleotide variant Niemann-Pick disease, type C2 [RCV000119339] Chr14:74493272 [GRCh38]
Chr14:74959975 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_006432.5(NPC2):c.88G>A (p.Val30Met) single nucleotide variant Global developmental delay [RCV000162102]|Niemann-Pick disease, type C2 [RCV001080727]|not provided [RCV000675984]|not specified [RCV000362578] Chr14:74486431 [GRCh38]
Chr14:74953134 [GRCh37]
Chr14:14q24.3
likely pathogenic|benign|likely benign
NM_006432.5(NPC2):c.442-4A>C single nucleotide variant Niemann-Pick disease, type C1 [RCV000320741]|Niemann-Pick disease, type C2 [RCV001081149]|not provided [RCV000675983]|not specified [RCV000178919] Chr14:74480292 [GRCh38]
Chr14:74946995 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_006432.5(NPC2):c.191-1_193del deletion Niemann-Pick disease, type C2 [RCV000670585] Chr14:74484585..74484588 [GRCh38]
Chr14:74951288..74951291 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.82+2T>C single nucleotide variant Niemann-Pick disease, type C2 [RCV000234869] Chr14:74493191 [GRCh38]
Chr14:74959894 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) microsatellite Niemann-Pick disease, type C2 [RCV000670563] Chr14:74480721..74480723 [GRCh38]
Chr14:74947424..74947426 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.1A>G (p.Met1Val) single nucleotide variant Niemann-Pick disease, type C2 [RCV000670039] Chr14:74493274 [GRCh38]
Chr14:74959977 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.190+14G>A single nucleotide variant Niemann-Pick disease, type C1 [RCV000371703]|Niemann-Pick disease, type C2 [RCV001519265]|not provided [RCV001528642]|not specified [RCV000248498] Chr14:74486315 [GRCh38]
Chr14:74953018 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_006432.5(NPC2):c.*237G>A single nucleotide variant Niemann-Pick disease, type C1 [RCV000265200] Chr14:74480037 [GRCh38]
Chr14:74946740 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001363688.1(NPC2):c.-89G>A single nucleotide variant Niemann-Pick disease, type C [RCV000351037] Chr14:74493363 [GRCh38]
Chr14:74960066 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001363688.1(NPC2):c.-68G>T single nucleotide variant Niemann-Pick disease, type C [RCV000296165] Chr14:74493342 [GRCh38]
Chr14:74960045 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) single nucleotide variant Niemann-Pick disease, type C2 [RCV000763944]|not provided [RCV000338408] Chr14:74484507 [GRCh38]
Chr14:74951210 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.*295C>G single nucleotide variant Niemann-Pick disease, type C1 [RCV000323864] Chr14:74479979 [GRCh38]
Chr14:74946682 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.450T>C (p.His150=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001085986]|not provided [RCV000382282] Chr14:74480280 [GRCh38]
Chr14:74946983 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006432.5(NPC2):c.363+7G>A single nucleotide variant Niemann-Pick disease, type C1 [RCV000375313]|Niemann-Pick disease, type C2 [RCV000611646]|not provided [RCV001579721]|not specified [RCV000593664] Chr14:74484408 [GRCh38]
Chr14:74951111 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_006432.5(NPC2):c.453C>G (p.Leu151=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001859664]|not provided [RCV000385115] Chr14:74480277 [GRCh38]
Chr14:74946980 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.*271C>T single nucleotide variant Niemann-Pick disease, type C1 [RCV000378361]|not provided [RCV001590940] Chr14:74480003 [GRCh38]
Chr14:74946706 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) single nucleotide variant Niemann-Pick disease, type C1 [RCV000335990]|Niemann-Pick disease, type C2 [RCV000818277]|not provided [RCV000595194] Chr14:74484566 [GRCh38]
Chr14:74951269 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.270T>C (p.Pro90=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001414410]|not provided [RCV000295328] Chr14:74484508 [GRCh38]
Chr14:74951211 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_006432.5(NPC2):c.414C>A (p.Leu138=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001278149] Chr14:74480729 [GRCh38]
Chr14:74947432 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) single nucleotide variant Niemann-Pick disease, type C2 [RCV001278148] Chr14:74480276 [GRCh38]
Chr14:74946979 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.*9T>C single nucleotide variant Niemann-Pick disease, type C1 [RCV001121867]|not provided [RCV001726255]|not specified [RCV000591868] Chr14:74480265 [GRCh38]
Chr14:74946968 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_006432.5(NPC2):c.264T>C (p.Pro88=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001472552]|not provided [RCV000592569] Chr14:74484514 [GRCh38]
Chr14:74951217 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_006432.5(NPC2):c.168C>T (p.Ser56=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001460030]|not provided [RCV000593331] Chr14:74486351 [GRCh38]
Chr14:74953054 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_006432.5(NPC2):c.*2T>G single nucleotide variant not provided [RCV000593577] Chr14:74480272 [GRCh38]
Chr14:74946975 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.191-8T>C single nucleotide variant Niemann-Pick disease, type C2 [RCV001505967]|not provided [RCV000732566] Chr14:74484595 [GRCh38]
Chr14:74951298 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_006432.5(NPC2):c.240C>T (p.Gly80=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001578732]|not provided [RCV000734821] Chr14:74484538 [GRCh38]
Chr14:74951241 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys) single nucleotide variant not provided [RCV000729307] Chr14:74484426 [GRCh38]
Chr14:74951129 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006432.5(NPC2):c.292A>C (p.Asn98His) single nucleotide variant Niemann-Pick disease, type C2 [RCV000763943]|not provided [RCV000439975] Chr14:74484486 [GRCh38]
Chr14:74951189 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV000668992] Chr14:74480721 [GRCh38]
Chr14:74947424 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) single nucleotide variant Niemann-Pick disease, type C2 [RCV000668937] Chr14:74493273 [GRCh38]
Chr14:74959976 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_006432.5(NPC2):c.442-1G>A single nucleotide variant Niemann-Pick disease, type C2 [RCV000671920] Chr14:74480289 [GRCh38]
Chr14:74946992 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) single nucleotide variant Niemann-Pick disease, type C2 [RCV000665380] Chr14:74484445 [GRCh38]
Chr14:74951148 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.364-2A>G single nucleotide variant Niemann-Pick disease, type C2 [RCV000665605] Chr14:74480781 [GRCh38]
Chr14:74947484 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) single nucleotide variant Niemann-Pick disease, type C2 [RCV000664587] Chr14:74486379 [GRCh38]
Chr14:74953082 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) single nucleotide variant Niemann-Pick disease, type C2 [RCV000673729] Chr14:74493272 [GRCh38]
Chr14:74959975 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_006432.5(NPC2):c.364-8T>G single nucleotide variant Niemann-Pick disease, type C2 [RCV001400264]|not provided [RCV000979059] Chr14:74480787 [GRCh38]
Chr14:74947490 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q24.3(chr14:74040231-76368547) copy number loss not provided [RCV000767572] Chr14:74040231..76368547 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.57C>T (p.Ala19=) single nucleotide variant Niemann-Pick disease, type C2 [RCV000964527] Chr14:74493218 [GRCh38]
Chr14:74959921 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.222G>C (p.Val74=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001460950]|not provided [RCV000981143] Chr14:74484556 [GRCh38]
Chr14:74951259 [GRCh37]
Chr14:14q24.3
likely benign
NC_000014.9:g.(?_74480254)_(74486456_?)del deletion Niemann-Pick disease, type C2 [RCV000811363] Chr14:74480254..74486456 [GRCh38]
Chr14:74946957..74953159 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.363+154A>G single nucleotide variant not provided [RCV000840500] Chr14:74484261 [GRCh38]
Chr14:74950964 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.363+117_363+118insAGC insertion not provided [RCV000840499] Chr14:74484297..74484298 [GRCh38]
Chr14:74951000..74951001 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) single nucleotide variant Niemann-Pick disease, type C1 [RCV001115296]|Niemann-Pick disease, type C2 [RCV001239530] Chr14:74493219 [GRCh38]
Chr14:74959922 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.79dup (p.Cys27fs) duplication Niemann-Pick disease, type C2 [RCV000796954] Chr14:74493195..74493196 [GRCh38]
Chr14:74959898..74959899 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001170047] Chr14:74486362 [GRCh38]
Chr14:74953065 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.191-260G>A single nucleotide variant not provided [RCV001564215] Chr14:74484847 [GRCh38]
Chr14:74951550 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.191-187_191-186insG insertion not provided [RCV001608528] Chr14:74484773..74484774 [GRCh38]
Chr14:74951476..74951477 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) single nucleotide variant Niemann-Pick disease, type C2 [RCV001580747] Chr14:74484500 [GRCh38]
Chr14:74951203 [GRCh37]
Chr14:14q24.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_006432.5(NPC2):c.273T>C (p.Asp91=) single nucleotide variant Niemann-Pick disease, type C1 [RCV001115295]|Niemann-Pick disease, type C2 [RCV000887835]|not provided [RCV001531810] Chr14:74484505 [GRCh38]
Chr14:74951208 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_006432.5(NPC2):c.82+295G>A single nucleotide variant not provided [RCV001561779] Chr14:74492898 [GRCh38]
Chr14:74959601 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.191-187_191-186insTTG insertion not provided [RCV001569729] Chr14:74484773..74484774 [GRCh38]
Chr14:74951476..74951477 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.*154G>A single nucleotide variant not provided [RCV001732406] Chr14:74480120 [GRCh38]
Chr14:74946823 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.441+193dup duplication not provided [RCV001577953] Chr14:74480497..74480498 [GRCh38]
Chr14:74947200..74947201 [GRCh37]
Chr14:14q24.3
likely benign
NM_001363688.1(NPC2):c.-162T>C single nucleotide variant not provided [RCV001558870] Chr14:74493436 [GRCh38]
Chr14:74960139 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.441+68C>T single nucleotide variant not provided [RCV001592433] Chr14:74480634 [GRCh38]
Chr14:74947337 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.*115C>T single nucleotide variant Niemann-Pick disease, type C1 [RCV001121865] Chr14:74480159 [GRCh38]
Chr14:74946862 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.*86G>A single nucleotide variant Niemann-Pick disease, type C1 [RCV001121866] Chr14:74480188 [GRCh38]
Chr14:74946891 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.*252del deletion not provided [RCV001567617] Chr14:74480022 [GRCh38]
Chr14:74946725 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) single nucleotide variant Niemann-Pick disease, type C2 [RCV001039143] Chr14:74486350 [GRCh38]
Chr14:74953053 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) duplication Niemann-Pick disease, type C2 [RCV001061725] Chr14:74484564..74484565 [GRCh38]
Chr14:74951267..74951268 [GRCh37]
Chr14:14q24.3
pathogenic
NC_000014.9:g.(?_74480264)_(74493284_?)del deletion Niemann-Pick disease, type C2 [RCV001031821] Chr14:74946967..74959987 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001278150] Chr14:74486354 [GRCh38]
Chr14:74953057 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001263847] Chr14:74484421 [GRCh38]
Chr14:74951124 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001263850] Chr14:74484481 [GRCh38]
Chr14:74951184 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001263848] Chr14:74484444 [GRCh38]
Chr14:74951147 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001263851] Chr14:74486377 [GRCh38]
Chr14:74953080 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001263849] Chr14:74484474 [GRCh38]
Chr14:74951177 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.455A>G (p.Ter152=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001391989] Chr14:74480275 [GRCh38]
Chr14:74946978 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.-1G>C single nucleotide variant Niemann-Pick disease, type C2 [RCV001278152] Chr14:74493275 [GRCh38]
Chr14:74959978 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) single nucleotide variant Niemann-Pick disease, type C2 [RCV001278151] Chr14:74493217 [GRCh38]
Chr14:74959920 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.9C>T (p.Phe3=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001396485] Chr14:74493266 [GRCh38]
Chr14:74959969 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.441+9A>G single nucleotide variant Niemann-Pick disease, type C2 [RCV001494349] Chr14:74480693 [GRCh38]
Chr14:74947396 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.318C>G (p.Thr106=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001435607] Chr14:74484460 [GRCh38]
Chr14:74951163 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.370C>T (p.Leu124=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001483582] Chr14:74480773 [GRCh38]
Chr14:74947476 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.330G>C (p.Leu110=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001434221] Chr14:74484448 [GRCh38]
Chr14:74951151 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.45C>A (p.Thr15=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001398388] Chr14:74493230 [GRCh38]
Chr14:74959933 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.216C>T (p.Ala72=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001444503] Chr14:74484562 [GRCh38]
Chr14:74951265 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) duplication Niemann-Pick disease, type C2 [RCV001388699] Chr14:74484498..74484499 [GRCh38]
Chr14:74951201..74951202 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.83-4G>A single nucleotide variant Niemann-Pick disease, type C2 [RCV001447724] Chr14:74486440 [GRCh38]
Chr14:74953143 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.364-10C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV001442817] Chr14:74480789 [GRCh38]
Chr14:74947492 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.191-10T>C single nucleotide variant Niemann-Pick disease, type C2 [RCV001403004] Chr14:74484597 [GRCh38]
Chr14:74951300 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.372G>C (p.Leu124=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001457154] Chr14:74480771 [GRCh38]
Chr14:74947474 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.183C>T (p.Phe61=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001465640] Chr14:74486336 [GRCh38]
Chr14:74953039 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.442-101G>T single nucleotide variant not provided [RCV001591629] Chr14:74480389 [GRCh38]
Chr14:74947092 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.442-4A>G single nucleotide variant Niemann-Pick disease, type C2 [RCV001459123] Chr14:74480292 [GRCh38]
Chr14:74946995 [GRCh37]
Chr14:14q24.3
likely benign
Single allele deletion not provided [RCV001696151] Chr14:74493666..74493667 [GRCh38]
Chr14:74960369..74960370 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.191-14dup duplication Niemann-Pick disease, type C2 [RCV001512580] Chr14:74484594..74484595 [GRCh38]
Chr14:74951297..74951298 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.191-186T>G single nucleotide variant not provided [RCV001715831] Chr14:74484773 [GRCh38]
Chr14:74951476 [GRCh37]
Chr14:14q24.3
benign
NM_006432.5(NPC2):c.150C>T (p.Ser50=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001453433] Chr14:74486369 [GRCh38]
Chr14:74953072 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.25C>T (p.Leu9=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001477841] Chr14:74493250 [GRCh38]
Chr14:74959953 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.207C>T (p.Ser69=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001505687] Chr14:74484571 [GRCh38]
Chr14:74951274 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.442-8A>C single nucleotide variant Niemann-Pick disease, type C2 [RCV001497274] Chr14:74480296 [GRCh38]
Chr14:74946999 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
NM_006432.5(NPC2):c.82+6dup duplication Niemann-Pick disease, type C2 [RCV001478856] Chr14:74493183..74493184 [GRCh38]
Chr14:74959886..74959887 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.21A>G (p.Thr7=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001400751] Chr14:74493254 [GRCh38]
Chr14:74959957 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.51C>A (p.Ala17=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001466516] Chr14:74493224 [GRCh38]
Chr14:74959927 [GRCh37]
Chr14:14q24.3
likely benign
NC_000014.8:g.(?_74959886)_(74959987_?)del deletion Niemann-Pick disease, type C2 [RCV001387710] Chr14:74959886..74959987 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) single nucleotide variant Niemann-Pick disease, type C2 [RCV002032783]|not provided [RCV001757977] Chr14:74484516 [GRCh38]
Chr14:74951219 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) single nucleotide variant Niemann-Pick disease, type C2 [RCV001806310] Chr14:74484481 [GRCh38]
Chr14:74951184 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) single nucleotide variant Niemann-Pick disease, type C2 [RCV001970713] Chr14:74484587 [GRCh38]
Chr14:74951290 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) single nucleotide variant Niemann-Pick disease, type C2 [RCV001896743] Chr14:74480762 [GRCh38]
Chr14:74947465 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.83-19A>G single nucleotide variant Niemann-Pick disease, type C2 [RCV001872164] Chr14:74486455 [GRCh38]
Chr14:74953158 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) single nucleotide variant Niemann-Pick disease, type C2 [RCV001966904] Chr14:74484576 [GRCh38]
Chr14:74951279 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) single nucleotide variant Niemann-Pick disease, type C2 [RCV001965655] Chr14:74480737 [GRCh38]
Chr14:74947440 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001970052] Chr14:74486413 [GRCh38]
Chr14:74953116 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) single nucleotide variant Niemann-Pick disease, type C2 [RCV001909621] Chr14:74486433 [GRCh38]
Chr14:74953136 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3 copy number gain not provided [RCV001827622] Chr14:74490251..75116040 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) single nucleotide variant Niemann-Pick disease, type C2 [RCV001963172] Chr14:74486354 [GRCh38]
Chr14:74953057 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.351C>T (p.Ser117=) single nucleotide variant Niemann-Pick disease, type C2 [RCV001880390] Chr14:74484427 [GRCh38]
Chr14:74951130 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.364-3C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV001976825] Chr14:74480782 [GRCh38]
Chr14:74947485 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.190+4C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV001877945] Chr14:74486325 [GRCh38]
Chr14:74953028 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) single nucleotide variant Niemann-Pick disease, type C2 [RCV001878129] Chr14:74484473 [GRCh38]
Chr14:74951176 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.281dup (p.Ser95fs) duplication Niemann-Pick disease, type C2 [RCV001953743] Chr14:74484496..74484497 [GRCh38]
Chr14:74951199..74951200 [GRCh37]
Chr14:14q24.3
pathogenic
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) single nucleotide variant Niemann-Pick disease, type C2 [RCV002031362] Chr14:74480706 [GRCh38]
Chr14:74947409 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.82+6C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV001981046] Chr14:74493187 [GRCh38]
Chr14:74959890 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) single nucleotide variant Niemann-Pick disease, type C2 [RCV001906649] Chr14:74486359 [GRCh38]
Chr14:74953062 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) single nucleotide variant Niemann-Pick disease, type C2 [RCV002015465] Chr14:74493237 [GRCh38]
Chr14:74959940 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.12G>A (p.Leu4=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002051204] Chr14:74493263 [GRCh38]
Chr14:74959966 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_006432.5(NPC2):c.83-15A>G single nucleotide variant Niemann-Pick disease, type C2 [RCV002090678] Chr14:74486451 [GRCh38]
Chr14:74953154 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.27G>A (p.Leu9=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002204984] Chr14:74493248 [GRCh38]
Chr14:74959951 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.318C>T (p.Thr106=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002188228] Chr14:74484460 [GRCh38]
Chr14:74951163 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.429C>A (p.Ile143=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002209186] Chr14:74480714 [GRCh38]
Chr14:74947417 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.82+7C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV002104431] Chr14:74493186 [GRCh38]
Chr14:74959889 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.441+9A>T single nucleotide variant Niemann-Pick disease, type C2 [RCV002208952] Chr14:74480693 [GRCh38]
Chr14:74947396 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.327C>T (p.Tyr109=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002074588] Chr14:74484451 [GRCh38]
Chr14:74951154 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.312C>T (p.Asp104=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002148200] Chr14:74484466 [GRCh38]
Chr14:74951169 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.69G>A (p.Gln23=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002110985] Chr14:74493206 [GRCh38]
Chr14:74959909 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.63G>A (p.Pro21=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002092804] Chr14:74493212 [GRCh38]
Chr14:74959915 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.453C>T (p.Leu151=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002187220] Chr14:74480277 [GRCh38]
Chr14:74946980 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.82+15C>G single nucleotide variant Niemann-Pick disease, type C2 [RCV002075517] Chr14:74493178 [GRCh38]
Chr14:74959881 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.364-13T>C single nucleotide variant Niemann-Pick disease, type C2 [RCV002166609] Chr14:74480792 [GRCh38]
Chr14:74947495 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.190+6dup duplication Niemann-Pick disease, type C2 [RCV002095435] Chr14:74486322..74486323 [GRCh38]
Chr14:74953025..74953026 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.364-11T>C single nucleotide variant Niemann-Pick disease, type C2 [RCV002116513] Chr14:74480790 [GRCh38]
Chr14:74947493 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.129C>T (p.Pro43=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002113645] Chr14:74486390 [GRCh38]
Chr14:74953093 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.27G>C (p.Leu9=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002201878] Chr14:74493248 [GRCh38]
Chr14:74959951 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.216C>A (p.Ala72=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002155322] Chr14:74484562 [GRCh38]
Chr14:74951265 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.222G>A (p.Val74=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002083026] Chr14:74484556 [GRCh38]
Chr14:74951259 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.190+17C>G single nucleotide variant Niemann-Pick disease, type C2 [RCV002083154] Chr14:74486312 [GRCh38]
Chr14:74953015 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.30C>T (p.Leu10=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002154252] Chr14:74493245 [GRCh38]
Chr14:74959948 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.82+9C>T single nucleotide variant Niemann-Pick disease, type C2 [RCV002219076] Chr14:74493184 [GRCh38]
Chr14:74959887 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.191-7C>G single nucleotide variant Niemann-Pick disease, type C2 [RCV002120702] Chr14:74484594 [GRCh38]
Chr14:74951297 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.375G>A (p.Val125=) single nucleotide variant Niemann-Pick disease, type C2 [RCV002181318] Chr14:74480768 [GRCh38]
Chr14:74947471 [GRCh37]
Chr14:14q24.3
likely benign
NM_006432.5(NPC2):c.363+16_363+18del microsatellite Niemann-Pick disease, type C2 [RCV002119160] Chr14:74484397..74484399 [GRCh38]
Chr14:74951100..74951102 [GRCh37]
Chr14:14q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14537 AgrOrtholog
COSMIC NPC2 COSMIC
Ensembl Genes ENSG00000119655 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000238633.2 UniProtKB/TrEMBL
  ENSP00000412103.2 UniProtKB/TrEMBL
  ENSP00000442488 ENTREZGENE
  ENSP00000442488.1 UniProtKB/Swiss-Prot
  ENSP00000450502.1 UniProtKB/TrEMBL
  ENSP00000450887.1 UniProtKB/TrEMBL
  ENSP00000451112 ENTREZGENE
  ENSP00000451112.2 UniProtKB/Swiss-Prot
  ENSP00000451180.1 UniProtKB/TrEMBL
  ENSP00000451206 ENTREZGENE
  ENSP00000451206.1 UniProtKB/TrEMBL
  ENSP00000451314.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000238633.6 UniProtKB/TrEMBL
  ENST00000434013.6 UniProtKB/TrEMBL
  ENST00000541064 ENTREZGENE
  ENST00000541064.5 UniProtKB/Swiss-Prot
  ENST00000553490.5 UniProtKB/TrEMBL
  ENST00000554482.1 UniProtKB/TrEMBL
  ENST00000555592.1 UniProtKB/TrEMBL
  ENST00000555619 ENTREZGENE
  ENST00000555619.6 UniProtKB/Swiss-Prot
  ENST00000556009.5 UniProtKB/TrEMBL
  ENST00000557510 ENTREZGENE
  ENST00000557510.5 UniProtKB/TrEMBL
GTEx ENSG00000119655 GTEx
HGNC ID HGNC:14537 ENTREZGENE
Human Proteome Map NPC2 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ML_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ML_Npc2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10577 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10577 ENTREZGENE
OMIM 601015 OMIM
  607625 OMIM
PANTHER PTHR11306 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E1_DerP2_DerF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31700 PharmGKB
SMART SM00737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6C0 ENTREZGENE, UniProtKB/TrEMBL
  E7EMS2_HUMAN UniProtKB/TrEMBL
  G3V2V8_HUMAN UniProtKB/TrEMBL
  G3V3D1_HUMAN UniProtKB/TrEMBL
  G3V3E8_HUMAN UniProtKB/TrEMBL
  H0YIZ1_HUMAN UniProtKB/TrEMBL
  H0YJE2_HUMAN UniProtKB/TrEMBL
  J3KMY5_HUMAN UniProtKB/TrEMBL
  NPC2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DQV7 UniProtKB/Swiss-Prot
  Q15668 UniProtKB/Swiss-Prot
  Q29413 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 NPC2  NPC intracellular cholesterol transporter 2    Niemann-Pick disease, type C2  Symbol and/or name change 5135510 APPROVED
2011-08-16 NPC2  Niemann-Pick disease, type C2  NPC2  Niemann-Pick disease, type C2  Symbol and/or name change 5135510 APPROVED