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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. NPC2, Niemann-Pick disease, type C2
Sequence ID:NM_006432
RefSeqGene ID:NG_007117
Entrez Gene ID:10577
Ensembl ID:ENSG00000119655

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pineal gland, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
NIEMANN-PICK DISEASE, TYPE C2 

Cytogenetic Location (from UniGene)

Cytogenetic Location:14q24.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:14: 74946671 - 74960004

NM_006432 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
263737494664374946990
3744517494740474947481
4526247495111774951289
6257327495303174953138
7339217495989574960083

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3140870Full LengthBC002532Niemann-Pick disease, type C2

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_006423  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_006432 NP_006423 P61916 E1_DerP2_DerF2

Related Sequences

 
mRNAGenPeptSwissProt
BC002532 AAH02532 P61916
DQ891907 ABM82833  
DQ895093 ABM86019  
AK222474 BAD96194 Q53HV6
AK311931 BAG34872 B2R4S5
AK298975 BAG61069 B4DQV7
AK300879 BAG62522 B4DV10
X67698 CAA47928 P61916

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens NPC2 NP_006423 M.musculus Npc2 67963 Gene Info NP_075898 81
R.norvegicus Npc2 286898   NP_775141 81
D.melanogaster Npc2a 33374   NP_608637 38

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)