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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. HEXB, hexosaminidase B (beta polypeptide)
Sequence ID:NM_000521
RefSeqGene ID:NG_009770
Entrez Gene ID:3074
Ensembl ID:ENSG00000049860

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, pineal 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
SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS 

Cytogenetic Location (from UniGene)

Cytogenetic Location:5q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:5: 73981027 - 74017113

 Exon Info From UCSC:
NM_000521

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
2967035Full LengthBC017378hexosaminidase B (beta polypeptide)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000512  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000521 NP_000512 P07686 EC 3.2.1.52 Glyco_hydro_20
Glyco_hydro_20b

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M13519 AAA51828 P07686 EC 3.2.1.52
M34906 AAA51829 P07686 EC 3.2.1.52
M19735 AAA68620 P07686 EC 3.2.1.52
BC017378 AAH17378 P07686 EC 3.2.1.52
AF378118 AAM46114 P07686 EC 3.2.1.52
BT009919 AAP88921 P07686 EC 3.2.1.52
AY643499 AAV48875 Q5URX0  
JF432353 ADZ15570    

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 HEXB NP_000512 M.musculus Hexb 15212 Gene Info NP_034552 77
R.norvegicus Hexb 294673   NP_001011946 75
C.elegans hex-1 180533   NP_508409 47
A.gambiae AgaP_AGAP010056 1279486   XP_319210 46
A.thaliana HEXO1 824692   NP_567017 36

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