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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. SBDS, Shwachman-Bodian-Diamond syndrome
Sequence ID:NM_016038
RefSeqGene ID:NG_007277
Entrez Gene ID:51119
Ensembl ID:ENSG00000126524

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: 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, skin, soft tissue, stem cell, stomach, 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
SHWACHMAN-BODIAN-DIAMOND SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:7q11.21Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:7: 66453327 - 66460574

NM_016038 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
17976645268966453485
7989626645612366456287
96311636645820366458403
116412936645919866459327
129416056646027666460587

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6202199Full LengthBC065700Shwachman-Bodian-Diamond syndrome

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_057122  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_016038 NP_057122 Q9Y3A5 SBDS

Related Sequences

 
mRNAGenPeptSwissProt
AF151855 AAD34092 Q9Y3A5
BC065700 AAH65700 Q9Y3A5
AY169963 AAN77490 Q9Y3A5
HQ447454 ADQ31940  
AK001779 BAA91905 Q9Y3A5
AK289609 BAF82298 Q9Y3A5

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 SBDS NP_057122 M.musculus Sbds 66711 Gene Info NP_075737 97
R.norvegicus Sbds 288615   NP_001008290 97
A.gambiae AgaP_AGAP007882 3291609   XP_317609 67
D.melanogaster CG8549 38749   NP_648057 60
C.elegans sbds-1 175218   NP_497226 57
A.thaliana AT1G43860 840982   NP_564488 52
S.pombe SPAC4F8.03 2543459   NP_593869 51
N.crassa NCU00476 3872942   XP_956795 50
S.cerevisiae SDO1 850709   NP_013122 43

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