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Sbds
Gene Detail
Symbol

Name
ID
Sbds
Shwachman-Bodian-Diamond syndrome homolog (human)
MGI:1913961
Synonyms
4733401P19Rik, CGI-97
Feature Type
protein coding gene
Genetic Map
Chromosome 5
68.97 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:130245731-130255530 bp, - strand
From VEGA annotation of GRCm38

  9800 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:6438  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 2 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SBDS
Gene Tree: Sbds

Human
homologs
SBDS, Shwachman-Bodian-Diamond syndrome
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 51119
neXtProt AC: NX_Q9Y3A5

Human Synonyms: CGI-97, SDS, SWDS

Human Chr (Location): 7q11.21; chr7:66987703-66995601 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SBDS

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Gene trapped(16) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities.
 
Mutations Annotated to Human Diseases (3)   
Interactions
Sbds interacts with 161 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process bone marrow development, bone mineralization, ...
Component cytoplasm, cytoskeleton, ...
Function microtubule binding, poly(A) RNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (21)    Tissues (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
RT-PCR 20
cDNA source data(86)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sbds    NEW 
Molecular
reagents
All nucleic(87) cDNA(86) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000027908 (Evidence)
Ensembl Gene Model ENSMUSG00000025337 (Evidence)
Entrez Gene 66711 (Evidence)
UniGene 280484
DFCI TC1575006
DoTS DT.101279430, DT.534055, DT.94269768
NIA Mouse Gene Index U026772
Consensus CDS Project CCDS19710.1
International Mouse Phenotyping Consortium Status Sbds
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027908 VEGA Gene Model | MGI Sequence Detail 9800 C57BL/6J ±  kb
transcript OTTMUST00000069123 VEGA | MGI Sequence Detail 1548 Not Applicable 
polypeptide OTTMUSP00000035058 VEGA | MGI Sequence Detail 250 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(90 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002140 Ribosome maturation protein SBDS
InterPro IPR018023 Ribosome maturation protein SBDS, conserved site
InterPro IPR018978 Ribosome maturation protein SBDS, C-terminal
InterPro IPR019783 Ribosome maturation protein SBDS, N-terminal
Protein Ontology PR:000014472 ribosome maturation protein SBDS
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:189357 Tourlakis ME, et al., Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92
All references(42)
Disease annotation references (1)
Other
accession IDs
MGI:2140971

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory