SBDS

GENE INFORMATION

? »

Gene name

SBDS (HGNC Symbol)

Synonyms

CGI-97, FLJ10917, SDS, SWDS

Description

Shwachman-Bodian-Diamond syndrome (HGNC Symbol)

Entrez gene summary

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

q11.21

Chromosome location (bp)

66987677 - 66995601

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000126524 (version 78.38)

Entrez gene

51119

UniProt

Q9Y3A5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y3A5

Antibodypedia

SBDS antibodies
 

PROTEIN VIEW

? »
 
 
 
SBDS-001
 
SBDS-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SBDS-001 ENSP00000246868
ENST00000246868
Q9Y3A5
Show all »
Show » Show » 250 28.8 No 0
SBDS-201 ENSP00000483040
ENST00000617799
Show » Show » 250 28.9 No 0