SBDS

GENERAL INFORMATION

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Gene name

SBDS

Gene description

Shwachman-Bodian-Diamond syndrome

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA028891
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 BROWSER

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ENST00000246868
 
ENST00000617799
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

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