TBX5

GENE INFORMATION

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Gene name

TBX5 (HGNC Symbol)

Synonyms

HOS

Description

T-box 5 (HGNC Symbol)

Entrez gene summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Chromosome

12

Cytoband

q24.21

Chromosome location (bp)

114353931 - 114408442

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000089225 (version 78.38)

Entrez gene

6910

UniProt

Q99593 (UniProt - Evidence at protein level)

neXtProt

NX_Q99593

Antibodypedia

TBX5 antibodies
 

PROTEIN VIEW

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TBX5-001
 
TBX5-002
 
TBX5-003
 
TBX5-005
 
 
 
 
 

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)

TBX5-001 ENSP00000309913
ENST00000310346
Q99593
Show all »
Show » Show » 518 57.7 No 0
TBX5-002 ENSP00000433292
ENST00000526441
Q99593
Show all »
Show » Show » 349 39.2 No 0
TBX5-003 ENSP00000337723
ENST00000349716
Q99593
Show all »
Show » Show » 468 52.7 No 0
TBX5-005 ENSP00000384152
ENST00000405440
Q99593
Show all »
Show » Show » 518 57.7 No 0