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Tbx4 (human)

Overview Tbx4 Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX4 are the cause of small patella syndrome (SPS); also known as ischiopatellar dysplasia or Scott-Taor syndrome. SPS is an autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. Note: This description may include information from UniProtKB. Protein type: DNA binding protein Cellular Component: nucleus Molecular Function: DNA binding; transcription factor activity Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent; skeletal morphogenesis; multicellular organismal development; morphogenesis of an epithelium; angiogenesis; limb morphogenesis; lung development; embryonic limb morphogenesis Reference #:  P57082 (UniProtKB) Alt. Names/Synonyms: SPS; T-box 4; T-box protein 4; T-box transcription factor TBX4; TBX4 Gene Symbols: TBX4 Molecular weight: 60,204 Da Basal Isoelectric point: 7.34  Predict pI for various phosphorylation states

Select Structure to View Below Tbx4

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  DISEASE 147891 601719  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S99-p	AGRRMFPsYKVKVtG
0	1		T105-p	PsYKVKVtGMNPKTK
0	1		Y127	VPADDHRYKFCDNKW
0	1		S360-p	SYLEAPSsVGEDHYF
0	1		S507	GCERKPPSPHLNAAN

	mouse
S104	AGRRMFPSYKVKVTG
T110	PSYKVKVTGMNPKTK
Y132	VPADDHRYKFCDNKW
S367	SYLETPSSVGDDHYF
S514-p	MCERKPPsPHLNTAN

	rat
S107	AGRRMFPSYKVKVTG
T113	PSYKVKVTGMNPKTK
Y135-p	VPADDHRyKFCDNKW
S370	SYLETPSSVGDDHYF
S516	VCERKPPSPHLNTAN

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