DegronMD - Q13207(TBX2)

FUNCTION: Transcription factor which acts as a transcriptional repressor (PubMed:11111039, PubMed:11062467, PubMed:12000749, PubMed:22844464, PubMed:30599067). May also function as a transcriptional activator (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:11111039, PubMed:12000749, PubMed:22844464, PubMed:30599067). Required for cardiac atrioventricular canal formation (PubMed:29726930). May cooperate with NKX2.5 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). May play a role as a positive regulator of TGFB2 expression, perhaps acting in concert with GATA4 in the developing outflow tract myocardium (By similarity). Plays a role in limb pattern formation (PubMed:29726930). Acts as a transcriptional repressor of ADAM10 gene expression, perhaps in concert with histone deacetylase HDAC1 as cofactor (PubMed:30599067). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX3 (By similarity). Required, together with TBX3, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with TBX3, in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537). Acts as a negative regulator of expression of CDKN1A/p21, IL33 and CCN4; repression of CDKN1A is enhanced in response to UV-induced stress, perhaps as a result of phosphorylation by p38 MAPK (By similarity). Negatively modulates expression of CDKN2A/p14ARF and CDH1/E-cadherin (PubMed:11062467, PubMed:12000749, PubMed:22844464). Plays a role in induction of the epithelial-mesenchymal transition (EMT) (PubMed:22844464). Plays a role in melanocyte proliferation, perhaps via regulation of cyclin CCND1 (By similarity). Involved in melanogenesis, acting via negative modulation of expression of DHICA oxidase/TYRP1 and P protein/OCA2 (By similarity). Involved in regulating retinal pigment epithelium (RPE) cell proliferation, perhaps via negatively modulating transcription of the transcription factor CEBPD (PubMed:28910203). {ECO:0000250|UniProtKB:Q60707, ECO:0000269|PubMed:11062467, ECO:0000269|PubMed:11111039, ECO:0000269|PubMed:12000749, ECO:0000269|PubMed:22002537, ECO:0000269|PubMed:22844464, ECO:0000269|PubMed:28910203, ECO:0000269|PubMed:29726930, ECO:0000269|PubMed:30599067}. View more >>

GO - Biological processes (BP): aorta morphogenesis [GO:0035909]; apoptotic process [GO:0006915]; atrioventricular canal development [GO:0036302]; atrioventricular canal morphogenesis [GO:1905222]; cardiac jelly development [GO:1905072]; cardiac muscle tissue development [GO:0048738]; cell aging [GO:0007569]; cell fate specification [GO:0001708]; cellular senescence [GO:0090398]; cochlea morphogenesis [GO:0090103]; developmental growth involved in morphogenesis [GO:0060560]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic digit morphogenesis [GO:0042733]; embryonic heart tube development [GO:0035050]; endocardial cushion formation [GO:0003272]; endocardial cushion morphogenesis [GO:0003203]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; fibroblast growth factor receptor signaling pathway [GO:0008543]; heart looping [GO:0001947]; mammary placode formation [GO:0060596]; melanocyte proliferation [GO:0097325]; mesenchymal cell proliferation involved in lung development [GO:0060916]; muscle cell fate determination [GO:0007521]; negative regulation of cardiac chamber formation [GO:1901211]; negative regulation of cellular senescence [GO:2000773]; negative regulation of heart looping [GO:1901208]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neurogenesis [GO:0022008]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; pharynx development [GO:0060465]; pigment metabolic process involved in pigmentation [GO:0043474]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of cell population proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of heart contraction [GO:0008016]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003256]; response to retinoic acid [GO:0032526]; roof of mouth development [GO:0060021]; smooth muscle cell differentiation [GO:0051145]; ureteric peristalsis [GO:0072105] View more >>

GO - Molecular function (MF): View more >>

GO - Cellular component (CC): View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.Q625H	TCGA-A5-A1OF	UCEC	TCGA	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1667
p.Q625H	DO42568	UCEC	ICGC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1667
p.P627L	TCGA-A5-A2K3	UCEC	TCGA	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.2222
p.P627L	DO43899	UCEC	ICGC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.2222
p.T252A	TCGA-AY-6197	COAD	TCGA	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.7139
p.T252A	DO9956	COAD	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.7139
p.P631Q	TCGA-EE-A2A5	SKCM	TCGA	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7035
p.P631Q	DO37941	SKCM	ICGC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7035
p.P631L	TCGA-EO-A22R	UCEC	TCGA	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	DO42713	UCEC	ICGC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	SIDM00596	Endometrial Carcinoma	GDSC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	ACH-000941	Endometrial/Uterine Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	ACH-000954	Endometrial/Uterine Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	ACH-001517	Endometrial/Uterine Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.P631L	HEC-1	endometrium	COSMIC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation altering degron motif	0.7582
p.A262V	TCGA-EY-A5W2	UCEC	TCGA	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.1944
p.A262V	DO48177	UCEC	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.1944
p.D241G	TCGA-GC-A3RB	BLCA	TCGA	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.0556
p.D241G	DO530	BLCA	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.0556
p.Q267H	TCGA-S5-A6DX	BLCA	TCGA	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.0556
p.Q267H	DO51903	BLCA	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation rewiring degron network	0.0556
p.R251H	DO52482	COCA	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.8244
p.V254L	DO228948	LICA	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.5654
p.V254L	SIDM00588	Oral Cavity Carcinoma	GDSC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.5654
p.V254L	SIDM00250	Esophageal Squamous Cell Carcinoma	GDSC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.5654
p.V254L	TE-4	oesophagus	COSMIC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.5654
p.V254L	HSC-4	upper aerodigestive tract	COSMIC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.5654
p.R251C	DO35442	PACA	ICGC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.8301
p.T252S	SIDM01954	Colorectal Carcinoma	GDSC	RTYVFPE	LIG_APCC_ABBAyCdc20_2	251:257	Mutation altering degron motif	0.7116
p.A642T	SIDM00220	Ovarian Carcinoma	GDSC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1389
p.A642T	ACH-000962	Ovarian Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1389
p.A642T	ACH-001145	Ovarian Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1389
p.A642T	OC-314	ovary	COSMIC	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1389
p.P623T	ACH-001063	Ovarian Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1111
p.G640W	ACH-001857	Bile Duct Cancer	CCLE	PPSTS	DEG_SPOP_SBC_1	631:635	Mutation rewiring degron network	0.1944

Kaplan plot for TBX2 in

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*NOTE: the Kaplan plots were collected from OncoLnc

DegronMD: protein-targeted degradation, mutation and drug response to degrons

TBX2

UniProt ID: Q13207

Entrez ID: 6909

Protein name: T-box transcription factor TBX2 (T-box protein 2)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for TBX2 in