Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	9496
Gene name	T-box transcription factor 4
Gene symbol	TBX4
Synonyms (NCBI Gene)	ICPPSPAPPASSPS
Chromosome	17
Chromosome location	17q23.2
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 the human homolog of mous

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28936696	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs28938474	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894648	C>T	Pathogenic	Stop gained, coding sequence variant
rs754897911	C>-,CC	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041115	T>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1397811125	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555881112	G>A,T	Pathogenic	Splice donor variant
rs1555882009	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555882291	CCCTTTGGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555883338	TTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555883342	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs1555883466	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569036773	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1569044884	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603248167	TTCCGGGCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603248606	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603251001	T>A	Pathogenic	Coding sequence variant, stop gained
rs1603251494	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603254792	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603255224	G>C	Pathogenic	Splice acceptor variant
rs1603255267	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255327	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255336	->ATCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255339	GA>TT	Likely-pathogenic	Coding sequence variant, stop gained
rs1603256040	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603256095	CCCCCAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025176	hsa-miR-181a-5p	Microarray	17612493
MIRT607705	hsa-miR-8485	HITS-CLIP	23313552
MIRT607702	hsa-miR-603	HITS-CLIP	23313552
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT607700	hsa-miR-6128	HITS-CLIP	23313552
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23313552
MIRT550395	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT550388	hsa-miR-6083	HITS-CLIP	23313552
MIRT550387	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607704	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607703	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607699	hsa-miR-3941	HITS-CLIP	23824327
MIRT670189	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	24906430
MIRT607704	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607703	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607702	hsa-miR-603	HITS-CLIP	24906430
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	24906430
MIRT607700	hsa-miR-6128	HITS-CLIP	24906430
MIRT607699	hsa-miR-3941	HITS-CLIP	24906430
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	24906430
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT550388	hsa-miR-6083	PAR-CLIP	20371350
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT550396	hsa-miR-648	PAR-CLIP	21572407
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550394	hsa-miR-3137	PAR-CLIP	21572407
MIRT550393	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT550392	hsa-miR-6073	PAR-CLIP	21572407
MIRT550391	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT550390	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550388	hsa-miR-6083	PAR-CLIP	21572407
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550386	hsa-miR-4455	PAR-CLIP	21572407
MIRT550385	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT607705	hsa-miR-8485	HITS-CLIP	23313552
MIRT607702	hsa-miR-603	HITS-CLIP	23313552
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT607700	hsa-miR-6128	HITS-CLIP	23313552
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23313552
MIRT550395	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT550388	hsa-miR-6083	HITS-CLIP	23313552
MIRT550387	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607704	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607703	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607699	hsa-miR-3941	HITS-CLIP	23824327
MIRT670189	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT550388	hsa-miR-6083	PAR-CLIP	20371350
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT550396	hsa-miR-648	PAR-CLIP	21572407
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550394	hsa-miR-3137	PAR-CLIP	21572407
MIRT550393	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT550392	hsa-miR-6073	PAR-CLIP	21572407
MIRT550391	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT550390	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550388	hsa-miR-6083	PAR-CLIP	21572407
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550386	hsa-miR-4455	PAR-CLIP	21572407
MIRT550385	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT1415285	hsa-miR-1224-3p	CLIP-seq
MIRT1415286	hsa-miR-125a-5p	CLIP-seq
MIRT1415287	hsa-miR-125b	CLIP-seq
MIRT1415288	hsa-miR-1272	CLIP-seq
MIRT1415289	hsa-miR-146a	CLIP-seq
MIRT1415290	hsa-miR-146b-5p	CLIP-seq
MIRT1415291	hsa-miR-185	CLIP-seq
MIRT1415292	hsa-miR-329	CLIP-seq
MIRT1415293	hsa-miR-3925-5p	CLIP-seq
MIRT1415294	hsa-miR-4286	CLIP-seq
MIRT1415295	hsa-miR-4306	CLIP-seq
MIRT1415296	hsa-miR-4319	CLIP-seq
MIRT1415297	hsa-miR-4427	CLIP-seq
MIRT1415298	hsa-miR-4644	CLIP-seq
MIRT1415299	hsa-miR-4680-3p	CLIP-seq
MIRT1415300	hsa-miR-4708-5p	CLIP-seq
MIRT1415301	hsa-miR-4756-3p	CLIP-seq
MIRT1415285	hsa-miR-1224-3p	CLIP-seq
MIRT2124629	hsa-miR-3925-3p	CLIP-seq
MIRT1415292	hsa-miR-329	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
PITX1	Unknown	20598276

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	15106123
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IMP	15106123
GO:0035116	Process	Embryonic hindlimb morphogenesis	IMP	31761294
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048705	Process	Skeletal system morphogenesis	IMP	15106123
GO:1990401	Process	Embryonic lung development	IMP	31761294

MIM	HGNC	e!Ensembl
601719	11603	ENSG00000121075

P57082

Protein name

T-box transcription factor TBX4 (T-box protein 4)

Protein function

Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	69 → 251	T-box	Domain

Sequence

MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAA
EQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIV
PADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDP
FGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQAL
QHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSS
VGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMW
TSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS
QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVE
NWTDG

Sequence length

545

Interactions

View interactions

241

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of prenatal development or birth	Pathogenic	rs1603251001	RCV001814249
Autosomal recessive amelia	Pathogenic	rs2143821228, rs1603251494, rs1603251001	RCV001829353 RCV001251075 RCV000993789
Coxopodopatellar syndrome	Likely pathogenic; Pathogenic	rs1428934331, rs774711057, rs1569046598, rs2143860927, rs868469301, rs1159276152, rs28938474, rs104894648, rs28936696, rs2509555498, rs1555882291, rs1569044884, rs1569036773, rs1603251494, rs1603248606 View all (6 more)	RCV001827592 RCV002074388 RCV001829334 RCV001829359 RCV002249189 RCV002795926 RCV000008305 RCV000008306 RCV000008307 RCV003984957 RCV001829826 RCV005253110 RCV000782140 RCV001251076 RCV000984861 RCV000984862 RCV000984863 RCV000993790 RCV000995662 RCV001251174 RCV001261981
Primary pulmonary hypoplasia	Likely pathogenic; Pathogenic	rs754897911	RCV001843368
Pulmonary arterial hypertension	Likely pathogenic; Pathogenic	rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095	RCV001003777 RCV001003778 RCV001003779 RCV001003780 RCV001003781 RCV001003782 RCV001003783 RCV001003784
Pulmonary arterial hypertension associated with congenital heart disease	Likely pathogenic; Pathogenic	rs1555883342, rs1555882009, rs1555882291, rs1555883338, rs754897911	RCV000664178 RCV000664176 RCV000664180 RCV000664182 RCV000664179
Pulmonary hypertension, primary, 1	Likely pathogenic; Pathogenic	rs1428934331, rs774711057, rs2143857127, rs1209188502, rs2143792602, rs2143821238, rs747369610, rs766300906, rs2143792571, rs2143792897, rs2143795994, rs2143856709, rs2143861174, rs150233337, rs1183527120 View all (10 more)	RCV001827592 RCV001829318 RCV001829327 RCV001829328 RCV001829330 RCV001829331 RCV001829339 RCV001829349 RCV001829350 RCV001829354 RCV001829355 RCV001829361 RCV001829364 RCV001829366 RCV001829369 RCV001829370 RCV001829377 RCV001829824 RCV001829825 RCV001827122 RCV001827123 RCV001827124 RCV001827161 RCV001827162 RCV001827163 RCV001827165
TBX4-related disorder	Likely pathogenic; Pathogenic	rs2509566796, rs1555883342	RCV003335974 RCV004547833

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant tumor of urinary bladder	Benign; Likely benign	rs185650741, rs148424252	RCV005894654 RCV005894653
Ovarian serous cystadenocarcinoma	Benign	rs185650741	RCV005894655

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32688456
Al Awadi syndrome	Associate	31761294
Alveolar capillary dysplasia	Associate	37821225, 40008593
Apraxias	Associate	29070031
Ataxia Telangiectasia	Associate	35852389
Blindness	Associate	31761294
Bowen syndrome	Associate	31965066
Breast Neoplasms	Associate	19454617
Bronchiolitis Obliterans	Associate	35075769
Carcinoma Acinar Cell	Associate	30828993
Carcinoma Adenoid Cystic	Associate	21692051
Carcinoma Non Small Cell Lung	Inhibit	30866410
Carcinoma Non Small Cell Lung	Associate	31311130
Carcinoma Pancreatic Ductal	Associate	21954337
Chromosome Deletion	Associate	37821225
Clubfoot	Associate	20598276, 22678995, 32518174, 36360195
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Associate	36085161
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Stimulate	40008593
Developmental Dysplasia of the Hip	Associate	20887794, 36454308
Ectromelia	Associate	31761294, 31965066, 35075769
Familial Primary Pulmonary Hypertension	Associate	27453251, 27587546
Growth Disorders	Associate	31309540
Heart Diseases	Associate	31151956
Hip Dislocation	Associate	20887794
Hydrops Fetalis	Associate	31965066
Hypertension Pulmonary	Associate	30290780, 31151956, 31309540, 32079640
Hypoplastic Left Heart Syndrome	Associate	31965066
Iridogoniodysgenesis and skeletal anomalies	Associate	31151956
Ischiopatellar dysplasia	Associate	15106123, 23592887, 31761294, 32079640, 35075769, 35216193
Learning Disabilities	Associate	31151956
Lung agenesis	Associate	30639323, 35075769, 40008593
Lung Diseases	Associate	30413314, 30639323, 31151956, 31309540, 31965066, 35075769, 35852389, 37821225
Lung Diseases Interstitial	Associate	35075769, 35852389
Mental Disorders	Associate	29070031
Microcephaly	Associate	31309540
Multiple Sulfatase Deficiency Disease	Associate	36142358
Muscle Spasticity	Associate	31309540
Neoplasm Metastasis	Associate	25048347, 29542868
Neoplasms	Associate	21954337, 28971975, 29542868
Oculodentodigital Dysplasia	Associate	33967277
Optic Nerve Aplasia Bilateral	Associate	31965066
Pelvic Neoplasms	Associate	31761294, 31965066
Persistent Fetal Circulation Syndrome	Associate	31382961
Phenylketonurias	Associate	27587546
Pneumothorax	Associate	35075769
Pulmonary Arterial Hypertension	Associate	23592887, 27453251, 29631995, 30578383, 31727138, 32079640, 32348326, 34199176, 35075769, 35346192, 35852389, 36142358
Pulmonary Arterial Hypertension Hereditary Hemorrhagic Telangiectasia Related	Associate	27453251
Pulmonary Veno Occlusive Disease	Associate	33066286
Respiratory Insufficiency	Associate	30413314, 30828993
Sacral defect and anterior sacral meningocele	Associate	31965066
Sacrococcygeal dysgenesis association	Associate	31965066
Syndrome	Associate	35852389
Urethritis	Associate	26663319
Vascular Diseases	Associate	34199176

TBX4 (T-box transcription factor 4)