TBX4 (T-box transcription factor 4)

Gene

• Entrez ID: 9496
• Gene name: T-box transcription factor 4
• Gene symbol: TBX4
• Synonyms: ICPPS, PAPPAS, SPS
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
PITX1	Unknown	20598276

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001525	Process	Angiogenesis	IBA	21873635
GO:0001708	Process	Cell fate specification	IBA	21873635
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003677	Function	DNA binding	NAS	15106123
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10945475
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	10945475
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007275	Process	Multicellular organism development	NAS	10945475
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IBA	21873635
GO:0035108	Process	Limb morphogenesis	IMP	15106123
GO:0035116	Process	Embryonic hindlimb morphogenesis	IMP	31761294
GO:0048705	Process	Skeletal system morphogenesis	IMP	15106123
GO:1990401	Process	Embryonic lung development	IMP	31761294

Other IDs

• MIM: 601719
• HGNC: 11603
• e!Ensembl: ENSG00000121075

Protein

• UniProt ID: 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	26634245
Clubfoot	Familial clubfoot due to 17q23.1q23.2 microduplication	rs121909109, rs730882191
Coxopodopatellar syndrome	Patella aplasia, coxa vara, tarsal synostosis, Coxopodopatellar syndrome	rs28938474, rs104894648, rs28936696, rs1555882291, rs1569044884, rs1569036773, rs1603251494, rs1603248606, rs1603256040, rs1603255224, rs1603251001, rs1555881112, rs754897911	15106123
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Pulmonary arterial hypertension	Familial pulmonary arterial hypertension, Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954	23592887, 23502781, 27694411
Pulmonary arterial hypertension associated with congenital heart disease	Pulmonary arterial hypertension associated with congenital heart disease	rs1085307206, rs1085307244, rs767070218, rs1555883342, rs1553508187, rs146583835, rs1555882009, rs1555882291, rs1555883338, rs754897911	30029678
Pulmonary hypertension	Idiopathic pulmonary hypertension, Familial primary pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	27694411, 27694411, 23592887, 23502781
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
17q23.1-q23.2 deletion syndrome	CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME, 17q23.1q23.2 microdeletion syndrome		21271665
17q23.1-q23.2 duplication syndrome	CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME		20598276
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital clubfoot	Congenital clubfoot
Congenital contracture	Congenital contracture	rs146546544, rs149395405, rs1567961103
Congenital epicanthus	Congenital Epicanthus
Short femur	Congenital hypoplasia of femur
Coxa magna	Coxa Magna
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension
High palate	Byzanthine arch palate
Micrognathism	Micrognathism
Microstomia	Microstomia
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Small patella syndrome	SMALL PATELLA SYNDROME		15106123, 27694411
Stiff-person syndrome	Stiff-Person Syndrome		27694411
Strabismus	Strabismus