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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6913
Gene name	T-box transcription factor 15
Gene symbol	TBX15
Synonyms (NCBI Gene)	TBX14
Chromosome	1
Chromosome location	1p12
Summary	This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200564235	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1571155763	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

310

Show/Hide all (310)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017037	hsa-miR-335-5p	Microarray	18185580
MIRT496556	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT496555	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT496554	hsa-miR-4301	PAR-CLIP	22291592
MIRT496553	hsa-miR-4286	PAR-CLIP	22291592
MIRT496552	hsa-miR-4320	PAR-CLIP	22291592
MIRT496551	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT496550	hsa-miR-2355-5p	PAR-CLIP	22291592
MIRT496549	hsa-miR-5004-3p	PAR-CLIP	22291592
MIRT732636	hsa-miR-145-5p	Luciferase reporter assayRNA-seqqRT-PCRWestern blotting	33453148
MIRT496556	hsa-miR-5582-5p	PAR-CLIP	22291592
MIRT496555	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT496554	hsa-miR-4301	PAR-CLIP	22291592
MIRT496553	hsa-miR-4286	PAR-CLIP	22291592
MIRT496552	hsa-miR-4320	PAR-CLIP	22291592
MIRT496551	hsa-miR-4423-3p	PAR-CLIP	22291592
MIRT496550	hsa-miR-2355-5p	PAR-CLIP	22291592
MIRT496549	hsa-miR-5004-3p	PAR-CLIP	22291592
MIRT740039	hsa-miR-1178	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT1415065	hsa-miR-128	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT1415067	hsa-miR-27a	CLIP-seq
MIRT1415068	hsa-miR-27b	CLIP-seq
MIRT1415069	hsa-miR-3182	CLIP-seq
MIRT1415070	hsa-miR-3183	CLIP-seq
MIRT740040	hsa-miR-342-3p	CLIP-seq
MIRT1415071	hsa-miR-3545-5p	CLIP-seq
MIRT740042	hsa-miR-4282	CLIP-seq
MIRT740041	hsa-miR-4317	CLIP-seq
MIRT1415072	hsa-miR-4723-3p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT1415074	hsa-miR-516b	CLIP-seq
MIRT1554498	hsa-miR-1270	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554500	hsa-miR-3927	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554502	hsa-miR-4436b-3p	CLIP-seq
MIRT1554503	hsa-miR-4521	CLIP-seq
MIRT1554504	hsa-miR-4683	CLIP-seq
MIRT1554505	hsa-miR-4694-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT1554507	hsa-miR-4736	CLIP-seq
MIRT1554508	hsa-miR-620	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2124537	hsa-miR-4795-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2124537	hsa-miR-4795-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639417	hsa-miR-1180	CLIP-seq
MIRT2639418	hsa-miR-1182	CLIP-seq
MIRT2639419	hsa-miR-1228	CLIP-seq
MIRT2639420	hsa-miR-1231	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT2639421	hsa-miR-1237	CLIP-seq
MIRT2639422	hsa-miR-1248	CLIP-seq
MIRT2639423	hsa-miR-125a-3p	CLIP-seq
MIRT2639424	hsa-miR-1285	CLIP-seq
MIRT2639425	hsa-miR-1298	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT2639426	hsa-miR-145	CLIP-seq
MIRT2639427	hsa-miR-1470	CLIP-seq
MIRT2639428	hsa-miR-1976	CLIP-seq
MIRT2639429	hsa-miR-2117	CLIP-seq
MIRT2639430	hsa-miR-219-1-3p	CLIP-seq
MIRT2639431	hsa-miR-219-2-3p	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT2639432	hsa-miR-2861	CLIP-seq
MIRT2639433	hsa-miR-2964a-3p	CLIP-seq
MIRT2639434	hsa-miR-2964a-5p	CLIP-seq
MIRT2639435	hsa-miR-297	CLIP-seq
MIRT2639436	hsa-miR-298	CLIP-seq
MIRT2639437	hsa-miR-300	CLIP-seq
MIRT2639438	hsa-miR-3064-3p	CLIP-seq
MIRT2639439	hsa-miR-3124-3p	CLIP-seq
MIRT2639440	hsa-miR-3130-5p	CLIP-seq
MIRT2639441	hsa-miR-3136-3p	CLIP-seq
MIRT2639442	hsa-miR-3143	CLIP-seq
MIRT2639443	hsa-miR-3152-5p	CLIP-seq
MIRT2639444	hsa-miR-3162-3p	CLIP-seq
MIRT2639445	hsa-miR-3163	CLIP-seq
MIRT2639446	hsa-miR-3187-5p	CLIP-seq
MIRT2639447	hsa-miR-3192	CLIP-seq
MIRT2639448	hsa-miR-340	CLIP-seq
MIRT2639449	hsa-miR-3612	CLIP-seq
MIRT2639450	hsa-miR-3613-5p	CLIP-seq
MIRT2639451	hsa-miR-3667-3p	CLIP-seq
MIRT2639452	hsa-miR-3689a-3p	CLIP-seq
MIRT2639453	hsa-miR-3689c	CLIP-seq
MIRT2639454	hsa-miR-3691-3p	CLIP-seq
MIRT2639455	hsa-miR-3692	CLIP-seq
MIRT2639456	hsa-miR-3714	CLIP-seq
MIRT2639457	hsa-miR-377	CLIP-seq
MIRT2639458	hsa-miR-378g	CLIP-seq
MIRT2639459	hsa-miR-381	CLIP-seq
MIRT2639460	hsa-miR-3924	CLIP-seq
MIRT2639461	hsa-miR-3925-3p	CLIP-seq
MIRT2639462	hsa-miR-3934	CLIP-seq
MIRT2639463	hsa-miR-3974	CLIP-seq
MIRT2639464	hsa-miR-412	CLIP-seq
MIRT2639465	hsa-miR-4252	CLIP-seq
MIRT2639466	hsa-miR-4254	CLIP-seq
MIRT2639467	hsa-miR-4273	CLIP-seq
MIRT2639468	hsa-miR-4279	CLIP-seq
MIRT2639469	hsa-miR-4287	CLIP-seq
MIRT2639470	hsa-miR-4302	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT2639471	hsa-miR-4314	CLIP-seq
MIRT2639472	hsa-miR-4423-5p	CLIP-seq
MIRT2639473	hsa-miR-4436b-5p	CLIP-seq
MIRT2639474	hsa-miR-4443	CLIP-seq
MIRT2639475	hsa-miR-4469	CLIP-seq
MIRT2639476	hsa-miR-4480	CLIP-seq
MIRT2639477	hsa-miR-4482	CLIP-seq
MIRT2639478	hsa-miR-4486	CLIP-seq
MIRT2639479	hsa-miR-4639-3p	CLIP-seq
MIRT2639480	hsa-miR-4646-5p	CLIP-seq
MIRT2639481	hsa-miR-4650-5p	CLIP-seq
MIRT2639482	hsa-miR-4652-3p	CLIP-seq
MIRT2639483	hsa-miR-4664-3p	CLIP-seq
MIRT2639484	hsa-miR-4667-3p	CLIP-seq
MIRT2639485	hsa-miR-4672	CLIP-seq
MIRT2639486	hsa-miR-4682	CLIP-seq
MIRT2639487	hsa-miR-4684-5p	CLIP-seq
MIRT2639488	hsa-miR-4685-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2639489	hsa-miR-4701-5p	CLIP-seq
MIRT2639490	hsa-miR-4704-5p	CLIP-seq
MIRT2639491	hsa-miR-4709-3p	CLIP-seq
MIRT2639492	hsa-miR-4713-5p	CLIP-seq
MIRT2639493	hsa-miR-4717-5p	CLIP-seq
MIRT2639494	hsa-miR-4728-5p	CLIP-seq
MIRT2639495	hsa-miR-4747-5p	CLIP-seq
MIRT2639496	hsa-miR-4753-3p	CLIP-seq
MIRT2639497	hsa-miR-4753-5p	CLIP-seq
MIRT2639498	hsa-miR-4754	CLIP-seq
MIRT2639499	hsa-miR-4755-3p	CLIP-seq
MIRT2639500	hsa-miR-4757-3p	CLIP-seq
MIRT2639501	hsa-miR-4757-5p	CLIP-seq
MIRT2639502	hsa-miR-4768-5p	CLIP-seq
MIRT2639503	hsa-miR-4778-3p	CLIP-seq
MIRT2639504	hsa-miR-4781-5p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT2639505	hsa-miR-4786-3p	CLIP-seq
MIRT2639506	hsa-miR-4797-5p	CLIP-seq
MIRT2639507	hsa-miR-4802-3p	CLIP-seq
MIRT2639508	hsa-miR-511	CLIP-seq
MIRT2639509	hsa-miR-518d-5p	CLIP-seq
MIRT2639510	hsa-miR-519b-5p	CLIP-seq
MIRT2639511	hsa-miR-519c-5p	CLIP-seq
MIRT2639512	hsa-miR-520c-5p	CLIP-seq
MIRT2639513	hsa-miR-526a	CLIP-seq
MIRT2639514	hsa-miR-543	CLIP-seq
MIRT2639515	hsa-miR-548a-3p	CLIP-seq
MIRT2639516	hsa-miR-548e	CLIP-seq
MIRT2639517	hsa-miR-548f	CLIP-seq
MIRT2639518	hsa-miR-567	CLIP-seq
MIRT2639519	hsa-miR-571	CLIP-seq
MIRT2639520	hsa-miR-588	CLIP-seq
MIRT2639521	hsa-miR-603	CLIP-seq
MIRT2639522	hsa-miR-612	CLIP-seq
MIRT2639523	hsa-miR-619	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639524	hsa-miR-642a	CLIP-seq
MIRT2639525	hsa-miR-648	CLIP-seq
MIRT2639526	hsa-miR-650	CLIP-seq
MIRT2639527	hsa-miR-660	CLIP-seq
MIRT2639528	hsa-miR-665	CLIP-seq
MIRT2639529	hsa-miR-671-5p	CLIP-seq
MIRT2639530	hsa-miR-759	CLIP-seq
MIRT2639531	hsa-miR-764	CLIP-seq
MIRT2639532	hsa-miR-766	CLIP-seq
MIRT2639533	hsa-miR-767-3p	CLIP-seq
MIRT2639534	hsa-miR-875-3p	CLIP-seq
MIRT2639535	hsa-miR-885-3p	CLIP-seq
MIRT2639536	hsa-miR-942	CLIP-seq
MIRT2639417	hsa-miR-1180	CLIP-seq
MIRT2639418	hsa-miR-1182	CLIP-seq
MIRT2639419	hsa-miR-1228	CLIP-seq
MIRT2639420	hsa-miR-1231	CLIP-seq
MIRT1415064	hsa-miR-1236	CLIP-seq
MIRT2639421	hsa-miR-1237	CLIP-seq
MIRT2639422	hsa-miR-1248	CLIP-seq
MIRT2639423	hsa-miR-125a-3p	CLIP-seq
MIRT2639424	hsa-miR-1285	CLIP-seq
MIRT1415066	hsa-miR-1299	CLIP-seq
MIRT2639426	hsa-miR-145	CLIP-seq
MIRT2639427	hsa-miR-1470	CLIP-seq
MIRT2692742	hsa-miR-196a	CLIP-seq
MIRT2692743	hsa-miR-196b	CLIP-seq
MIRT2639428	hsa-miR-1976	CLIP-seq
MIRT2639429	hsa-miR-2117	CLIP-seq
MIRT2639430	hsa-miR-219-1-3p	CLIP-seq
MIRT2639431	hsa-miR-219-2-3p	CLIP-seq
MIRT1554499	hsa-miR-223	CLIP-seq
MIRT2639432	hsa-miR-2861	CLIP-seq
MIRT2639433	hsa-miR-2964a-3p	CLIP-seq
MIRT2639434	hsa-miR-2964a-5p	CLIP-seq
MIRT2639435	hsa-miR-297	CLIP-seq
MIRT2639436	hsa-miR-298	CLIP-seq
MIRT2639437	hsa-miR-300	CLIP-seq
MIRT2639438	hsa-miR-3064-3p	CLIP-seq
MIRT2639439	hsa-miR-3124-3p	CLIP-seq
MIRT2639440	hsa-miR-3130-5p	CLIP-seq
MIRT2639441	hsa-miR-3136-3p	CLIP-seq
MIRT2639442	hsa-miR-3143	CLIP-seq
MIRT2639443	hsa-miR-3152-5p	CLIP-seq
MIRT2639445	hsa-miR-3163	CLIP-seq
MIRT2639446	hsa-miR-3187-5p	CLIP-seq
MIRT2639447	hsa-miR-3192	CLIP-seq
MIRT2639448	hsa-miR-340	CLIP-seq
MIRT2639449	hsa-miR-3612	CLIP-seq
MIRT2639450	hsa-miR-3613-5p	CLIP-seq
MIRT2639451	hsa-miR-3667-3p	CLIP-seq
MIRT2639452	hsa-miR-3689a-3p	CLIP-seq
MIRT2639453	hsa-miR-3689c	CLIP-seq
MIRT2639454	hsa-miR-3691-3p	CLIP-seq
MIRT2639455	hsa-miR-3692	CLIP-seq
MIRT2639456	hsa-miR-3714	CLIP-seq
MIRT2639457	hsa-miR-377	CLIP-seq
MIRT2639458	hsa-miR-378g	CLIP-seq
MIRT2639459	hsa-miR-381	CLIP-seq
MIRT2639460	hsa-miR-3924	CLIP-seq
MIRT2639461	hsa-miR-3925-3p	CLIP-seq
MIRT1554500	hsa-miR-3927	CLIP-seq
MIRT2639462	hsa-miR-3934	CLIP-seq
MIRT2639463	hsa-miR-3974	CLIP-seq
MIRT2639464	hsa-miR-412	CLIP-seq
MIRT2639465	hsa-miR-4252	CLIP-seq
MIRT2639466	hsa-miR-4254	CLIP-seq
MIRT2639467	hsa-miR-4273	CLIP-seq
MIRT2639468	hsa-miR-4279	CLIP-seq
MIRT2639469	hsa-miR-4287	CLIP-seq
MIRT2639470	hsa-miR-4302	CLIP-seq
MIRT1554501	hsa-miR-431	CLIP-seq
MIRT2639471	hsa-miR-4314	CLIP-seq
MIRT2639472	hsa-miR-4423-5p	CLIP-seq
MIRT2639473	hsa-miR-4436b-5p	CLIP-seq
MIRT2639474	hsa-miR-4443	CLIP-seq
MIRT2639475	hsa-miR-4469	CLIP-seq
MIRT2639476	hsa-miR-4480	CLIP-seq
MIRT2639477	hsa-miR-4482	CLIP-seq
MIRT2639478	hsa-miR-4486	CLIP-seq
MIRT2639479	hsa-miR-4639-3p	CLIP-seq
MIRT2639480	hsa-miR-4646-5p	CLIP-seq
MIRT2639481	hsa-miR-4650-5p	CLIP-seq
MIRT2639482	hsa-miR-4652-3p	CLIP-seq
MIRT2639483	hsa-miR-4664-3p	CLIP-seq
MIRT2639484	hsa-miR-4667-3p	CLIP-seq
MIRT2639485	hsa-miR-4672	CLIP-seq
MIRT2639486	hsa-miR-4682	CLIP-seq
MIRT2639487	hsa-miR-4684-5p	CLIP-seq
MIRT2639488	hsa-miR-4685-3p	CLIP-seq
MIRT1554506	hsa-miR-4697-3p	CLIP-seq
MIRT2639489	hsa-miR-4701-5p	CLIP-seq
MIRT2639490	hsa-miR-4704-5p	CLIP-seq
MIRT2639491	hsa-miR-4709-3p	CLIP-seq
MIRT2639492	hsa-miR-4713-5p	CLIP-seq
MIRT2639493	hsa-miR-4717-5p	CLIP-seq
MIRT2639494	hsa-miR-4728-5p	CLIP-seq
MIRT2639495	hsa-miR-4747-5p	CLIP-seq
MIRT2639496	hsa-miR-4753-3p	CLIP-seq
MIRT2639497	hsa-miR-4753-5p	CLIP-seq
MIRT2639498	hsa-miR-4754	CLIP-seq
MIRT2639499	hsa-miR-4755-3p	CLIP-seq
MIRT2639500	hsa-miR-4757-3p	CLIP-seq
MIRT2639501	hsa-miR-4757-5p	CLIP-seq
MIRT2639502	hsa-miR-4768-5p	CLIP-seq
MIRT2639503	hsa-miR-4778-3p	CLIP-seq
MIRT2639504	hsa-miR-4781-5p	CLIP-seq
MIRT1415073	hsa-miR-4782-5p	CLIP-seq
MIRT2639505	hsa-miR-4786-3p	CLIP-seq
MIRT2639506	hsa-miR-4797-5p	CLIP-seq
MIRT2639508	hsa-miR-511	CLIP-seq
MIRT2639509	hsa-miR-518d-5p	CLIP-seq
MIRT2639510	hsa-miR-519b-5p	CLIP-seq
MIRT2639511	hsa-miR-519c-5p	CLIP-seq
MIRT2639512	hsa-miR-520c-5p	CLIP-seq
MIRT2639513	hsa-miR-526a	CLIP-seq
MIRT2639514	hsa-miR-543	CLIP-seq
MIRT2639515	hsa-miR-548a-3p	CLIP-seq
MIRT2639516	hsa-miR-548e	CLIP-seq
MIRT2639517	hsa-miR-548f	CLIP-seq
MIRT2639518	hsa-miR-567	CLIP-seq
MIRT2639519	hsa-miR-571	CLIP-seq
MIRT2639520	hsa-miR-588	CLIP-seq
MIRT2639521	hsa-miR-603	CLIP-seq
MIRT2639522	hsa-miR-612	CLIP-seq
MIRT2639523	hsa-miR-619	CLIP-seq
MIRT1554509	hsa-miR-622	CLIP-seq
MIRT2639524	hsa-miR-642a	CLIP-seq
MIRT2639525	hsa-miR-648	CLIP-seq
MIRT2639526	hsa-miR-650	CLIP-seq
MIRT2639527	hsa-miR-660	CLIP-seq
MIRT2639528	hsa-miR-665	CLIP-seq
MIRT2639529	hsa-miR-671-5p	CLIP-seq
MIRT2639530	hsa-miR-759	CLIP-seq
MIRT2639531	hsa-miR-764	CLIP-seq
MIRT2639532	hsa-miR-766	CLIP-seq
MIRT2639533	hsa-miR-767-3p	CLIP-seq
MIRT2639534	hsa-miR-875-3p	CLIP-seq
MIRT2639535	hsa-miR-885-3p	CLIP-seq
MIRT2639536	hsa-miR-942	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
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:0042803	Function	Protein homodimerization activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0090571	Component	RNA polymerase II transcription repressor complex	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
604127	11594	ENSG00000092607

Q96SF7

Protein name

T-box transcription factor TBX15 (T-box protein 15) (T-box transcription factor TBX14) (T-box protein 14)

Protein function

Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	115 → 304	T-box	Domain

Sequence

MSERRRSAVALSSRAHAFSVEALIGSNKKRKLRDWEEKGLDLSMEALSPAGPLGDTEDAA
AHGLEPHPDSEQSTGSDSEVLTERTSCSFSTHTDLASGAAGPVPAAMSSMEEIQVELQCA
DLWKRFHDIGTEMIITKAGRRMFPAMRVKITGLDPHQQYYIAMDIVPVDNKRYRYVYHSS
KWMVAGNADSPVPPRVYIHPDSLASGDTWMRQVVSFDKLKLTNNELDDQGHIILHSMHKY
QPRVHVIRKDFSSDLSPTKPVPVGDGVKTFNFPETVFTTVTAYQNQQITRLKIDRNPFAK
GFRDSGRNRTGLEAIMETYAFWRPPVRTLTFEDFTTMQKQQGGSTGTSPTTSSTGTPSPS
ASSHLLSPSCSPPTFHLAPNTFNVGCRESQLCNLNLSDYPPCARSNMAALQSYPGLSDSG
YNRLQSGTTSATQPSETFMPQRTPSLISGIPTPPSLPGNSKMEAYGGQLGSFPTSQFQYV
MQAGNAASSSSSPHMFGGSHMQQSSYNAFSLHNPYNLYGYNFPTSPRLAASPEKLSASQS
TLLCSSPSNGAFGERQYLPSGMEHSMHMISPSPNNQQATNTCDGRQYGAVPGSSSQMSVH
MV

Sequence length

602

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pelviscapular dysplasia	Pathogenic	rs2101422204, rs2101422164	RCV000006178 RCV000006179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COUSIN SYNDROME	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBX15-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (67)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous genitalia, female	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28036274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27327083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31858538, 33453148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31775891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38378070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31306149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31527170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37328486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19068278	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydranencephaly	Hydranencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29796116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31775891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26216026, 27327083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26216026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27327083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28693181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24632736, 31352005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30262812, 31975641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	34340684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31975641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31775891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31775891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31306149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelviscapular dysplasia	Pelviscapular Dysplasia	BEFREE	19068278, 24039145		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelviscapular dysplasia	Pelviscapular Dysplasia	ORPHANET_DG	19068278, 24039145		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelviscapular dysplasia	Pelviscapular Dysplasia	GENOMICS_ENGLAND_DG	19068278, 24039145		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelviscapular dysplasia	Pelviscapular Dysplasia	CTD_human_DG	19068278		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelviscapular dysplasia	Pelviscapular dysplasia	Pubtator	19068278	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pelviscapular dysplasia	Pelviscapular Dysplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	33622874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26216026, 27327083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27327083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26216026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26216026		★★★★★ ★☆☆☆☆ Found in Text Mining only

TBX15 (T-box transcription factor 15)