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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	23118
Gene name	TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Gene symbol	TAB2
Synonyms (NCBI Gene)	CHTD2MAP3K7IP2TAB-2
Chromosome	6
Chromosome location	6q25.1
Summary	The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adapto

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SNP ID	Visualize variation	Clinical significance	Consequence
rs143213478	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs267607100	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs267607101	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041646	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057517934	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518015	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518422	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518437	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064795547	CA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1479104927	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1554263268	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554263321	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562443558	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained

401

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000289	hsa-miR-155-5p	Review	20029422
MIRT000289	hsa-miR-155-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	19193853
MIRT005057	hsa-let-7b-5p	Microarray	17699775
MIRT000289	hsa-miR-155-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	20852130
MIRT007040	hsa-miR-23b-3p	Luciferase reporter assay	22660635
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay	23449975
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay	23449975
MIRT000289	hsa-miR-155-5p	Reporter assay	20680360
MIRT000289	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT025198	hsa-miR-181a-5p	Sequencing	20371350
MIRT027769	hsa-miR-98-5p	Microarray	19088304
MIRT052592	hsa-let-7a-5p	CLASH	23622248
MIRT052592	hsa-let-7a-5p	CLASH	23622248
MIRT005057	hsa-let-7b-5p	CLASH	23622248
MIRT051388	hsa-let-7f-5p	CLASH	23622248
MIRT048189	hsa-miR-196a-5p	CLASH	23622248
MIRT046408	hsa-miR-15b-5p	CLASH	23622248
MIRT052996	hsa-miR-142-3p	Luciferase reporter assayWestern blot	22493297
MIRT052996	hsa-miR-142-3p	Luciferase reporter assayWestern blot	22493297
MIRT544320	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT544319	hsa-miR-5688	PAR-CLIP	21572407
MIRT544318	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT544317	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT544316	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT492110	hsa-miR-3148	PAR-CLIP	21572407
MIRT492122	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT492121	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT492120	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT492119	hsa-miR-548m	PAR-CLIP	23592263
MIRT492118	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT492117	hsa-miR-4678	PAR-CLIP	23592263
MIRT492116	hsa-miR-936	PAR-CLIP	23592263
MIRT492115	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT492114	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT492113	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT492112	hsa-miR-5194	PAR-CLIP	23592263
MIRT492111	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT492110	hsa-miR-3148	PAR-CLIP	23592263
MIRT492108	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT492109	hsa-miR-1292-5p	PAR-CLIP	23592263
MIRT492106	hsa-miR-4471	PAR-CLIP	23592263
MIRT492107	hsa-miR-8059	PAR-CLIP	23592263
MIRT492105	hsa-miR-5681b	PAR-CLIP	23592263
MIRT492104	hsa-miR-6073	PAR-CLIP	23592263
MIRT492103	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT492102	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT492101	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT449742	hsa-miR-4311	PAR-CLIP	22100165
MIRT449743	hsa-miR-1276	PAR-CLIP	22100165
MIRT449741	hsa-miR-583	PAR-CLIP	22100165
MIRT449740	hsa-miR-8063	PAR-CLIP	22100165
MIRT449739	hsa-miR-4698	PAR-CLIP	22100165
MIRT449738	hsa-miR-4708-5p	PAR-CLIP	22100165
MIRT449737	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT449736	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT449735	hsa-miR-6086	PAR-CLIP	22100165
MIRT449734	hsa-miR-1273e	PAR-CLIP	22100165
MIRT052996	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT000289	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT052996	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT000289	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT735169	hsa-miR-27b-5p	Luciferase reporter assayWestern blottingqRT-PCRELISA	33174006
MIRT735381	hsa-miR-146a-5p	qRT-PCR	31739406
MIRT544320	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT544319	hsa-miR-5688	PAR-CLIP	21572407
MIRT544318	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT544317	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT544316	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT492110	hsa-miR-3148	PAR-CLIP	21572407
MIRT492122	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT492121	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT492120	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT492119	hsa-miR-548m	PAR-CLIP	23592263
MIRT492118	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT492117	hsa-miR-4678	PAR-CLIP	23592263
MIRT492116	hsa-miR-936	PAR-CLIP	23592263
MIRT492115	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT492114	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT492113	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT492112	hsa-miR-5194	PAR-CLIP	23592263
MIRT492111	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT492110	hsa-miR-3148	PAR-CLIP	23592263
MIRT492108	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT492109	hsa-miR-1292-5p	PAR-CLIP	23592263
MIRT492106	hsa-miR-4471	PAR-CLIP	23592263
MIRT492107	hsa-miR-8059	PAR-CLIP	23592263
MIRT492105	hsa-miR-5681b	PAR-CLIP	23592263
MIRT492104	hsa-miR-6073	PAR-CLIP	23592263
MIRT492103	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT492102	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT492101	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT449742	hsa-miR-4311	PAR-CLIP	22100165
MIRT449743	hsa-miR-1276	PAR-CLIP	22100165
MIRT449741	hsa-miR-583	PAR-CLIP	22100165
MIRT449740	hsa-miR-8063	PAR-CLIP	22100165
MIRT449739	hsa-miR-4698	PAR-CLIP	22100165
MIRT449738	hsa-miR-4708-5p	PAR-CLIP	22100165
MIRT449737	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT449736	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT449735	hsa-miR-6086	PAR-CLIP	22100165
MIRT449734	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1408143	hsa-miR-1200	CLIP-seq
MIRT1408144	hsa-miR-1273g	CLIP-seq
MIRT1408145	hsa-miR-1302	CLIP-seq
MIRT1408146	hsa-miR-1303	CLIP-seq
MIRT1408147	hsa-miR-141	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT1408152	hsa-miR-1912	CLIP-seq
MIRT1408153	hsa-miR-200a	CLIP-seq
MIRT1408154	hsa-miR-204	CLIP-seq
MIRT1408155	hsa-miR-211	CLIP-seq
MIRT1408156	hsa-miR-3065-3p	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT1408158	hsa-miR-3123	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT1408160	hsa-miR-3130-5p	CLIP-seq
MIRT1408161	hsa-miR-3184	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT1408163	hsa-miR-339-5p	CLIP-seq
MIRT1408164	hsa-miR-3545-3p	CLIP-seq
MIRT1408165	hsa-miR-3613-3p	CLIP-seq
MIRT1408166	hsa-miR-3925-5p	CLIP-seq
MIRT1408167	hsa-miR-3943	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT1408169	hsa-miR-4263	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT1408171	hsa-miR-4291	CLIP-seq
MIRT1408172	hsa-miR-4298	CLIP-seq
MIRT1408173	hsa-miR-4323	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT1408175	hsa-miR-4446-3p	CLIP-seq
MIRT1408176	hsa-miR-4482	CLIP-seq
MIRT1408177	hsa-miR-4490	CLIP-seq
MIRT1408178	hsa-miR-4503	CLIP-seq
MIRT1408179	hsa-miR-4506	CLIP-seq
MIRT1408180	hsa-miR-4635	CLIP-seq
MIRT1408181	hsa-miR-4662a-3p	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT1408183	hsa-miR-4675	CLIP-seq
MIRT1408184	hsa-miR-4719	CLIP-seq
MIRT1408185	hsa-miR-4741	CLIP-seq
MIRT1408186	hsa-miR-4755-5p	CLIP-seq
MIRT1408187	hsa-miR-4760-5p	CLIP-seq
MIRT1408188	hsa-miR-4768-5p	CLIP-seq
MIRT1408189	hsa-miR-501-5p	CLIP-seq
MIRT1408190	hsa-miR-515-5p	CLIP-seq
MIRT1408191	hsa-miR-520d-5p	CLIP-seq
MIRT1408192	hsa-miR-524-5p	CLIP-seq
MIRT1408193	hsa-miR-526b	CLIP-seq
MIRT1408194	hsa-miR-548a-3p	CLIP-seq
MIRT1408195	hsa-miR-548aa	CLIP-seq
MIRT1408196	hsa-miR-548ac	CLIP-seq
MIRT1408197	hsa-miR-548ae	CLIP-seq
MIRT1408198	hsa-miR-548aj	CLIP-seq
MIRT1408199	hsa-miR-548am	CLIP-seq
MIRT1408200	hsa-miR-548d-3p	CLIP-seq
MIRT1408201	hsa-miR-548e	CLIP-seq
MIRT1408202	hsa-miR-548f	CLIP-seq
MIRT1408203	hsa-miR-548x	CLIP-seq
MIRT1408204	hsa-miR-548z	CLIP-seq
MIRT1408205	hsa-miR-576-3p	CLIP-seq
MIRT1408206	hsa-miR-578	CLIP-seq
MIRT1408207	hsa-miR-623	CLIP-seq
MIRT1408208	hsa-miR-670	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT1408210	hsa-miR-935	CLIP-seq
MIRT1408211	hsa-miR-942	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122407	hsa-miR-1245b-3p	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122410	hsa-miR-127-5p	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2122412	hsa-miR-1297	CLIP-seq
MIRT2122413	hsa-miR-140-3p	CLIP-seq
MIRT1408147	hsa-miR-141	CLIP-seq
MIRT2122414	hsa-miR-1911	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT1408153	hsa-miR-200a	CLIP-seq
MIRT2122416	hsa-miR-26a	CLIP-seq
MIRT2122417	hsa-miR-26b	CLIP-seq
MIRT2122418	hsa-miR-27a	CLIP-seq
MIRT2122419	hsa-miR-27b	CLIP-seq
MIRT2122420	hsa-miR-297	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2122428	hsa-miR-3922-5p	CLIP-seq
MIRT2122429	hsa-miR-3977	CLIP-seq
MIRT2122430	hsa-miR-412	CLIP-seq
MIRT2122431	hsa-miR-4255	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT2122432	hsa-miR-4276	CLIP-seq
MIRT2122433	hsa-miR-4302	CLIP-seq
MIRT2122434	hsa-miR-4326	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT2122435	hsa-miR-4465	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2122437	hsa-miR-4659a-3p	CLIP-seq
MIRT2122438	hsa-miR-4659b-3p	CLIP-seq
MIRT2122439	hsa-miR-4670-3p	CLIP-seq
MIRT2122440	hsa-miR-4677-5p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122443	hsa-miR-4753-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2122445	hsa-miR-4762-3p	CLIP-seq
MIRT2122446	hsa-miR-4797-5p	CLIP-seq
MIRT2122447	hsa-miR-513a-5p	CLIP-seq
MIRT1408193	hsa-miR-526b	CLIP-seq
MIRT2122448	hsa-miR-567	CLIP-seq
MIRT1408206	hsa-miR-578	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT2122449	hsa-miR-759	CLIP-seq
MIRT1408210	hsa-miR-935	CLIP-seq
MIRT2344694	hsa-miR-101	CLIP-seq
MIRT2344695	hsa-miR-1264	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2344696	hsa-miR-1279	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2344698	hsa-miR-144	CLIP-seq
MIRT2344699	hsa-miR-183	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2344700	hsa-miR-2116	CLIP-seq
MIRT2344701	hsa-miR-219-5p	CLIP-seq
MIRT2344702	hsa-miR-2682	CLIP-seq
MIRT2122418	hsa-miR-27a	CLIP-seq
MIRT2122419	hsa-miR-27b	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT2344703	hsa-miR-3170	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2344704	hsa-miR-34a	CLIP-seq
MIRT2344705	hsa-miR-34c-5p	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2344706	hsa-miR-377	CLIP-seq
MIRT2122428	hsa-miR-3922-5p	CLIP-seq
MIRT2122430	hsa-miR-412	CLIP-seq
MIRT2344707	hsa-miR-4260	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT1408171	hsa-miR-4291	CLIP-seq
MIRT2344708	hsa-miR-4421	CLIP-seq
MIRT2344709	hsa-miR-4423-3p	CLIP-seq
MIRT2344710	hsa-miR-4427	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2344712	hsa-miR-4496	CLIP-seq
MIRT2344713	hsa-miR-449a	CLIP-seq
MIRT2344714	hsa-miR-449b	CLIP-seq
MIRT2344715	hsa-miR-449c	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2122437	hsa-miR-4659a-3p	CLIP-seq
MIRT2122438	hsa-miR-4659b-3p	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT2344717	hsa-miR-4680-3p	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122443	hsa-miR-4753-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2344720	hsa-miR-4782-3p	CLIP-seq
MIRT2344721	hsa-miR-4796-5p	CLIP-seq
MIRT2122446	hsa-miR-4797-5p	CLIP-seq
MIRT2122447	hsa-miR-513a-5p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344723	hsa-miR-522	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2344725	hsa-miR-545	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT2344727	hsa-miR-639	CLIP-seq
MIRT2344728	hsa-miR-656	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT2122449	hsa-miR-759	CLIP-seq
MIRT2344729	hsa-miR-940	CLIP-seq
MIRT2344702	hsa-miR-2682	CLIP-seq
MIRT2344704	hsa-miR-34a	CLIP-seq
MIRT2344705	hsa-miR-34c-5p	CLIP-seq
MIRT2344709	hsa-miR-4423-3p	CLIP-seq
MIRT2344713	hsa-miR-449a	CLIP-seq
MIRT2344714	hsa-miR-449b	CLIP-seq
MIRT2344715	hsa-miR-449c	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT2122440	hsa-miR-4677-5p	CLIP-seq
MIRT2344729	hsa-miR-940	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2638003	hsa-miR-138	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2638004	hsa-miR-2054	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2638005	hsa-miR-376a	CLIP-seq
MIRT2638006	hsa-miR-376b	CLIP-seq
MIRT2638007	hsa-miR-3976	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT2638008	hsa-miR-4274	CLIP-seq
MIRT2638009	hsa-miR-4446-5p	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2638010	hsa-miR-4519	CLIP-seq
MIRT2638011	hsa-miR-4524	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2638012	hsa-miR-4668-3p	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2638013	hsa-miR-4738-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2344721	hsa-miR-4796-5p	CLIP-seq
MIRT1408189	hsa-miR-501-5p	CLIP-seq
MIRT2638014	hsa-miR-514	CLIP-seq
MIRT2638015	hsa-miR-514b-3p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2638016	hsa-miR-543	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT2344728	hsa-miR-656	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2638003	hsa-miR-138	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2692589	hsa-miR-2052	CLIP-seq
MIRT2638004	hsa-miR-2054	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT1408165	hsa-miR-3613-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2692590	hsa-miR-3672	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2638005	hsa-miR-376a	CLIP-seq
MIRT2638006	hsa-miR-376b	CLIP-seq
MIRT2638007	hsa-miR-3976	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT2638008	hsa-miR-4274	CLIP-seq
MIRT2692591	hsa-miR-4422	CLIP-seq
MIRT1408175	hsa-miR-4446-3p	CLIP-seq
MIRT2638009	hsa-miR-4446-5p	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2638010	hsa-miR-4519	CLIP-seq
MIRT2638011	hsa-miR-4524	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2638012	hsa-miR-4668-3p	CLIP-seq
MIRT1408183	hsa-miR-4675	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2638013	hsa-miR-4738-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT1408185	hsa-miR-4741	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT1408188	hsa-miR-4768-5p	CLIP-seq
MIRT2638014	hsa-miR-514	CLIP-seq
MIRT2638015	hsa-miR-514b-3p	CLIP-seq
MIRT1408190	hsa-miR-515-5p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2638016	hsa-miR-543	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT1408211	hsa-miR-942	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11460167, 11518704, 14743216, 16845370, 17158449, 17449468, 19026643, 19675569, 21512573, 21903422, 21988832, 22081109, 22158122, 22904686, 25260751, 27426733, 27880917, 32296183, 32707033, 33961781, 35271311, 36179048
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10882101, 36681779
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IDA	34017102
GO:0006954	Process	Inflammatory response	IDA	36681779
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 10882101, 20038579, 34721373
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IMP	20493459
GO:0008270	Function	Zinc ion binding	IDA	22158122
GO:0008270	Function	Zinc ion binding	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	TAS	21976705
GO:0016020	Component	Membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IDA	19193853
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	33184450
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IEA
GO:0038066	Process	P38MAPK cascade	IDA	10330143, 11460167
GO:0042742	Process	Defense response to bacterium	IDA	11460167
GO:0042742	Process	Defense response to bacterium	IDA	18079694
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 11460167
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	15327770, 18079694, 22158122, 27746020
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043130	Function	Ubiquitin binding	IEA
GO:0045860	Process	Positive regulation of protein kinase activity	IDA	11460167
GO:0046872	Function	Metal ion binding	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	10882101, 36681779
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	15327770, 19935683, 22158122, 27746020
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	20038579

MIM	HGNC	e!Ensembl
605101	17075	ENSG00000055208

Q9NYJ8

Protein name

TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2)

Protein function

Adapter required to activate the JNK and NF-kappa-B signaling pathways through the specific recognition of 'Lys-63'-linked polyubiquitin chains by its RanBP2-type zinc finger (NZF) (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158

PDB

2DAE , 2WWZ , 2WX0 , 2WX1 , 9AVT , 9AVW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02845	CUE	9 → 50	CUE domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the embryo, expressed in the ventricular trabeculae, endothelial cells of the conotruncal cushions of the outflow tract and in the endothelial cells lining the developing aortic valves. {ECO:0000269|PubMed:10882101

Sequence

MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCAVLSQESTRYLYGEGDL
NFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRTLTHSISDGQLQGGQSNSE
LFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLGSKGTSSLSQQTPRFNPIMVT
LAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPYITTPGGTTRQTQQHSGWVSQFN
PMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQGHQTSHVYMPISSPTTSQPPTIHS
SGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQRNNSSKLRSSGPRTSSTSSSVNSQTL
NRNQPTVYIAASPPNTDELMSRSQPKVYISANAATGDEQVMRNQPTLFISTNSGASAASR
NMSGQVSMGPAFIHHHPPKSRAIGNNSATSPRVVVTQPNTKYTFKITVSPNKPPAVSPGV
VSPTFELTNLLNHPDHYVETENIQHLTDPTLAHVDRISETRKLSMGSDDAAYTQALLVHQ
KARMERLQRELEIQKKKLDKLKSEVNEMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNR
QLQIDIDCLTKEIDLFQARGPHFNPSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDT
EDDEGAQWNCTACTFLNHPALIRCEQCEMPRHF

Sequence length

693

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect, ostium secundum type	Likely pathogenic; Pathogenic	rs1057518422	RCV000626800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bicuspid aortic valve	Likely pathogenic; Pathogenic	rs1057518422	RCV000626800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	Likely pathogenic; Pathogenic	rs1479104927	RCV006257313	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, multiple types, 2	Likely pathogenic; Pathogenic	rs1782223593, rs2114883576, rs2114885325, rs2114887873, rs2114887942, rs2114886711, rs1562443558, rs2483386818, rs2483397661, rs267607101, rs2483397256, rs2483386092, rs2483392655, rs577148408, rs2483399715 View all (16 more)	RCV001331939 RCV001353220 RCV001783844 RCV003336436 RCV003314027 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathy	Likely pathogenic; Pathogenic	rs1479104927	RCV001526601	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine	Likely pathogenic; Pathogenic	rs1057518422	RCV000626800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyvalvular heart disease syndrome	Likely pathogenic; Pathogenic	rs1782223593	RCV002051936	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic	rs2114887942	RCV002467457	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rectal prolapse	Likely pathogenic; Pathogenic	rs1057518422	RCV000626800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stress urinary incontinence	Likely pathogenic; Pathogenic	rs1057518422	RCV000626800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TAB2-related disorder	Pathogenic; Likely pathogenic	rs1034268466, rs1782216591, rs2483348418, rs1554263321, rs1479104927	RCV004728768 RCV001563628 RCV004527993 RCV004737844 RCV004535694	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (47)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 6Q24-Q25 DELETION SYNDROME	—	Disgenet Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY STRESS INCONTINENCE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	30944299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16732325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	16251197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	27706699	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29676073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16384851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	32183715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22383897, 26036842, 27992601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	22383897, 29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22249258, 22383897, 26036842, 27992601, 30285756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26875893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31485280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28464518, 29700987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	34456334, 34741306, 36000780	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	39905300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34741306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	16251197		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHROMOSOME 6q24-q25 DELETION SYNDROME	6q24-q25 Deletion Syndrome	GENOMICS_ENGLAND_DG	20493459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	36229919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	28386937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20493459, 25940952, 26139517, 28386937, 28464518, 29700987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	Congenital heart defects	UNIPROT_DG	20493459		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	Congenital heart defects	GENOMICS_ENGLAND_DG	28135719		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	Congenital heart defects	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	Congenital heart defects	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	28386937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	34741306, 36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20493459, 28464518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34741306, 35971781, 36229919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15220215, 15729364, 16306380		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, INSULIN-DEPENDENT, 5	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	28386937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	16251197, 16527194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	28386937		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37233761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontometaphyseal dysplasia	Frontometaphyseal dysplasia	Pubtator	27426733, 29467388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontometaphyseal dysplasia	Frontometaphyseal Dysplasia	BEFREE	29467388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	16384851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32183715, 34456334, 36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31959127, 34456334, 34741306, 35971781, 36229919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28386937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34456334, 34741306, 35971781, 36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	32183715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	32183715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	39905300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	34906501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	16732325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29676073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	39768951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22383897, 26036842, 27992601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	22383897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	22904171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39905300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	34906501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	34456334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22904171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22904171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyvalvular heart disease syndrome	Polyvalvular Heart Disease Syndrome	ORPHANET_DG	28386937		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyvalvular heart disease syndrome	Polyvalvular Heart Disease Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39786309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16755651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	36000780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35978886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	26139517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	35971781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40133221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35971781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2)