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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26608
Gene name	Transducin beta like 2
Gene symbol	TBL2
Synonyms (NCBI Gene)	WBSCR13WS-betaTRP
Chromosome	7
Chromosome location	7q11.23
Summary	This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams

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miRTarBase ID	miRNA	Experiments	Reference
MIRT714483	hsa-miR-4695-5p	HITS-CLIP	19536157
MIRT714481	hsa-miR-1470	HITS-CLIP	19536157
MIRT714482	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT714479	hsa-miR-5193	HITS-CLIP	19536157
MIRT714480	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT675327	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT675326	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT675325	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT675324	hsa-miR-5690	HITS-CLIP	23824327
MIRT675323	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT675322	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT675321	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT675320	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT675319	hsa-miR-3612	HITS-CLIP	23824327
MIRT675318	hsa-miR-650	HITS-CLIP	23824327
MIRT675317	hsa-miR-7977	HITS-CLIP	23824327
MIRT675316	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT675315	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT675314	hsa-miR-4443	HITS-CLIP	23824327
MIRT675313	hsa-miR-665	HITS-CLIP	23824327
MIRT652815	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT652814	hsa-miR-3183	HITS-CLIP	23824327
MIRT652813	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT652812	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT652811	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT652810	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT652809	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT652807	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652806	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652805	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652804	hsa-miR-23c	HITS-CLIP	23824327
MIRT652803	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT652802	hsa-miR-4279	HITS-CLIP	23824327
MIRT664240	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT652801	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT652800	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT652799	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT652798	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT652797	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT652815	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT652814	hsa-miR-3183	HITS-CLIP	23824327
MIRT652813	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT652812	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT652811	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT652810	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT652809	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT652808	hsa-miR-3926	HITS-CLIP	23824327
MIRT652807	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652806	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652805	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652804	hsa-miR-23c	HITS-CLIP	23824327
MIRT652803	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT652802	hsa-miR-4279	HITS-CLIP	23824327
MIRT652801	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT652800	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT652799	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT652798	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT652797	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT714483	hsa-miR-4695-5p	HITS-CLIP	19536157
MIRT714481	hsa-miR-1470	HITS-CLIP	19536157
MIRT714482	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT714479	hsa-miR-5193	HITS-CLIP	19536157
MIRT714480	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT675327	hsa-miR-4714-5p	HITS-CLIP	23824327
MIRT675326	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT675325	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT675324	hsa-miR-5690	HITS-CLIP	23824327
MIRT675323	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT675322	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT675321	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT675320	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT675319	hsa-miR-3612	HITS-CLIP	23824327
MIRT675318	hsa-miR-650	HITS-CLIP	23824327
MIRT675317	hsa-miR-7977	HITS-CLIP	23824327
MIRT675316	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT675315	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT675314	hsa-miR-4443	HITS-CLIP	23824327
MIRT675313	hsa-miR-665	HITS-CLIP	23824327
MIRT652815	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT652814	hsa-miR-3183	HITS-CLIP	23824327
MIRT652813	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT652812	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT652811	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT652810	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT652809	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT652807	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652806	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652805	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652804	hsa-miR-23c	HITS-CLIP	23824327
MIRT652803	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT652802	hsa-miR-4279	HITS-CLIP	23824327
MIRT664240	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT652801	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT652800	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT652799	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT652798	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT652797	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT652815	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT652814	hsa-miR-3183	HITS-CLIP	23824327
MIRT652813	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT652812	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT652811	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT652810	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT652809	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT652808	hsa-miR-3926	HITS-CLIP	23824327
MIRT652807	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652806	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652805	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652804	hsa-miR-23c	HITS-CLIP	23824327
MIRT652803	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT652802	hsa-miR-4279	HITS-CLIP	23824327
MIRT652801	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT652800	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT652799	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT652798	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT652797	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT1414735	hsa-miR-1	CLIP-seq
MIRT1414736	hsa-miR-1193	CLIP-seq
MIRT1414737	hsa-miR-1251	CLIP-seq
MIRT1414738	hsa-miR-125a-3p	CLIP-seq
MIRT1414739	hsa-miR-1262	CLIP-seq
MIRT1414740	hsa-miR-1278	CLIP-seq
MIRT1414741	hsa-miR-1294	CLIP-seq
MIRT1414742	hsa-miR-1299	CLIP-seq
MIRT1414743	hsa-miR-1305	CLIP-seq
MIRT1414744	hsa-miR-1827	CLIP-seq
MIRT1414745	hsa-miR-194	CLIP-seq
MIRT1414746	hsa-miR-206	CLIP-seq
MIRT1414747	hsa-miR-2117	CLIP-seq
MIRT1414748	hsa-miR-2392	CLIP-seq
MIRT1414749	hsa-miR-23a	CLIP-seq
MIRT1414750	hsa-miR-23b	CLIP-seq
MIRT1414751	hsa-miR-3125	CLIP-seq
MIRT1414752	hsa-miR-3127-3p	CLIP-seq
MIRT1414753	hsa-miR-3136-3p	CLIP-seq
MIRT1414754	hsa-miR-3144-5p	CLIP-seq
MIRT1414755	hsa-miR-3145-3p	CLIP-seq
MIRT1414756	hsa-miR-3152-5p	CLIP-seq
MIRT1414757	hsa-miR-3180-5p	CLIP-seq
MIRT1414758	hsa-miR-3191	CLIP-seq
MIRT1414759	hsa-miR-3194-3p	CLIP-seq
MIRT1414760	hsa-miR-3195	CLIP-seq
MIRT1414761	hsa-miR-3661	CLIP-seq
MIRT1414762	hsa-miR-3663-5p	CLIP-seq
MIRT1414763	hsa-miR-370	CLIP-seq
MIRT1414764	hsa-miR-3909	CLIP-seq
MIRT1414765	hsa-miR-3916	CLIP-seq
MIRT1414766	hsa-miR-3934	CLIP-seq
MIRT1414767	hsa-miR-411	CLIP-seq
MIRT1414768	hsa-miR-4263	CLIP-seq
MIRT1414769	hsa-miR-4273	CLIP-seq
MIRT1414770	hsa-miR-4290	CLIP-seq
MIRT1414771	hsa-miR-4301	CLIP-seq
MIRT1414772	hsa-miR-4312	CLIP-seq
MIRT1414773	hsa-miR-4316	CLIP-seq
MIRT1414774	hsa-miR-4317	CLIP-seq
MIRT1414775	hsa-miR-4455	CLIP-seq
MIRT1414776	hsa-miR-451b	CLIP-seq
MIRT1414777	hsa-miR-4520a-3p	CLIP-seq
MIRT1414778	hsa-miR-4520b-3p	CLIP-seq
MIRT1414779	hsa-miR-4645-3p	CLIP-seq
MIRT1414780	hsa-miR-4652-5p	CLIP-seq
MIRT1414781	hsa-miR-4659a-3p	CLIP-seq
MIRT1414782	hsa-miR-4659b-3p	CLIP-seq
MIRT1414783	hsa-miR-4667-5p	CLIP-seq
MIRT1414784	hsa-miR-4676-5p	CLIP-seq
MIRT1414785	hsa-miR-4677-5p	CLIP-seq
MIRT1414786	hsa-miR-4700-5p	CLIP-seq
MIRT1414787	hsa-miR-4701-3p	CLIP-seq
MIRT1414788	hsa-miR-4735-5p	CLIP-seq
MIRT1414789	hsa-miR-4782-5p	CLIP-seq
MIRT1414790	hsa-miR-489	CLIP-seq
MIRT1414791	hsa-miR-510	CLIP-seq
MIRT1414792	hsa-miR-512-5p	CLIP-seq
MIRT1414793	hsa-miR-516b	CLIP-seq
MIRT1414794	hsa-miR-520a-5p	CLIP-seq
MIRT1414795	hsa-miR-520d-5p	CLIP-seq
MIRT1414796	hsa-miR-524-5p	CLIP-seq
MIRT1414797	hsa-miR-525-5p	CLIP-seq
MIRT1414798	hsa-miR-542-3p	CLIP-seq
MIRT1414799	hsa-miR-548a-5p	CLIP-seq
MIRT1414800	hsa-miR-548ab	CLIP-seq
MIRT1414801	hsa-miR-548ak	CLIP-seq
MIRT1414802	hsa-miR-548b-5p	CLIP-seq
MIRT1414803	hsa-miR-548c-5p	CLIP-seq
MIRT1414804	hsa-miR-548d-5p	CLIP-seq
MIRT1414805	hsa-miR-548h	CLIP-seq
MIRT1414806	hsa-miR-548i	CLIP-seq
MIRT1414807	hsa-miR-548j	CLIP-seq
MIRT1414808	hsa-miR-548n	CLIP-seq
MIRT1414809	hsa-miR-548w	CLIP-seq
MIRT1414810	hsa-miR-548y	CLIP-seq
MIRT1414811	hsa-miR-559	CLIP-seq
MIRT1414812	hsa-miR-562	CLIP-seq
MIRT1414813	hsa-miR-575	CLIP-seq
MIRT1414814	hsa-miR-576-5p	CLIP-seq
MIRT1414815	hsa-miR-607	CLIP-seq
MIRT1414816	hsa-miR-609	CLIP-seq
MIRT1414817	hsa-miR-613	CLIP-seq
MIRT1414818	hsa-miR-631	CLIP-seq
MIRT1414819	hsa-miR-659	CLIP-seq
MIRT1414820	hsa-miR-660	CLIP-seq
MIRT1414821	hsa-miR-663b	CLIP-seq
MIRT1414822	hsa-miR-764	CLIP-seq
MIRT1414823	hsa-miR-769-5p	CLIP-seq
MIRT1414824	hsa-miR-875-3p	CLIP-seq
MIRT1414825	hsa-miR-9	CLIP-seq
MIRT1414740	hsa-miR-1278	CLIP-seq
MIRT1414749	hsa-miR-23a	CLIP-seq
MIRT1414750	hsa-miR-23b	CLIP-seq
MIRT2124496	hsa-miR-27a	CLIP-seq
MIRT2124497	hsa-miR-27b	CLIP-seq
MIRT1414754	hsa-miR-3144-5p	CLIP-seq
MIRT1414758	hsa-miR-3191	CLIP-seq
MIRT1414760	hsa-miR-3195	CLIP-seq
MIRT1414770	hsa-miR-4290	CLIP-seq
MIRT2124498	hsa-miR-450b-5p	CLIP-seq
MIRT1414777	hsa-miR-4520a-3p	CLIP-seq
MIRT1414778	hsa-miR-4520b-3p	CLIP-seq
MIRT1414780	hsa-miR-4652-5p	CLIP-seq
MIRT2124499	hsa-miR-4708-3p	CLIP-seq
MIRT2124500	hsa-miR-4733-5p	CLIP-seq
MIRT2124501	hsa-miR-4747-5p	CLIP-seq
MIRT2124502	hsa-miR-513a-5p	CLIP-seq
MIRT2346732	hsa-miR-148a	CLIP-seq
MIRT2346733	hsa-miR-148b	CLIP-seq
MIRT2346734	hsa-miR-152	CLIP-seq
MIRT1414749	hsa-miR-23a	CLIP-seq
MIRT1414750	hsa-miR-23b	CLIP-seq
MIRT1414760	hsa-miR-3195	CLIP-seq
MIRT1414770	hsa-miR-4290	CLIP-seq
MIRT2346735	hsa-miR-4474-3p	CLIP-seq
MIRT2346735	hsa-miR-4474-3p	CLIP-seq
MIRT1414736	hsa-miR-1193	CLIP-seq
MIRT2461203	hsa-miR-185	CLIP-seq
MIRT1414745	hsa-miR-194	CLIP-seq
MIRT1414748	hsa-miR-2392	CLIP-seq
MIRT2461204	hsa-miR-3135b	CLIP-seq
MIRT2461205	hsa-miR-320a	CLIP-seq
MIRT2461206	hsa-miR-320b	CLIP-seq
MIRT2461207	hsa-miR-320c	CLIP-seq
MIRT2461208	hsa-miR-320d	CLIP-seq
MIRT2461209	hsa-miR-320e	CLIP-seq
MIRT2461210	hsa-miR-4306	CLIP-seq
MIRT2461211	hsa-miR-4429	CLIP-seq
MIRT2461212	hsa-miR-4644	CLIP-seq
MIRT1414784	hsa-miR-4676-5p	CLIP-seq
MIRT1414813	hsa-miR-575	CLIP-seq
MIRT1414740	hsa-miR-1278	CLIP-seq
MIRT2346732	hsa-miR-148a	CLIP-seq
MIRT2346733	hsa-miR-148b	CLIP-seq
MIRT2346734	hsa-miR-152	CLIP-seq
MIRT1414749	hsa-miR-23a	CLIP-seq
MIRT1414750	hsa-miR-23b	CLIP-seq
MIRT2639350	hsa-miR-3064-3p	CLIP-seq
MIRT1414754	hsa-miR-3144-5p	CLIP-seq
MIRT1414755	hsa-miR-3145-3p	CLIP-seq
MIRT1414757	hsa-miR-3180-5p	CLIP-seq
MIRT1414758	hsa-miR-3191	CLIP-seq
MIRT1414761	hsa-miR-3661	CLIP-seq
MIRT2639351	hsa-miR-3922-5p	CLIP-seq
MIRT2639352	hsa-miR-4457	CLIP-seq
MIRT2124498	hsa-miR-450b-5p	CLIP-seq
MIRT1414777	hsa-miR-4520a-3p	CLIP-seq
MIRT1414778	hsa-miR-4520b-3p	CLIP-seq
MIRT1414780	hsa-miR-4652-5p	CLIP-seq
MIRT1414781	hsa-miR-4659a-3p	CLIP-seq
MIRT1414782	hsa-miR-4659b-3p	CLIP-seq
MIRT1414783	hsa-miR-4667-5p	CLIP-seq
MIRT1414786	hsa-miR-4700-5p	CLIP-seq
MIRT2639353	hsa-miR-4753-3p	CLIP-seq
MIRT2639354	hsa-miR-4753-5p	CLIP-seq
MIRT2639355	hsa-miR-4755-3p	CLIP-seq
MIRT2639356	hsa-miR-491-5p	CLIP-seq
MIRT1414794	hsa-miR-520a-5p	CLIP-seq
MIRT1414797	hsa-miR-525-5p	CLIP-seq
MIRT1414818	hsa-miR-631	CLIP-seq
MIRT1414740	hsa-miR-1278	CLIP-seq
MIRT2346732	hsa-miR-148a	CLIP-seq
MIRT2346733	hsa-miR-148b	CLIP-seq
MIRT2346734	hsa-miR-152	CLIP-seq
MIRT1414749	hsa-miR-23a	CLIP-seq
MIRT1414750	hsa-miR-23b	CLIP-seq
MIRT2692726	hsa-miR-2861	CLIP-seq
MIRT2639350	hsa-miR-3064-3p	CLIP-seq
MIRT1414754	hsa-miR-3144-5p	CLIP-seq
MIRT1414755	hsa-miR-3145-3p	CLIP-seq
MIRT1414757	hsa-miR-3180-5p	CLIP-seq
MIRT1414758	hsa-miR-3191	CLIP-seq
MIRT2692727	hsa-miR-3192	CLIP-seq
MIRT1414761	hsa-miR-3661	CLIP-seq
MIRT2692728	hsa-miR-3689a-3p	CLIP-seq
MIRT2692729	hsa-miR-3689c	CLIP-seq
MIRT2639351	hsa-miR-3922-5p	CLIP-seq
MIRT2639352	hsa-miR-4457	CLIP-seq
MIRT1414777	hsa-miR-4520a-3p	CLIP-seq
MIRT1414778	hsa-miR-4520b-3p	CLIP-seq
MIRT1414780	hsa-miR-4652-5p	CLIP-seq
MIRT1414781	hsa-miR-4659a-3p	CLIP-seq
MIRT1414782	hsa-miR-4659b-3p	CLIP-seq
MIRT1414783	hsa-miR-4667-5p	CLIP-seq
MIRT1414786	hsa-miR-4700-5p	CLIP-seq
MIRT2692730	hsa-miR-4728-5p	CLIP-seq
MIRT2639353	hsa-miR-4753-3p	CLIP-seq
MIRT2639354	hsa-miR-4753-5p	CLIP-seq
MIRT2639355	hsa-miR-4755-3p	CLIP-seq
MIRT2639356	hsa-miR-491-5p	CLIP-seq
MIRT1414794	hsa-miR-520a-5p	CLIP-seq
MIRT1414797	hsa-miR-525-5p	CLIP-seq
MIRT1414818	hsa-miR-631	CLIP-seq
MIRT2692731	hsa-miR-661	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	20562859, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	25393282
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	25393282
GO:0019901	Function	Protein kinase binding	IPI	25393282
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IMP	25393282
GO:0031369	Function	Translation initiation factor binding	IPI	25393282
GO:0042149	Process	Cellular response to glucose starvation	IMP	25393282
GO:0051219	Function	Phosphoprotein binding	IDA	25393282
GO:0071456	Process	Cellular response to hypoxia	IMP	25393282

MIM	HGNC	e!Ensembl
605842	11586	ENSG00000106638

Q9Y4P3

Protein name

Transducin beta-like protein 2 (WS beta-transducin repeats protein) (WS-betaTRP) (Williams-Beuren syndrome chromosomal region 13 protein)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	79 → 118	WD domain, G-beta repeat	Repeat
PF00400	WD40	269 → 307	WD domain, G-beta repeat	Repeat

Sequence

MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKK
QKQYQRIRKEKPQQHNFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTK
DFLQREHRSMRANVELDHATLVRFSPDCRAFIVWLANGDTLRVFKMTKREDGGYTFTATP
EDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLKGQVLSTINTNQMNNTHAAVSPC
GRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSAAVHSFAFSNDSRRMASVSKD
GTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALASGSSIHLYNTR
RGEKEECFERVHGECIANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRAS
NESTRQRLQQQLTQAQETLKSLGALKK

Sequence length

447

Interactions

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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 Unknown Diseases (9)

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.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (96)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory kidney	Accessory Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10575226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21740188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21740188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32811528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type V	Hyperlipoproteinemia	Pubtator	19656773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21740188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus-induced head nodding	Nystagmus-induced head nodding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	10575226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams syndrome	Williams Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	33789571	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TBL2 (transducin beta like 2)