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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64114
Gene name	Transmembrane BAX inhibitor motif containing 1
Gene symbol	TMBIM1
Synonyms (NCBI Gene)	LFG3MST100MSTP100PP1201RECS1
Chromosome	2
Chromosome location	2q35

340

Show/Hide all (340)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004039	hsa-miR-124-3p	Microarray	15685193
MIRT004039	hsa-miR-124-3p	Microarray	18668037
MIRT041366	hsa-miR-193b-3p	CLASH	23622248
MIRT1427702	hsa-miR-1277	CLIP-seq
MIRT1427703	hsa-miR-4286	CLIP-seq
MIRT2128128	hsa-miR-4256	CLIP-seq
MIRT2128129	hsa-miR-4268	CLIP-seq
MIRT1427703	hsa-miR-4286	CLIP-seq
MIRT2128130	hsa-miR-4714-5p	CLIP-seq
MIRT2349783	hsa-miR-1236	CLIP-seq
MIRT2349784	hsa-miR-124	CLIP-seq
MIRT2349785	hsa-miR-1252	CLIP-seq
MIRT2349786	hsa-miR-1275	CLIP-seq
MIRT2349787	hsa-miR-127-5p	CLIP-seq
MIRT1427702	hsa-miR-1277	CLIP-seq
MIRT2349788	hsa-miR-130a	CLIP-seq
MIRT2349789	hsa-miR-130b	CLIP-seq
MIRT2349790	hsa-miR-1343	CLIP-seq
MIRT2349791	hsa-miR-148a	CLIP-seq
MIRT2349792	hsa-miR-148b	CLIP-seq
MIRT2349793	hsa-miR-149	CLIP-seq
MIRT2349794	hsa-miR-152	CLIP-seq
MIRT2349795	hsa-miR-1825	CLIP-seq
MIRT2349796	hsa-miR-208a	CLIP-seq
MIRT2349797	hsa-miR-208b	CLIP-seq
MIRT2349798	hsa-miR-224	CLIP-seq
MIRT2349799	hsa-miR-301a	CLIP-seq
MIRT2349800	hsa-miR-301b	CLIP-seq
MIRT2349801	hsa-miR-3064-5p	CLIP-seq
MIRT2349802	hsa-miR-3119	CLIP-seq
MIRT2349803	hsa-miR-3154	CLIP-seq
MIRT2349804	hsa-miR-326	CLIP-seq
MIRT2349805	hsa-miR-330-5p	CLIP-seq
MIRT2349806	hsa-miR-3617	CLIP-seq
MIRT2349807	hsa-miR-3620	CLIP-seq
MIRT2349808	hsa-miR-3666	CLIP-seq
MIRT2349809	hsa-miR-3922-5p	CLIP-seq
MIRT2349810	hsa-miR-412	CLIP-seq
MIRT2349811	hsa-miR-4267	CLIP-seq
MIRT2349812	hsa-miR-4271	CLIP-seq
MIRT1427703	hsa-miR-4286	CLIP-seq
MIRT2349813	hsa-miR-4287	CLIP-seq
MIRT2349814	hsa-miR-4295	CLIP-seq
MIRT2349815	hsa-miR-4420	CLIP-seq
MIRT2349816	hsa-miR-4428	CLIP-seq
MIRT2349817	hsa-miR-4469	CLIP-seq
MIRT2349818	hsa-miR-451b	CLIP-seq
MIRT2349819	hsa-miR-4525	CLIP-seq
MIRT2349820	hsa-miR-454	CLIP-seq
MIRT2349821	hsa-miR-4639-3p	CLIP-seq
MIRT2349822	hsa-miR-4665-5p	CLIP-seq
MIRT2349823	hsa-miR-4685-3p	CLIP-seq
MIRT2349824	hsa-miR-4700-3p	CLIP-seq
MIRT2349825	hsa-miR-4701-5p	CLIP-seq
MIRT2349826	hsa-miR-4707-3p	CLIP-seq
MIRT2349827	hsa-miR-4709-5p	CLIP-seq
MIRT2349828	hsa-miR-4713-5p	CLIP-seq
MIRT2128130	hsa-miR-4714-5p	CLIP-seq
MIRT2349829	hsa-miR-4723-5p	CLIP-seq
MIRT2349830	hsa-miR-4725-3p	CLIP-seq
MIRT2349831	hsa-miR-4731-5p	CLIP-seq
MIRT2349832	hsa-miR-4794	CLIP-seq
MIRT2349833	hsa-miR-494	CLIP-seq
MIRT2349834	hsa-miR-499-5p	CLIP-seq
MIRT2349835	hsa-miR-506	CLIP-seq
MIRT2349836	hsa-miR-588	CLIP-seq
MIRT2349837	hsa-miR-625	CLIP-seq
MIRT2349838	hsa-miR-637	CLIP-seq
MIRT2349839	hsa-miR-641	CLIP-seq
MIRT2349840	hsa-miR-668	CLIP-seq
MIRT2349841	hsa-miR-889	CLIP-seq
MIRT2349842	hsa-miR-891b	CLIP-seq
MIRT2395889	hsa-miR-1279	CLIP-seq
MIRT2349784	hsa-miR-124	CLIP-seq
MIRT2441308	hsa-miR-2355-5p	CLIP-seq
MIRT2441309	hsa-miR-3127-3p	CLIP-seq
MIRT2349809	hsa-miR-3922-5p	CLIP-seq
MIRT2349811	hsa-miR-4267	CLIP-seq
MIRT2441310	hsa-miR-4646-3p	CLIP-seq
MIRT2441311	hsa-miR-4725-5p	CLIP-seq
MIRT2441312	hsa-miR-4798-5p	CLIP-seq
MIRT2441313	hsa-miR-504	CLIP-seq
MIRT2349835	hsa-miR-506	CLIP-seq
MIRT2349841	hsa-miR-889	CLIP-seq
MIRT2349784	hsa-miR-124	CLIP-seq
MIRT2441308	hsa-miR-2355-5p	CLIP-seq
MIRT2441309	hsa-miR-3127-3p	CLIP-seq
MIRT2349809	hsa-miR-3922-5p	CLIP-seq
MIRT2349811	hsa-miR-4267	CLIP-seq
MIRT2441310	hsa-miR-4646-3p	CLIP-seq
MIRT2441311	hsa-miR-4725-5p	CLIP-seq
MIRT2441313	hsa-miR-504	CLIP-seq
MIRT2349835	hsa-miR-506	CLIP-seq
MIRT2461572	hsa-miR-1587	CLIP-seq
MIRT2461573	hsa-miR-1913	CLIP-seq
MIRT2461574	hsa-miR-324-3p	CLIP-seq
MIRT2461575	hsa-miR-4313	CLIP-seq
MIRT2461576	hsa-miR-4492	CLIP-seq
MIRT2461577	hsa-miR-4498	CLIP-seq
MIRT2461578	hsa-miR-4656	CLIP-seq
MIRT2461579	hsa-miR-4675	CLIP-seq
MIRT2461580	hsa-miR-4727-5p	CLIP-seq
MIRT2461581	hsa-miR-4741	CLIP-seq
MIRT2461582	hsa-miR-544	CLIP-seq
MIRT2461583	hsa-miR-762	CLIP-seq
MIRT2461572	hsa-miR-1587	CLIP-seq
MIRT2461573	hsa-miR-1913	CLIP-seq
MIRT2461574	hsa-miR-324-3p	CLIP-seq
MIRT2461575	hsa-miR-4313	CLIP-seq
MIRT2461576	hsa-miR-4492	CLIP-seq
MIRT2461577	hsa-miR-4498	CLIP-seq
MIRT2461578	hsa-miR-4656	CLIP-seq
MIRT2461579	hsa-miR-4675	CLIP-seq
MIRT2461580	hsa-miR-4727-5p	CLIP-seq
MIRT2461581	hsa-miR-4741	CLIP-seq
MIRT2461582	hsa-miR-544	CLIP-seq
MIRT2461583	hsa-miR-762	CLIP-seq
MIRT2643279	hsa-miR-1200	CLIP-seq
MIRT2349783	hsa-miR-1236	CLIP-seq
MIRT2349784	hsa-miR-124	CLIP-seq
MIRT2643280	hsa-miR-1273f	CLIP-seq
MIRT2349787	hsa-miR-127-5p	CLIP-seq
MIRT2349788	hsa-miR-130a	CLIP-seq
MIRT2349789	hsa-miR-130b	CLIP-seq
MIRT2349791	hsa-miR-148a	CLIP-seq
MIRT2349792	hsa-miR-148b	CLIP-seq
MIRT2349794	hsa-miR-152	CLIP-seq
MIRT2461572	hsa-miR-1587	CLIP-seq
MIRT2349795	hsa-miR-1825	CLIP-seq
MIRT2643281	hsa-miR-185	CLIP-seq
MIRT2461573	hsa-miR-1913	CLIP-seq
MIRT2643282	hsa-miR-198	CLIP-seq
MIRT2349796	hsa-miR-208a	CLIP-seq
MIRT2349797	hsa-miR-208b	CLIP-seq
MIRT2643283	hsa-miR-22	CLIP-seq
MIRT2349798	hsa-miR-224	CLIP-seq
MIRT2643284	hsa-miR-2276	CLIP-seq
MIRT2441308	hsa-miR-2355-5p	CLIP-seq
MIRT2643285	hsa-miR-2682	CLIP-seq
MIRT2643286	hsa-miR-2861	CLIP-seq
MIRT2349799	hsa-miR-301a	CLIP-seq
MIRT2349800	hsa-miR-301b	CLIP-seq
MIRT2349801	hsa-miR-3064-5p	CLIP-seq
MIRT2441309	hsa-miR-3127-3p	CLIP-seq
MIRT2643287	hsa-miR-3135b	CLIP-seq
MIRT2643288	hsa-miR-3140-5p	CLIP-seq
MIRT2643289	hsa-miR-3150a-3p	CLIP-seq
MIRT2349803	hsa-miR-3154	CLIP-seq
MIRT2643290	hsa-miR-3160-3p	CLIP-seq
MIRT2643291	hsa-miR-3173-3p	CLIP-seq
MIRT2643292	hsa-miR-3175	CLIP-seq
MIRT2643293	hsa-miR-3194-3p	CLIP-seq
MIRT2461574	hsa-miR-324-3p	CLIP-seq
MIRT2643294	hsa-miR-34a	CLIP-seq
MIRT2643295	hsa-miR-34c-5p	CLIP-seq
MIRT2643296	hsa-miR-361-3p	CLIP-seq
MIRT2349806	hsa-miR-3617	CLIP-seq
MIRT2643297	hsa-miR-3652	CLIP-seq
MIRT2643298	hsa-miR-3657	CLIP-seq
MIRT2349808	hsa-miR-3666	CLIP-seq
MIRT2643299	hsa-miR-3667-3p	CLIP-seq
MIRT2643300	hsa-miR-3714	CLIP-seq
MIRT2643301	hsa-miR-3921	CLIP-seq
MIRT2349809	hsa-miR-3922-5p	CLIP-seq
MIRT2128128	hsa-miR-4256	CLIP-seq
MIRT2349811	hsa-miR-4267	CLIP-seq
MIRT2349814	hsa-miR-4295	CLIP-seq
MIRT2643302	hsa-miR-4303	CLIP-seq
MIRT2643303	hsa-miR-4306	CLIP-seq
MIRT2461575	hsa-miR-4313	CLIP-seq
MIRT2643304	hsa-miR-4324	CLIP-seq
MIRT2643305	hsa-miR-4427	CLIP-seq
MIRT2349816	hsa-miR-4428	CLIP-seq
MIRT2643306	hsa-miR-4430	CLIP-seq
MIRT2643307	hsa-miR-4459	CLIP-seq
MIRT2643308	hsa-miR-4468	CLIP-seq
MIRT2643309	hsa-miR-4480	CLIP-seq
MIRT2643310	hsa-miR-4487	CLIP-seq
MIRT2461576	hsa-miR-4492	CLIP-seq
MIRT2461577	hsa-miR-4498	CLIP-seq
MIRT2643311	hsa-miR-449a	CLIP-seq
MIRT2643312	hsa-miR-449b	CLIP-seq
MIRT2643313	hsa-miR-449c	CLIP-seq
MIRT2643314	hsa-miR-4505	CLIP-seq
MIRT2349818	hsa-miR-451b	CLIP-seq
MIRT2643315	hsa-miR-4522	CLIP-seq
MIRT2643316	hsa-miR-4530	CLIP-seq
MIRT2349820	hsa-miR-454	CLIP-seq
MIRT2349821	hsa-miR-4639-3p	CLIP-seq
MIRT2643317	hsa-miR-4644	CLIP-seq
MIRT2441310	hsa-miR-4646-3p	CLIP-seq
MIRT2643318	hsa-miR-4653-5p	CLIP-seq
MIRT2461578	hsa-miR-4656	CLIP-seq
MIRT2643319	hsa-miR-4669	CLIP-seq
MIRT2461579	hsa-miR-4675	CLIP-seq
MIRT2643320	hsa-miR-4695-5p	CLIP-seq
MIRT2349824	hsa-miR-4700-3p	CLIP-seq
MIRT2349825	hsa-miR-4701-5p	CLIP-seq
MIRT2643321	hsa-miR-4708-3p	CLIP-seq
MIRT2128130	hsa-miR-4714-5p	CLIP-seq
MIRT2643322	hsa-miR-4724-3p	CLIP-seq
MIRT2441311	hsa-miR-4725-5p	CLIP-seq
MIRT2461580	hsa-miR-4727-5p	CLIP-seq
MIRT2461581	hsa-miR-4741	CLIP-seq
MIRT2643323	hsa-miR-4749-3p	CLIP-seq
MIRT2643324	hsa-miR-4756-3p	CLIP-seq
MIRT2349833	hsa-miR-494	CLIP-seq
MIRT2643325	hsa-miR-498	CLIP-seq
MIRT2349834	hsa-miR-499-5p	CLIP-seq
MIRT2441313	hsa-miR-504	CLIP-seq
MIRT2349835	hsa-miR-506	CLIP-seq
MIRT2643326	hsa-miR-520d-5p	CLIP-seq
MIRT2643327	hsa-miR-524-5p	CLIP-seq
MIRT2461582	hsa-miR-544	CLIP-seq
MIRT2643328	hsa-miR-544b	CLIP-seq
MIRT2643329	hsa-miR-558	CLIP-seq
MIRT2349836	hsa-miR-588	CLIP-seq
MIRT2643330	hsa-miR-596	CLIP-seq
MIRT2643331	hsa-miR-605	CLIP-seq
MIRT2643332	hsa-miR-610	CLIP-seq
MIRT2349839	hsa-miR-641	CLIP-seq
MIRT2643333	hsa-miR-646	CLIP-seq
MIRT2643334	hsa-miR-665	CLIP-seq
MIRT2461583	hsa-miR-762	CLIP-seq
MIRT2643335	hsa-miR-767-3p	CLIP-seq
MIRT2349841	hsa-miR-889	CLIP-seq
MIRT2349842	hsa-miR-891b	CLIP-seq
MIRT2643336	hsa-miR-939	CLIP-seq
MIRT2643279	hsa-miR-1200	CLIP-seq
MIRT2349783	hsa-miR-1236	CLIP-seq
MIRT2349784	hsa-miR-124	CLIP-seq
MIRT2643280	hsa-miR-1273f	CLIP-seq
MIRT2349787	hsa-miR-127-5p	CLIP-seq
MIRT2349788	hsa-miR-130a	CLIP-seq
MIRT2349789	hsa-miR-130b	CLIP-seq
MIRT2349791	hsa-miR-148a	CLIP-seq
MIRT2349792	hsa-miR-148b	CLIP-seq
MIRT2349794	hsa-miR-152	CLIP-seq
MIRT2461572	hsa-miR-1587	CLIP-seq
MIRT2349795	hsa-miR-1825	CLIP-seq
MIRT2643281	hsa-miR-185	CLIP-seq
MIRT2461573	hsa-miR-1913	CLIP-seq
MIRT2643282	hsa-miR-198	CLIP-seq
MIRT2349796	hsa-miR-208a	CLIP-seq
MIRT2349797	hsa-miR-208b	CLIP-seq
MIRT2643283	hsa-miR-22	CLIP-seq
MIRT2349798	hsa-miR-224	CLIP-seq
MIRT2643284	hsa-miR-2276	CLIP-seq
MIRT2441308	hsa-miR-2355-5p	CLIP-seq
MIRT2643285	hsa-miR-2682	CLIP-seq
MIRT2643286	hsa-miR-2861	CLIP-seq
MIRT2349799	hsa-miR-301a	CLIP-seq
MIRT2349800	hsa-miR-301b	CLIP-seq
MIRT2349801	hsa-miR-3064-5p	CLIP-seq
MIRT2441309	hsa-miR-3127-3p	CLIP-seq
MIRT2643287	hsa-miR-3135b	CLIP-seq
MIRT2643288	hsa-miR-3140-5p	CLIP-seq
MIRT2643289	hsa-miR-3150a-3p	CLIP-seq
MIRT2349803	hsa-miR-3154	CLIP-seq
MIRT2643290	hsa-miR-3160-3p	CLIP-seq
MIRT2643291	hsa-miR-3173-3p	CLIP-seq
MIRT2643292	hsa-miR-3175	CLIP-seq
MIRT2643293	hsa-miR-3194-3p	CLIP-seq
MIRT2461574	hsa-miR-324-3p	CLIP-seq
MIRT2643294	hsa-miR-34a	CLIP-seq
MIRT2643295	hsa-miR-34c-5p	CLIP-seq
MIRT2643296	hsa-miR-361-3p	CLIP-seq
MIRT2349806	hsa-miR-3617	CLIP-seq
MIRT2643297	hsa-miR-3652	CLIP-seq
MIRT2643298	hsa-miR-3657	CLIP-seq
MIRT2349808	hsa-miR-3666	CLIP-seq
MIRT2643299	hsa-miR-3667-3p	CLIP-seq
MIRT2643300	hsa-miR-3714	CLIP-seq
MIRT2643301	hsa-miR-3921	CLIP-seq
MIRT2349809	hsa-miR-3922-5p	CLIP-seq
MIRT2128128	hsa-miR-4256	CLIP-seq
MIRT2349811	hsa-miR-4267	CLIP-seq
MIRT2349814	hsa-miR-4295	CLIP-seq
MIRT2643302	hsa-miR-4303	CLIP-seq
MIRT2643303	hsa-miR-4306	CLIP-seq
MIRT2461575	hsa-miR-4313	CLIP-seq
MIRT2643304	hsa-miR-4324	CLIP-seq
MIRT2643305	hsa-miR-4427	CLIP-seq
MIRT2349816	hsa-miR-4428	CLIP-seq
MIRT2643306	hsa-miR-4430	CLIP-seq
MIRT2643307	hsa-miR-4459	CLIP-seq
MIRT2643308	hsa-miR-4468	CLIP-seq
MIRT2643309	hsa-miR-4480	CLIP-seq
MIRT2643310	hsa-miR-4487	CLIP-seq
MIRT2461576	hsa-miR-4492	CLIP-seq
MIRT2461577	hsa-miR-4498	CLIP-seq
MIRT2643311	hsa-miR-449a	CLIP-seq
MIRT2643312	hsa-miR-449b	CLIP-seq
MIRT2643313	hsa-miR-449c	CLIP-seq
MIRT2643314	hsa-miR-4505	CLIP-seq
MIRT2349818	hsa-miR-451b	CLIP-seq
MIRT2643315	hsa-miR-4522	CLIP-seq
MIRT2643316	hsa-miR-4530	CLIP-seq
MIRT2349820	hsa-miR-454	CLIP-seq
MIRT2349821	hsa-miR-4639-3p	CLIP-seq
MIRT2643317	hsa-miR-4644	CLIP-seq
MIRT2441310	hsa-miR-4646-3p	CLIP-seq
MIRT2643318	hsa-miR-4653-5p	CLIP-seq
MIRT2461578	hsa-miR-4656	CLIP-seq
MIRT2643319	hsa-miR-4669	CLIP-seq
MIRT2461579	hsa-miR-4675	CLIP-seq
MIRT2643320	hsa-miR-4695-5p	CLIP-seq
MIRT2349824	hsa-miR-4700-3p	CLIP-seq
MIRT2349825	hsa-miR-4701-5p	CLIP-seq
MIRT2643321	hsa-miR-4708-3p	CLIP-seq
MIRT2128130	hsa-miR-4714-5p	CLIP-seq
MIRT2643322	hsa-miR-4724-3p	CLIP-seq
MIRT2441311	hsa-miR-4725-5p	CLIP-seq
MIRT2461580	hsa-miR-4727-5p	CLIP-seq
MIRT2461581	hsa-miR-4741	CLIP-seq
MIRT2643323	hsa-miR-4749-3p	CLIP-seq
MIRT2643324	hsa-miR-4756-3p	CLIP-seq
MIRT2349833	hsa-miR-494	CLIP-seq
MIRT2643325	hsa-miR-498	CLIP-seq
MIRT2349834	hsa-miR-499-5p	CLIP-seq
MIRT2441313	hsa-miR-504	CLIP-seq
MIRT2349835	hsa-miR-506	CLIP-seq
MIRT2643326	hsa-miR-520d-5p	CLIP-seq
MIRT2643327	hsa-miR-524-5p	CLIP-seq
MIRT2461582	hsa-miR-544	CLIP-seq
MIRT2643328	hsa-miR-544b	CLIP-seq
MIRT2643329	hsa-miR-558	CLIP-seq
MIRT2349836	hsa-miR-588	CLIP-seq
MIRT2643330	hsa-miR-596	CLIP-seq
MIRT2643331	hsa-miR-605	CLIP-seq
MIRT2643332	hsa-miR-610	CLIP-seq
MIRT2349839	hsa-miR-641	CLIP-seq
MIRT2643333	hsa-miR-646	CLIP-seq
MIRT2693261	hsa-miR-663b	CLIP-seq
MIRT2643334	hsa-miR-665	CLIP-seq
MIRT2461583	hsa-miR-762	CLIP-seq
MIRT2643335	hsa-miR-767-3p	CLIP-seq
MIRT2349841	hsa-miR-889	CLIP-seq
MIRT2349842	hsa-miR-891b	CLIP-seq
MIRT2643336	hsa-miR-939	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	25764978
GO:0005123	Function	Death receptor binding	IDA	21107705
GO:0005262	Function	Calcium channel activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	16607040
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21107705
GO:0005886	Component	Plasma membrane	TAS
GO:0010008	Component	Endosome membrane	IDA	16607040
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043086	Process	Negative regulation of catalytic activity	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097190	Process	Apoptotic signaling pathway	IBA
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IBA
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	21107705
GO:1902045	Process	Negative regulation of Fas signaling pathway	IMP	21107705
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IMP	21107705
GO:2000504	Process	Positive regulation of blood vessel remodeling	ISS

MIM	HGNC	e!Ensembl
610364	23410	ENSG00000135926

Q969X1

Protein name

Protein lifeguard 3 (Protein RECS1 homolog) (Transmembrane BAX inhibitor motif-containing protein 1)

Protein function

Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01027	Bax1-I	96 → 307	Inhibitor of apoptosis-promoting Bax1	Family

Sequence

MSNPSAPPPYEDRNPLYPGPPPPGGYGQPSVLPGGYPAYPGYPQPGYGHPAGYPQPMPPT
HPMPMNYGPGHGYDGEERAVSDSFGPGEWDDRKVRHTFIRKVYSIISVQLLITVAIIAIF
TFVEPVSAFVRRNVAVYYVSYAVFVVTYLILACCQGPRRRFPWNIILLTLFTFAMGFMTG
TISSMYQTKAVIIAMIITAVVSISVTIFCFQTKVDFTSCTGLFCVLGIVLLVTGIVTSIV
LYFQYVYWLHMLYAALGAICFTLFLAYDTQLVLGNRKHTISPEDYITGALQIYTDIIYIF
TFVLQLMGDRN

Sequence length

311

Interactions

View interactions

	Reactome
			Neutrophil degranulation

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
Moyamoya angiopathy	Likely pathogenic	rs1404218898	RCV004704492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	28960316, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30217448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27005424, 30447906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	28960316, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	28960316, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32170005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29229612, 30217448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28481357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28481357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29229612, 30217448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27005424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	28960316, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	28960316, 29917119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	30217448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30447906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28481357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28481357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TMBIM1 (transmembrane BAX inhibitor motif containing 1)