TMEM47 (transmembrane protein 47)

Gene

• Entrez ID: 83604
• Gene name: Transmembrane protein 47
• Gene symbol: TMEM47
• Synonyms (NCBI Gene): BCMP1, TM4SF10, VAB-9
• Chromosome: X
• Chromosome location: Xp21.1
• Summary: This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167296	C>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019348	hsa-miR-148b-3p	Microarray	17612493
MIRT021761	hsa-miR-132-3p	Microarray	17612493
MIRT551874	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551872	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551871	hsa-miR-496	HITS-CLIP	21572407
MIRT551870	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551869	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551868	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551867	hsa-miR-6818-5p	HITS-CLIP	21572407
MIRT551874	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551873	hsa-miR-3146	PAR-CLIP	21572407
MIRT551872	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551871	hsa-miR-496	PAR-CLIP	21572407
MIRT551870	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551869	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551868	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551867	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT450405	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450403	hsa-miR-3123	PAR-CLIP	22100165
MIRT450404	hsa-miR-3919	PAR-CLIP	22100165
MIRT450402	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT450401	hsa-miR-3161	PAR-CLIP	22100165
MIRT450400	hsa-miR-599	PAR-CLIP	22100165
MIRT551874	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551872	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551871	hsa-miR-496	HITS-CLIP	21572407
MIRT551870	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551869	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551868	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551867	hsa-miR-6818-5p	HITS-CLIP	21572407
MIRT551874	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551873	hsa-miR-3146	PAR-CLIP	21572407
MIRT551872	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551871	hsa-miR-496	PAR-CLIP	21572407
MIRT551870	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551869	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551868	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551867	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT450405	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450403	hsa-miR-3123	PAR-CLIP	22100165
MIRT450404	hsa-miR-3919	PAR-CLIP	22100165
MIRT450402	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT450401	hsa-miR-3161	PAR-CLIP	22100165
MIRT450400	hsa-miR-599	PAR-CLIP	22100165
MIRT1437587	hsa-miR-122	CLIP-seq
MIRT1437588	hsa-miR-1245	CLIP-seq
MIRT1437589	hsa-miR-2113	CLIP-seq
MIRT1437590	hsa-miR-224	CLIP-seq
MIRT1437591	hsa-miR-3148	CLIP-seq
MIRT1437592	hsa-miR-34b	CLIP-seq
MIRT1437593	hsa-miR-3606	CLIP-seq
MIRT1437594	hsa-miR-3662	CLIP-seq
MIRT1437595	hsa-miR-3692	CLIP-seq
MIRT1437596	hsa-miR-371-5p	CLIP-seq
MIRT1437597	hsa-miR-371b-5p	CLIP-seq
MIRT1437598	hsa-miR-376c	CLIP-seq
MIRT1437599	hsa-miR-3941	CLIP-seq
MIRT1437600	hsa-miR-3944-5p	CLIP-seq
MIRT1437601	hsa-miR-4263	CLIP-seq
MIRT1437602	hsa-miR-4329	CLIP-seq
MIRT1437603	hsa-miR-4452	CLIP-seq
MIRT1437604	hsa-miR-466	CLIP-seq
MIRT1437605	hsa-miR-4668-5p	CLIP-seq
MIRT1437606	hsa-miR-4672	CLIP-seq
MIRT1437607	hsa-miR-4694-3p	CLIP-seq
MIRT1437608	hsa-miR-4698	CLIP-seq
MIRT1437609	hsa-miR-4731-3p	CLIP-seq
MIRT1437610	hsa-miR-4764-5p	CLIP-seq
MIRT1437611	hsa-miR-4765	CLIP-seq
MIRT1437612	hsa-miR-4793-5p	CLIP-seq
MIRT1437613	hsa-miR-4799-5p	CLIP-seq
MIRT1437614	hsa-miR-4801	CLIP-seq
MIRT1437615	hsa-miR-576-5p	CLIP-seq
MIRT1437616	hsa-miR-888	CLIP-seq
MIRT1437617	hsa-miR-921	CLIP-seq
MIRT1554970	hsa-miR-1279	CLIP-seq
MIRT1554971	hsa-miR-302f	CLIP-seq
MIRT1437594	hsa-miR-3662	CLIP-seq
MIRT1437599	hsa-miR-3941	CLIP-seq
MIRT1437604	hsa-miR-466	CLIP-seq
MIRT1437606	hsa-miR-4672	CLIP-seq
MIRT1437608	hsa-miR-4698	CLIP-seq
MIRT1437609	hsa-miR-4731-3p	CLIP-seq
MIRT1554972	hsa-miR-4753-3p	CLIP-seq
MIRT1437612	hsa-miR-4793-5p	CLIP-seq
MIRT1437614	hsa-miR-4801	CLIP-seq
MIRT2131096	hsa-miR-1253	CLIP-seq
MIRT1437591	hsa-miR-3148	CLIP-seq
MIRT2131097	hsa-miR-3154	CLIP-seq
MIRT2131098	hsa-miR-320a	CLIP-seq
MIRT2131099	hsa-miR-320b	CLIP-seq
MIRT2131100	hsa-miR-320c	CLIP-seq
MIRT2131101	hsa-miR-320d	CLIP-seq
MIRT2131102	hsa-miR-3973	CLIP-seq
MIRT2131103	hsa-miR-4251	CLIP-seq
MIRT2131104	hsa-miR-4429	CLIP-seq
MIRT2131105	hsa-miR-4663	CLIP-seq
MIRT1437605	hsa-miR-4668-5p	CLIP-seq
MIRT2131106	hsa-miR-4803	CLIP-seq
MIRT2131107	hsa-miR-548k	CLIP-seq
MIRT2352409	hsa-miR-145	CLIP-seq
MIRT2352410	hsa-miR-1825	CLIP-seq
MIRT2352411	hsa-miR-199a-5p	CLIP-seq
MIRT2352412	hsa-miR-199b-5p	CLIP-seq
MIRT2352413	hsa-miR-3117-5p	CLIP-seq
MIRT2352414	hsa-miR-3180-5p	CLIP-seq
MIRT2352415	hsa-miR-3591-5p	CLIP-seq
MIRT2352416	hsa-miR-3658	CLIP-seq
MIRT2352417	hsa-miR-452	CLIP-seq
MIRT2352418	hsa-miR-4676-3p	CLIP-seq
MIRT2352419	hsa-miR-4711-3p	CLIP-seq
MIRT2352420	hsa-miR-494	CLIP-seq
MIRT2352421	hsa-miR-495	CLIP-seq
MIRT2352422	hsa-miR-511	CLIP-seq
MIRT2352423	hsa-miR-514	CLIP-seq
MIRT2352424	hsa-miR-514b-3p	CLIP-seq
MIRT2434119	hsa-miR-1197	CLIP-seq
MIRT2434120	hsa-miR-154	CLIP-seq
MIRT2434121	hsa-miR-3129-3p	CLIP-seq
MIRT2434122	hsa-miR-3194-3p	CLIP-seq
MIRT2434123	hsa-miR-4427	CLIP-seq
MIRT2434124	hsa-miR-4680-3p	CLIP-seq
MIRT2434125	hsa-miR-622	CLIP-seq
MIRT1437588	hsa-miR-1245	CLIP-seq
MIRT2131096	hsa-miR-1253	CLIP-seq
MIRT2352409	hsa-miR-145	CLIP-seq
MIRT2352410	hsa-miR-1825	CLIP-seq
MIRT2646120	hsa-miR-186	CLIP-seq
MIRT2352411	hsa-miR-199a-5p	CLIP-seq
MIRT2352412	hsa-miR-199b-5p	CLIP-seq
MIRT2646121	hsa-miR-2278	CLIP-seq
MIRT2352413	hsa-miR-3117-5p	CLIP-seq
MIRT2646122	hsa-miR-3133	CLIP-seq
MIRT2646123	hsa-miR-3145-3p	CLIP-seq
MIRT2131097	hsa-miR-3154	CLIP-seq
MIRT2646124	hsa-miR-3158-3p	CLIP-seq
MIRT2352414	hsa-miR-3180-5p	CLIP-seq
MIRT2646125	hsa-miR-3529	CLIP-seq
MIRT1437593	hsa-miR-3606	CLIP-seq
MIRT1437598	hsa-miR-376c	CLIP-seq
MIRT2646126	hsa-miR-379	CLIP-seq
MIRT2646127	hsa-miR-410	CLIP-seq
MIRT2131103	hsa-miR-4251	CLIP-seq
MIRT2646128	hsa-miR-4280	CLIP-seq
MIRT2646129	hsa-miR-4445	CLIP-seq
MIRT2646130	hsa-miR-4446-3p	CLIP-seq
MIRT2646131	hsa-miR-4451	CLIP-seq
MIRT2646132	hsa-miR-4477b	CLIP-seq
MIRT2646133	hsa-miR-4650-3p	CLIP-seq
MIRT2131105	hsa-miR-4663	CLIP-seq
MIRT2646134	hsa-miR-4760-5p	CLIP-seq
MIRT2352420	hsa-miR-494	CLIP-seq
MIRT2646135	hsa-miR-548ag	CLIP-seq
MIRT2646136	hsa-miR-548ai	CLIP-seq
MIRT2646137	hsa-miR-548p	CLIP-seq
MIRT2646138	hsa-miR-628-5p	CLIP-seq
MIRT1437617	hsa-miR-921	CLIP-seq
MIRT1437588	hsa-miR-1245	CLIP-seq
MIRT1554970	hsa-miR-1279	CLIP-seq
MIRT2693525	hsa-miR-129-3p	CLIP-seq
MIRT2352409	hsa-miR-145	CLIP-seq
MIRT2352410	hsa-miR-1825	CLIP-seq
MIRT2646120	hsa-miR-186	CLIP-seq
MIRT2352411	hsa-miR-199a-5p	CLIP-seq
MIRT2352412	hsa-miR-199b-5p	CLIP-seq
MIRT2693526	hsa-miR-19a	CLIP-seq
MIRT2693527	hsa-miR-19b	CLIP-seq
MIRT2693528	hsa-miR-2277-3p	CLIP-seq
MIRT2646121	hsa-miR-2278	CLIP-seq
MIRT2693529	hsa-miR-297	CLIP-seq
MIRT2352413	hsa-miR-3117-5p	CLIP-seq
MIRT2646122	hsa-miR-3133	CLIP-seq
MIRT2646123	hsa-miR-3145-3p	CLIP-seq
MIRT2693530	hsa-miR-3149	CLIP-seq
MIRT2646124	hsa-miR-3158-3p	CLIP-seq
MIRT2693531	hsa-miR-3173-5p	CLIP-seq
MIRT2352414	hsa-miR-3180-5p	CLIP-seq
MIRT2646125	hsa-miR-3529	CLIP-seq
MIRT1437593	hsa-miR-3606	CLIP-seq
MIRT2693532	hsa-miR-3610	CLIP-seq
MIRT2693533	hsa-miR-3613-3p	CLIP-seq
MIRT2693534	hsa-miR-3669	CLIP-seq
MIRT2693535	hsa-miR-370	CLIP-seq
MIRT1437598	hsa-miR-376c	CLIP-seq
MIRT2646126	hsa-miR-379	CLIP-seq
MIRT2646127	hsa-miR-410	CLIP-seq
MIRT2646128	hsa-miR-4280	CLIP-seq
MIRT2693536	hsa-miR-4432	CLIP-seq
MIRT2646129	hsa-miR-4445	CLIP-seq
MIRT2646130	hsa-miR-4446-3p	CLIP-seq
MIRT2646131	hsa-miR-4451	CLIP-seq
MIRT2646132	hsa-miR-4477b	CLIP-seq
MIRT2646133	hsa-miR-4650-3p	CLIP-seq
MIRT2131105	hsa-miR-4663	CLIP-seq
MIRT2693537	hsa-miR-4687-5p	CLIP-seq
MIRT2693538	hsa-miR-4696	CLIP-seq
MIRT2646134	hsa-miR-4760-5p	CLIP-seq
MIRT2352420	hsa-miR-494	CLIP-seq
MIRT2693539	hsa-miR-499-5p	CLIP-seq
MIRT2693540	hsa-miR-520d-5p	CLIP-seq
MIRT2693541	hsa-miR-524-5p	CLIP-seq
MIRT2646135	hsa-miR-548ag	CLIP-seq
MIRT2646136	hsa-miR-548ai	CLIP-seq
MIRT2693542	hsa-miR-548an	CLIP-seq
MIRT2646137	hsa-miR-548p	CLIP-seq
MIRT2693543	hsa-miR-570	CLIP-seq
MIRT2646138	hsa-miR-628-5p	CLIP-seq
MIRT2693544	hsa-miR-668	CLIP-seq
MIRT1437617	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0016020	Component	Membrane	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

Other IDs

• MIM: 300698
• HGNC: 18515
• e!Ensembl: ENSG00000147027

Protein

• UniProt ID: Q9BQJ4
• Protein name: Transmembrane protein 47 (Brain cell membrane protein 1) (Transmembrane 4 superfamily member 10)
• Protein function: Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the
• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult brain, fetal brain, cerebellum, heart, lung, prostate and thyroid. {ECO:0000269|PubMed:24603971}.
• Sequence:

  MASAGSGMEEVRVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWVTADHQYYLSLWESCRK
  PASLDIWHCESTLSSDWQIATLALLLGGAAIILIAFLVGLISICVGSRRRFYRPVAVMLF
  AAVVLQVCSLVLYPIKFIETVSLKIYHEFNWGYGLAWGATIFSFGGAILYCLNPKNYEDY
  Y

• Sequence length: 181