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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83604
Gene name	Transmembrane protein 47
Gene symbol	TMEM47
Synonyms (NCBI Gene)	BCMP1TM4SF10VAB-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]

Show/Hide all (1)

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

209

Show/Hide all (209)

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

Show/Hide all (8)

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

MIM	HGNC	e!Ensembl
300698	18515	ENSG00000147027

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

Family and domains

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

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 Unknown Diseases (5)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DANDY-WALKER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	15345028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28944917, 33745390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	24603971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21606880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	15345028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	15345028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35561450	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18056173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34285060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32793117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TMEM47 (transmembrane protein 47)