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	147138
Gene name	Transmembrane channel like 8
Gene symbol	TMC8
Synonyms (NCBI Gene)	EV2EVER2EVIN2
Chromosome	17
Chromosome location	17q25.3
Summary	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908330	G>A,T	Risk-factor	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1567799639	G>C	Risk-factor	Splice donor variant
rs1598923748	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant

Show/Hide all (85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016489	hsa-miR-193b-3p	Microarray	20304954
MIRT018436	hsa-miR-335-5p	Microarray	18185580
MIRT1428130	hsa-miR-103a	CLIP-seq
MIRT1428131	hsa-miR-107	CLIP-seq
MIRT1428132	hsa-miR-1184	CLIP-seq
MIRT1428133	hsa-miR-1207-5p	CLIP-seq
MIRT1428134	hsa-miR-1264	CLIP-seq
MIRT1428135	hsa-miR-1297	CLIP-seq
MIRT1428136	hsa-miR-1305	CLIP-seq
MIRT1428137	hsa-miR-1909	CLIP-seq
MIRT1428138	hsa-miR-193a-3p	CLIP-seq
MIRT1428139	hsa-miR-193b	CLIP-seq
MIRT1428140	hsa-miR-26a	CLIP-seq
MIRT1428141	hsa-miR-26b	CLIP-seq
MIRT1428142	hsa-miR-3119	CLIP-seq
MIRT1428143	hsa-miR-3188	CLIP-seq
MIRT1428144	hsa-miR-3691-3p	CLIP-seq
MIRT1428145	hsa-miR-3926	CLIP-seq
MIRT1428146	hsa-miR-3978	CLIP-seq
MIRT1428147	hsa-miR-4418	CLIP-seq
MIRT1428148	hsa-miR-4459	CLIP-seq
MIRT1428149	hsa-miR-4465	CLIP-seq
MIRT1428150	hsa-miR-4469	CLIP-seq
MIRT1428151	hsa-miR-4480	CLIP-seq
MIRT1428152	hsa-miR-4633-3p	CLIP-seq
MIRT1428153	hsa-miR-4651	CLIP-seq
MIRT1428154	hsa-miR-4695-5p	CLIP-seq
MIRT1428155	hsa-miR-4736	CLIP-seq
MIRT1428156	hsa-miR-4763-3p	CLIP-seq
MIRT1428157	hsa-miR-4773	CLIP-seq
MIRT1428158	hsa-miR-498	CLIP-seq
MIRT1428159	hsa-miR-509-3-5p	CLIP-seq
MIRT1428160	hsa-miR-509-5p	CLIP-seq
MIRT1428161	hsa-miR-519a	CLIP-seq
MIRT1428162	hsa-miR-519b-3p	CLIP-seq
MIRT1428163	hsa-miR-519c-3p	CLIP-seq
MIRT1428164	hsa-miR-548s	CLIP-seq
MIRT1428165	hsa-miR-608	CLIP-seq
MIRT2128250	hsa-miR-1	CLIP-seq
MIRT2128251	hsa-miR-1206	CLIP-seq
MIRT2128252	hsa-miR-206	CLIP-seq
MIRT2128253	hsa-miR-2861	CLIP-seq
MIRT2128254	hsa-miR-3612	CLIP-seq
MIRT2128255	hsa-miR-3614-5p	CLIP-seq
MIRT2128256	hsa-miR-4263	CLIP-seq
MIRT2128257	hsa-miR-432	CLIP-seq
MIRT2128258	hsa-miR-4435	CLIP-seq
MIRT2128259	hsa-miR-4443	CLIP-seq
MIRT1428148	hsa-miR-4459	CLIP-seq
MIRT2128260	hsa-miR-4474-3p	CLIP-seq
MIRT2128261	hsa-miR-4646-5p	CLIP-seq
MIRT1428154	hsa-miR-4695-5p	CLIP-seq
MIRT2128262	hsa-miR-4717-5p	CLIP-seq
MIRT2128263	hsa-miR-576-5p	CLIP-seq
MIRT2128264	hsa-miR-579	CLIP-seq
MIRT2128265	hsa-miR-613	CLIP-seq
MIRT2128266	hsa-miR-650	CLIP-seq
MIRT2128267	hsa-miR-661	CLIP-seq
MIRT2128268	hsa-miR-663b	CLIP-seq
MIRT2128269	hsa-miR-890	CLIP-seq
MIRT2349890	hsa-miR-1254	CLIP-seq
MIRT2349891	hsa-miR-3116	CLIP-seq
MIRT2349892	hsa-miR-3194-3p	CLIP-seq
MIRT2349893	hsa-miR-3671	CLIP-seq
MIRT2349894	hsa-miR-4267	CLIP-seq
MIRT2349895	hsa-miR-4762-5p	CLIP-seq
MIRT2349896	hsa-miR-605	CLIP-seq
MIRT2349897	hsa-miR-607	CLIP-seq
MIRT2128267	hsa-miR-661	CLIP-seq
MIRT2442755	hsa-miR-3124-3p	CLIP-seq
MIRT2442756	hsa-miR-3667-3p	CLIP-seq
MIRT2349894	hsa-miR-4267	CLIP-seq
MIRT2128258	hsa-miR-4435	CLIP-seq
MIRT2128268	hsa-miR-663b	CLIP-seq
MIRT1428132	hsa-miR-1184	CLIP-seq
MIRT2461586	hsa-miR-1205	CLIP-seq
MIRT2461587	hsa-miR-1286	CLIP-seq
MIRT2461588	hsa-miR-3158-5p	CLIP-seq
MIRT2349892	hsa-miR-3194-3p	CLIP-seq
MIRT2461589	hsa-miR-4685-5p	CLIP-seq
MIRT2461590	hsa-miR-4722-5p	CLIP-seq
MIRT2461591	hsa-miR-4786-3p	CLIP-seq
MIRT2461592	hsa-miR-671-5p	CLIP-seq
MIRT2461593	hsa-miR-760	CLIP-seq
MIRT2128262	hsa-miR-4717-5p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	18158319, 30068544, 32917726
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12426567
GO:0005783	Component	Endoplasmic reticulum	IDA	12426567, 18158319
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18158319
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006882	Process	Intracellular zinc ion homeostasis	IDA	18158319
GO:0006882	Process	Intracellular zinc ion homeostasis	IMP	18158319
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IBA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IMP	23429285
GO:0016020	Component	Membrane	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	23429285
GO:0031965	Component	Nuclear membrane	IDA	18158319
GO:0031965	Component	Nuclear membrane	IEA
GO:0032091	Process	Negative regulation of protein binding	IDA	23429285
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	11907583
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEP	12761501
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	23429285
GO:0043120	Function	Tumor necrosis factor binding	IPI	23429285
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	15121867
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	TAS	18309324
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	23429285
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	32917726
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140311	Function	Protein sequestering activity	IDA	23429285
GO:0140311	Function	Protein sequestering activity	IMP	23429285
GO:1902041	Process	Regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	23429285

MIM	HGNC	e!Ensembl
605829	20474	ENSG00000167895

Q8IU68

Protein name

Transmembrane channel-like protein 8 (Epidermodysplasia verruciformis protein 2)

Protein function

Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:23429285, PubMed:30068544, PubMed:32917726). Together with its homolog TMC6/EVER1, forms a complex with calcium-binding protein CIB1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07810	TMC	418 → 528	TMC domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, prostate and testis. {ECO:0000269|PubMed:12906855}.

Sequence

MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQT
LRWQRWQRRRQTVERRLREAAQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLN
LLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSPPGVLRFHNQLWHVLTGRAFT
NTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA
PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYL
RVNVLNGLLVVGAISAIFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQ
LENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIGRDKSSCESYGYNVCDYQCWE
NSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA
GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLL
GLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFS
FPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPG
PKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRF
PSGAEL

Sequence length

726

Interactions

View interactions

592

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epidermodysplasia verruciformis	Pathogenic; Likely pathogenic	rs903461633, rs761550940, rs764753165, rs369371040, rs2145662712, rs1568011732, rs2145664236, rs368631059, rs121908330, rs771079712, rs2510806153, rs1462849002, rs2510788970, rs2510812563, rs2510788991 View all (13 more)	RCV001380265 RCV001385299 RCV001868870 RCV002039234 RCV001910451 RCV001942197 RCV002036288 RCV002624108 RCV001390398 RCV002715788 RCV002690143 RCV002815589 RCV002880857 RCV003017266 RCV003759779 RCV003595410 RCV003594339 RCV003759927 RCV003759984 RCV003758344 RCV003761153 RCV003868395 RCV002234348 RCV000815469 RCV001204473 RCV001232909 RCV001236391 RCV001241986
Epidermodysplasia verruciformis, susceptibility to, 2	Likely pathogenic; Pathogenic	rs369371040, rs121908330, rs2510788991	RCV003989720 RCV000005013 RCV003153188

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11651555, rs11656593, rs77048878	RCV005909640 RCV005909649 RCV005924894
Cholangiocarcinoma	Benign	rs77048878	RCV005924900
Epidermodysplasia verruciformis, susceptibility to, 1	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs746193490, rs150546646, rs139972217, rs151076155, rs200226247, rs1002160081, rs760559122, rs746051835, rs1187732896, rs1598923439, rs1434316891, rs2075272237	RCV003483823 RCV001281052 RCV002060293 RCV000630738 RCV000768340 RCV000768341 RCV000807311 RCV000807232 RCV000794052 RCV000813270 RCV001027807 RCV001281030
Gastric cancer	Benign	rs11651555, rs11656593, rs77048878	RCV005909644 RCV005909653 RCV005924897
Lung cancer	Benign	rs77048878	RCV005924901
Malignant lymphoma, large B-cell, diffuse	Benign	rs11651555, rs11656593, rs77048878	RCV005909642 RCV005909651 RCV005924895
Malignant tumor of esophagus	Benign	rs11651555, rs11656593	RCV005909641 RCV005909650
Melanoma	Benign	rs11651555, rs11656593	RCV005909647 RCV005909656
Ovarian serous cystadenocarcinoma	Benign	rs11651555, rs11656593, rs77048878	RCV005909645 RCV005909654 RCV005924898
Sarcoma	Benign	rs11651555, rs11656593, rs77048878	RCV005909643 RCV005909652 RCV005924896
Thymoma	Benign	rs11651555, rs11656593, rs77048878	RCV005909646 RCV005909655 RCV005924899
TMC8-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs374762240, rs748642267, rs775427703, rs2510755982, rs753988232, rs377044337, rs150546646, rs139972217, rs76467743, rs117156381, rs145995933, rs78508365, rs1002758195, rs201477740, rs201749146, rs139756868, rs150261314, rs753745214 View all (3 more)	RCV003945994 RCV003950891 RCV003916609 RCV003948924 RCV003947125 RCV003947180 RCV003925579 RCV003915482 RCV003935749 RCV003928047 RCV003928048 RCV003928049 RCV003965442 RCV003965449 RCV003936195 RCV003943215 RCV003920828 RCV003936202
Uterine corpus endometrial carcinoma	Benign	rs11651555, rs11656593	RCV005909648 RCV005909657

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	34899684
Carcinoma Renal Cell	Associate	37468683
Carcinoma Squamous Cell	Associate	18224692, 25853559
Epidermodysplasia Verruciformis	Associate	10844558, 17139267, 18158319, 18224692, 21387292, 22903682, 23429285, 24586810, 25378492, 25853559, 30068544, 32917957, 33818984, 35154113, 36170758, 36602881 View all (1 more)
Head and Neck Neoplasms	Associate	25853559
Immune System Diseases	Associate	35154113
Infections	Associate	25853559
Melanoma	Associate	34899684
Neoplasms Squamous Cell	Associate	24913986
Papillomavirus Infections	Associate	18224692, 24586810, 25853559
Skin Diseases	Associate	30068544
Skin Neoplasms	Associate	23429285, 24586810
Squamous Cell Carcinoma of Head and Neck	Associate	25853559
Uterine Cervical Dysplasia	Associate	20084279
Uterine Cervical Neoplasms	Associate	21387292, 25853559
Uterine Cervicitis	Associate	21387292

TMC8 (transmembrane channel like 8)