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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	147138
Gene name Gene Name - the full gene name approved by the HGNC.	Transmembrane channel like 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TMC8
Synonyms (NCBI Gene) Gene synonyms aliases	EV2, EVER2, EVIN2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EV2
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	IDA	18158319
GO:0005515	Function	Protein binding	IPI	18158319, 30068544
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IDA	12426567
GO:0005783	Component	Endoplasmic reticulum	IDA	12426567, 18158319
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18158319
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0008381	Function	Mechanosensitive ion channel activity	IBA	21873635
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	23429285
GO:0031965	Component	Nuclear membrane	IDA	18158319
GO:0032091	Process	Negative regulation of protein binding	IDA	23429285
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0043120	Function	Tumor necrosis factor binding	IPI	23429285
GO:0055069	Process	Zinc ion homeostasis	IDA	18158319
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140311	Function	Protein sequestering activity	IDA	23429285
GO:1902041	Process	Regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	23429285

MIM	HGNC	e!Ensembl
605829	20474	ENSG00000167895

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259
Epidermodysplasia verruciformis	Epidermodysplasia Verruciformis, Epidermodysplasia verruciformis	rs121908330, rs121908327, rs121908329, rs769471844, rs1555655146, rs1567989416, rs1567997496, rs143773090, rs773779601, rs1598895511, rs1598923748, rs1486611027, rs1392702424, rs202217062	12426567

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Epidermodysplasia Verruciformis	epidermodysplasia verruciformis, susceptibility to, 2, epidermodysplasia verruciformis	GenCC
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)