TMC8 - transmembrane channel like 8 Gene

Homo sapiens

Also known as EV2; EVER2; EVIN2

Gene ID: 147138 | Gene type: protein coding

About TMC8

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,130,771-78,142,968 (from NCBI)

This gene has 16 transcripts (splice variants), 168 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in lymph node (RPKM 30.6), spleen (RPKM 30.0) and 9 other tissues.

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 either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

TMC8 Products(1)

mRNA	Protein	Name
NM_152468.5	NP_689681.2	transmembrane channel-like protein 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18158319	GOA
enables protein sequestering activity	IDA IDA: Inferred from direct assay	23429285	GOA
enables tumor necrosis factor binding	IPI IPI: Inferred from physical interaction	23429285	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular zinc ion homeostasis	IDA IDA: Inferred from direct assay	18158319	GOA
involved in intracellular zinc ion homeostasis	IMP IMP: Inferred from mutant phenotype	18158319	GOA
involved in negative regulation of protein binding	IDA IDA: Inferred from direct assay	23429285	GOA
involved in negative regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	23429285	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	23429285	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	32917726	GOA
involved in regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA IDA: Inferred from direct assay	23429285	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18158319	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12426567	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12426567	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	18158319	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMC8 Protein Structure

TMC

0
200
400
600
726 a.a.

Protein Preferred Names

Protein Names

transmembrane channel-like protein 8

epidermodysplasia verruciformis 2

Related Diseases

Diseases

Alias

Epidermodysplasia Verruciformis 2

Epidermodysplasia Verruciformis, Susceptibility To, 2

EV2

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis, Susceptibility To, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis	EV1
Lewandowsky-Lutz Syndrome	Ev

Skin Carcinoma

Skin Cancer	Carcinoma Of Skin
Ca - Skin Cancer	Cancer Of Skin
Malignant Neoplasm Of Skin	Melanoma And Non-Melanoma Skin Cancer
Skin Cancers	Cancer, Skin

Pityriasis Versicolor

Tinea Versicolor

Infection By Pityrosporum Furfur

Superficial Mycosis

Piedra

Steroid-Modified Tinea Infection

Plantar Wart

Verruca Plantaris	Verrucae On Sole Of Foot
Mosaic Plantar Warts

Common Wart

Verruca Vulgaris	Viral Warts Nos
Filiform Warts	Digitate Warts

Angiokeratoma Of Fordyce

Fordyce Angiokeratoma	Fordyce'S Spot
Fordyce-Type Angiokeratoma Of Scrotum

Keratosis, Seborrheic

Seborrheic Keratosis	Keratosis, Seborrheic, Somatic
Basal Cell Papilloma	Keratosis Seborrheica
KERSEB

Focal Epithelial Hyperplasia

Heck'S Disease	Heck Disease
Multifocal Epithelial Hyperplasia

Acanthoma

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds
EDSSPD3	Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Slc39a13-Related Speds	Slc39a13-Related Spondylodysplastic Eds
Spondylocheirodysplastic Ehlers-Danlos Syndrome	Speds-Slc39a13
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia	Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Immunodeficiency 13

Idiopathic Cd4 Lymphopenia	IMD13
Icl	Immunodeficiency, Type 13

Keratosis

Actinic Keratosis

Hyperkeratosis

Kahrizi Syndrome

KHRZ	Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive
Intellectual Disability, Kahrizi Type	Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome

Whim Syndrome 1

Whim Syndrome	Whims
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis	WHIMS1
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome	Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1
Myelokathexis, Isolated	Wilm
Warts-Infections-Leukopenia-Myelokatexis Syndrome	Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1

Filippi Syndrome

Scott Craniodigital Syndrome With Mental Retardation	Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome
FLPIS	Scott Bryant Graham Syndrome
Craniodigital-Intellectual Disability Syndrome	Scott Craniodigital Syndrome
Scott-Bryant-Graham Syndrome	Syndactyly, Type I, With Microcephaly And Mental Retardation
Syndactyly Type I With Microcephaly And Intellectual Disability	Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly
Craniodigital Syndrome With Intellectual Disability	Craniodigital Syndrome-Intellectual Disability Syndrome
Craniodigital Syndrome-Intellectual Disability, Scott Type	Intellectual Disability-Craniodigital Syndrome

Anogenital Venereal Wart

Genital Warts	Condylomata Acuminata
Anogenital Warts	Condyloma Acuminatum
Anogenital Human Papilloma Virus Infectious Disease	Genital Wart Virus Infectious Disease
Venereal Wart	Venereal Warts
Verrucae Anogenitales	Verrucae Genitales

Actinic Keratosis

Solar Keratosis	Actinic Keratosis
Senile Hyperkeratosis	Sk - Solar Keratosis
Keratosis, Actinic	Seborrheic Keratosis
Ak - [Actinic Keratosis]	Sk - [Solar Keratosis]

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14628	TMC8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMC8	VGNC	VGNC:35924
Macaca mulatta	TMC8	VGNC	VGNC:79253
Mus musculus	TMC8	MGD	MGI:2669037
Rattus norvegicus	TMC8	RGD	RGD:1591150
Canis familiaris	TMC8	VGNC	VGNC:47427
Felis catus	TMC8	VGNC	VGNC:66238

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