TMC8 - transmembrane channel like 8 Gene

Also Known as EV2; EVER2; EVIN2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 147138

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 References 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 References 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 References 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

TMC: TMC domain (418 - 528)

  • 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

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 Set / 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
Others TMC8 NCBI