1. Gene
  2. TMC6 - transmembrane channel like 6 Gene

TMC6 - transmembrane channel like 6 Gene

Homo sapiens

Also known as EV1; lnc; EVER1; EVIN1; LAK-4P; TNRC6C-AS1

Gene ID: 11322 | Gene type: protein coding

About TMC6

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,107,397-78,132,427 (from NCBI)

This gene has 32 transcripts (splice variants), 260 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 21.6), lymph node (RPKM 18.5) and 20 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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

TMC6 Products(8)

mRNA Protein Name
NM_001127198.5 NP_001120670.1 transmembrane channel-like protein 6 isoform 1
NM_001321185.1 NP_001308114.1 transmembrane channel-like protein 6 isoform 1
NM_001374593.1 NP_001361522.1 transmembrane channel-like protein 6 isoform 2
NM_001374594.1 NP_001361523.1 transmembrane channel-like protein 6 isoform 2
NM_001374596.1 NP_001361525.1 transmembrane channel-like protein 6 isoform 1
NM_001375353.1 NP_001362282.1 transmembrane channel-like protein 6 isoform 1
NM_001375354.1 NP_001362283.1 transmembrane channel-like protein 6 isoform 1
NM_007267.7 NP_009198.4 transmembrane channel-like protein 6 isoform 1
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
Biological Process GO Annotation Evidence Reference Source
involved in intracellular zinc ion homeostasis IDA
IDA: Inferred from direct assay
18158319 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
32917726 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

TMC6 Protein Structure

TMC

TMC: TMC domain (540 - 646)

  • 0
  • 200
  • 400
  • 600
  • 805 a.a.
Protein Preferred Names Protein Names

transmembrane channel-like protein 6

TNRC6C antisense RNA 1

TMC6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TMC6 Q7Z403 ZBTB2 Homo sapiens Q8N680 32296183
Intra
TMC6 Q7Z403 PECAM1 Homo sapiens P16284 32814053
Intra
TMC6 Q7Z403 PECAM1 Homo sapiens P16284 32814053
Intra
TMC6 Q7Z403 PECAM1 Homo sapiens P16284 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Common Wart

Verruca Vulgaris

Viral Warts Nos

Filiform Warts

Digitate Warts

Plantar Wart

Verruca Plantaris

Verrucae On Sole Of Foot

Mosaic Plantar Warts

Deafness, Autosomal Recessive 76

DFNB76

Autosomal Recessive Nonsyndromic Deafness 76

Autosomal Recessive Deafness 76

Deafness, Autosomal Recessive, 76

Deafness, Autosomal Recessive, Type 76

Epidemic Pleurodynia

Bornholm Disease

Epidemic Myalgia

Pleurodynia, Epidemic

Devil'S Grip

Bamble Disease

Epidemic Pleurisy

Epidemic, Myositis

Dabney'S Grip

Epidemic Benign Dry Pleurisy

Epidemic Cervical Myalgia

Angiokeratoma Of Fordyce

Fordyce Angiokeratoma

Fordyce'S Spot

Fordyce-Type Angiokeratoma Of Scrotum

Focal Epithelial Hyperplasia

Heck'S Disease

Heck Disease

Multifocal Epithelial Hyperplasia

Keratosis, Seborrheic

Seborrheic Keratosis

Keratosis, Seborrheic, Somatic

Basal Cell Papilloma

Keratosis Seborrheica

KERSEB

Acanthoma
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

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

Orthologs Information

Species Symbol Source ID
Bos taurus TMC6 VGNC VGNC:35922
Rattus norvegicus TMC6 RGD RGD:1591146
Canis familiaris TMC6 VGNC VGNC:47425
Mus musculus TMC6 MGD MGI:1098686
Macaca mulatta TMC6 VGNC VGNC:79109