Free for academic non-profit institutions. Other users need a Commercial license
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 (Transmembrane Channel Like 8) is a Protein Coding gene. Diseases associated with TMC8 include Epidermodysplasia Verruciformis 2 and Epidermodysplasia Verruciformis 1. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is TMC4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18158319 |
GO:0008381 | mechanosensitive ion channel activity | IBA | 21873635 |
GO:0043120 | tumor necrosis factor binding | IPI | 23429285 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IDA | 12426567 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 12426567 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | 18158319 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001558 | regulation of cell growth | IDA | 18158319 |
GO:0006811 | ion transport | IEA | -- |
GO:0031333 | negative regulation of protein complex assembly | IDA | 23429285 |
GO:0032091 | negative regulation of protein binding | IDA | 23429285 |
GO:0034220 | ion transmembrane transport | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | ^ | 13 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMC8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMC8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMC8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tmc8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmc8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TMC8 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMC8 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | TMC8 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
836154 | Uncertain Significance: Epidermodysplasia verruciformis | 78,141,023(+) |
G/A NM_152468.5(TMC8):c.2092G>A (p.Ala698Thr) |
MISSENSE | |
838905 | Uncertain Significance: Epidermodysplasia verruciformis | 78,134,412(+) |
C/G NM_152468.5(TMC8):c.835C>G (p.Arg279Gly) |
MISSENSE | |
844669 | Uncertain Significance: Epidermodysplasia verruciformis | 78,138,064(+) |
T/G NM_152468.5(TMC8):c.1409T>G (p.Leu470Arg) |
MISSENSE | |
845524 | Uncertain Significance: Epidermodysplasia verruciformis | 78,133,948(+) |
G/A NM_152468.5(TMC8):c.764G>A (p.Arg255Gln) |
MISSENSE | |
846234 | Uncertain Significance: Epidermodysplasia verruciformis | 78,137,342(+) |
A/G NM_152468.5(TMC8):c.1235A>G (p.Asn412Ser) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidermodysplasia verruciformis 2 |
|
|
epidermodysplasia verruciformis 1 |
|
|
pityriasis versicolor |
|
|
superficial mycosis |
|
|
skin carcinoma |
|
|