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TMEM17 (Transmembrane Protein 17) is a Protein Coding gene. Diseases associated with TMEM17 include Orofaciodigital Syndrome I and Orofaciodigital Syndrome. An important paralog of this gene is TMEM80.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 26638075 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0035869 | ciliary transition zone | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007224 | smoothened signaling pathway | IEA,ISS | -- |
GO:0030030 | cell projection organization | IEA | -- |
GO:0060271 | cilium assembly | IEA,ISS | -- |
GO:1905515 | non-motile cilium assembly | IMP | 26982032 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM17 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM17 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tmem17 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmem17 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TMEM17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM17 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM17 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem17 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tmem17 30 31 |
|
OneToOne | |
Dr.27616 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3206 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
917960 | Uncertain Significance: Joubert syndrome | 62,502,453(-) |
C/A NM_198276.3(TMEM17):c.302G>T (p.Gly101Val) |
MISSENSE | |
rs201339749 | Uncertain Significance: Orofaciodigital syndrome I. - | 62,502,449(-) |
G/Tp.Asn102Lys NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) |
MISSENSE | |
rs17854454 | - |
p.Gly26Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofaciodigital syndrome i |
|
|
orofaciodigital syndrome |
|
|
joubert syndrome 14 |
|
|
joubert syndrome 20 |
|
|
meckel syndrome, type 5 |
|
|