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This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
TMEM216 (Transmembrane Protein 216) is a Protein Coding gene. Diseases associated with TMEM216 include Joubert Syndrome 2 and Meckel Syndrome, Type 2. Among its related pathways are superpathway of inositol phosphate compounds and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TMEM80.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 26595381 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005929 | cilium | IDA | 22282472 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | superpathway of inositol phosphate compounds | ||
2 | Organelle biogenesis and maintenance |
.56
|
|
3 | Regulation of PLK1 Activity at G2/M Transition | ||
4 | phospholipases |
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030030 | cell projection organization | IEA | -- |
GO:0060271 | cilium assembly | IMP,IEA | 22282472 |
GO:0097711 | ciliary basal body-plasma membrane docking | TAS | -- |
GO:1905515 | non-motile cilium assembly | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | ||||||||||||||
SP3: | |||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TMEM216 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TMEM216 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TMEM216 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Tmem216 32 |
|
||
mouse (Mus musculus) |
Mammalia | Tmem216 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM216 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | TMEM216 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | TMEM216 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490116 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC555988 32 |
|
||
TMEM216 33 |
|
OneToOne | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057517498 | likely-pathogenic, Meckel syndrome type 2, Joubert syndrome 2 | 61,392,667(+) | T/C | 5_prime_UTR_variant, splice_donor_variant | |
rs1057517512 | likely-pathogenic, Meckel syndrome type 2, Joubert syndrome 2 | 61,393,969(+) | G/ | coding_sequence_variant, frameshift | |
rs1057517528 | likely-pathogenic, Meckel syndrome type 2, Joubert syndrome 2 | 61,393,229(+) | A/G | splice_acceptor_variant | |
rs10897158 | benign, not specified, Joubert syndrome, Meckel-Gruber syndrome, not provided | 61,398,269(+) | G/C/T | coding_sequence_variant, missense_variant, splice_acceptor_variant | |
rs111371929 | likely-benign, uncertain-significance, not specified, Joubert syndrome, Meckel-Gruber syndrome | 61,398,297(+) | A/G | 3_prime_UTR_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
joubert syndrome 2 |
|
|
meckel syndrome, type 2 |
|
|
joubert syndrome with oculorenal anomalies |
|
|
orofaciodigital syndrome vi |
|
|
meckel syndrome, type 1 |
|
|