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This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TCTN2 (Tectonic Family Member 2) is a Protein Coding gene. Diseases associated with TCTN2 include Meckel Syndrome, Type 8 and Joubert Syndrome 24. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TCTN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0035869 | ciliary transition zone | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Organelle biogenesis and maintenance |
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2 | Regulation of PLK1 Activity at G2/M Transition |
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:0097711 | ciliary basal body-plasma membrane docking | TAS | -- |
GO:1904491 | protein localization to ciliary transition zone | IEA,IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TCTN2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TCTN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TCTN2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tctn2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tctn2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TCTN2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TCTN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TCTN2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tctn2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tctn2 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
881226 | Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 | 123,673,648(+) |
G/T NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) |
MISSENSE | |
881227 | Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 | 123,679,182(+) |
T/A NM_024809.5(TCTN2):c.464-7T>A |
INTRON | |
881228 | Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 | 123,679,215(+) |
G/T NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) |
MISSENSE | |
881278 | Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 | 123,687,023(+) |
A/G NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) |
MISSENSE | |
881279 | Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 | 123,688,082(+) |
T/C NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1566n100 | CNV | gain | 25217958 |
dgv1567n100 | CNV | gain | 25217958 |
dgv1568n100 | CNV | loss | 25217958 |
dgv2926n54 | CNV | gain | 21841781 |
dgv309e214 | CNV | gain | 21293372 |
esv2759918 | CNV | gain | 17122850 |
esv35148 | CNV | gain | 17911159 |
nsv1051385 | CNV | gain | 25217958 |
nsv1052065 | CNV | gain+loss | 25217958 |
nsv442292 | CNV | gain | 18776908 |
nsv455733 | CNV | gain | 19166990 |
nsv519344 | CNV | gain | 19592680 |
nsv524660 | CNV | gain | 19592680 |
nsv832534 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
meckel syndrome, type 8 |
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joubert syndrome 24 |
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|
joubert syndrome 1 |
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|
meckel syndrome, type 6 |
|
|
meckel syndrome, type 1 |
|