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TBC1D8 (TBC1 Domain Family Member 8) is a Protein Coding gene. Among its related pathways are Cell cycle. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D8B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0031267 | small GTPase binding | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | TAS | 10373574 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell cycle |
.58
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0008015 | blood circulation | TAS | 10373574 |
GO:0008284 | positive regulation of cell proliferation | TAS | 10373574 |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
GO:0090630 | activation of GTPase activity | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBC1D8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBC1D8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBC1D8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbc1d8 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TBC1D8 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbc1d8 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBC1D8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBC1D8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbc1d8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbc1d8 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3902 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34425369 | Benign: not provided | 101,040,286(-) |
C/T NM_001330348.1(TBC1D8):c.972G>A (p.Thr324=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs78556703 | Benign: not provided | 101,054,214(-) |
G/A NM_001330348.1(TBC1D8):c.525C>T (p.Val175=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs78831774 | Benign: not provided | 101,008,064(-) |
A/G NM_001330348.1(TBC1D8):c.3225T>C (p.Phe1075=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON | |
rs1057580 | - |
p.Phe1073Leu |
|||
rs1062062 | - |
p.Gly954Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2720446 | CNV | deletion | 23290073 |
esv34123 | CNV | loss | 18971310 |
esv3591762 | CNV | loss | 21293372 |
nsv1133480 | CNV | deletion | 24896259 |
nsv519123 | CNV | loss | 19592680 |
nsv834316 | CNV | gain | 17160897 |
nsv834317 | CNV | loss | 17160897 |
No disorders were found for TBC1D8 Gene.