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This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
RASSF8 (Ras Association Domain Family Member 8) is a Protein Coding gene. Diseases associated with RASSF8 include Synpolydactyly. An important paralog of this gene is RASSF7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0034334 | adherens junction maintenance | IEA | -- |
GO:0070507 | regulation of microtubule cytoskeleton organization | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g | · | 8h | · | 8i | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RASSF8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C12ORF2 31 |
|
OneToOne | |
RASSF8 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | RASSF8 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RASSF8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rassf8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rassf8 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RASSF8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RASSF8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RASSF8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rassf8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rassf8b 30 31 |
|
OneToMany | |
CABZ01003826.1 31 |
|
OneToMany | |||
RASSF8 (3 of 3) 31 |
|
OneToMany | |||
zgc64017 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001370 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | RASSF8 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | K05B2.2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117015558 | Likely Benign: not provided | 26,065,017(+) |
G/A NM_007211.5(RASSF8):c.623G>A (p.Arg208His) |
MISSENSE | |
rs145936448 | Likely Benign: not provided | 26,065,001(+) |
G/C NM_007211.5(RASSF8):c.607G>C (p.Glu203Gln) |
MISSENSE | |
rs76879660 | Benign: not provided | 26,065,230(+) |
G/A NM_007211.5(RASSF8):c.836G>A (p.Arg279Gln) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv784n106 | CNV | deletion | 24896259 |
esv1625213 | CNV | insertion | 17803354 |
esv26656 | CNV | gain+loss | 19812545 |
esv2759886 | CNV | loss | 17122850 |
nsv433521 | CNV | loss | 18776910 |
nsv517117 | CNV | loss | 19592680 |
nsv522351 | CNV | loss | 19592680 |
nsv557802 | CNV | gain | 21841781 |
nsv983482 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
synpolydactyly |
|
|