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This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
GAS8 (Growth Arrest Specific 8) is a Protein Coding gene. Diseases associated with GAS8 include Ciliary Dyskinesia, Primary, 33 and Primary Ciliary Dyskinesia. Among its related pathways are Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005515 | protein binding | IPI | 21659505 |
GO:0008017 | microtubule binding | IEA,ISS | -- |
GO:0017137 | Rab GTPase binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | IBA,IDA | 10969087 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003351 | epithelial cilium movement | IEA | -- |
GO:0007368 | determination of left/right symmetry | IEA | -- |
GO:0007420 | brain development | IEA | -- |
GO:0008285 | negative regulation of cell proliferation | TAS | 9790751 |
GO:0030317 | flagellated sperm motility | IBA,ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GAS8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gas8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gas8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GAS8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GAS8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GAS8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GAS8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gas8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gas8 30 31 |
|
OneToOne | |
-- 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005850 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Gas8 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4120 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642378 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,036,560(+) | A/G | MISSENSE_VARIANT | |
645217 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,031,414(+) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
647067 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,036,381(+) | A/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
649697 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,040,327(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
650359 | Uncertain Significance: Ciliary dyskinesia, primary, 33 | 90,040,393(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3067n100 | CNV | gain | 25217958 |
esv2676928 | CNV | deletion | 23128226 |
esv2762221 | CNV | gain+loss | 21179565 |
esv3553923 | CNV | deletion | 23714750 |
esv3639603 | CNV | gain | 21293372 |
esv3639606 | CNV | gain | 21293372 |
esv3639607 | CNV | gain | 21293372 |
esv3639608 | CNV | loss | 21293372 |
nsv1062080 | CNV | loss | 25217958 |
nsv1064351 | CNV | gain+loss | 25217958 |
nsv1066499 | CNV | loss | 25217958 |
nsv1067164 | CNV | gain+loss | 25217958 |
nsv1070787 | CNV | deletion | 25765185 |
nsv1118586 | CNV | duplication | 24896259 |
nsv1933 | CNV | insertion | 18451855 |
nsv428331 | CNV | gain+loss | 18775914 |
nsv457626 | CNV | loss | 19166990 |
nsv471119 | CNV | loss | 18288195 |
nsv471120 | CNV | gain | 18288195 |
nsv472797 | CNV | novel sequence insertion | 20440878 |
nsv482951 | CNV | loss | 15286789 |
nsv509641 | CNV | insertion | 20534489 |
nsv573799 | CNV | gain | 21841781 |
nsv573810 | CNV | loss | 21841781 |
nsv573841 | CNV | loss | 21841781 |
nsv573842 | CNV | loss | 21841781 |
nsv952080 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 33 |
|
|
primary ciliary dyskinesia |
|
|
osteogenesis imperfecta, type xi |
|
|
rigid spine muscular dystrophy 1 |
|
|
visceral heterotaxy |
|
|