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This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
EPS8 (Epidermal Growth Factor Receptor Pathway Substrate 8) is a Protein Coding gene. Diseases associated with EPS8 include Deafness, Autosomal Recessive 102 and Branchiootic Syndrome 1. Among its related pathways are G-protein signaling RAC1 in cellular process and Development ERBB-family signaling. Gene Ontology (GO) annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is EPS8L2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA,ISS | -- |
GO:0005085 | guanyl-nucleotide exchange factor activity | IBA | -- |
GO:0005515 | protein binding | IEA,IPI | 15289329 |
GO:0031267 | small GTPase binding | ISS | -- |
GO:0035591 | signaling adaptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0005903 | brush border | IEA | -- |
GO:0005938 | cell cortex | ISS | -- |
GO:0014069 | postsynaptic density | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tyrosine Kinases / Adaptors | ||
2 | Development ERBB-family signaling |
EGF Pathway
.41
|
|
3 | Development EGFR signaling via small GTPases |
Development EGFR signaling via small GTPases
.40
|
|
4 | Development FGFR signaling pathway |
Development FGFR signaling pathway
.49
|
|
5 | G-protein signaling RAC1 in cellular process |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007266 | Rho protein signal transduction | IBA | 21873635 |
GO:0008344 | adult locomotory behavior | IEA | -- |
GO:0008360 | regulation of cell shape | ISS | -- |
GO:0010458 | exit from mitosis | ISS | -- |
GO:0016601 | Rac protein signal transduction | ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 19 | ^ | 20a | · | 20b | ^ | 21 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPS8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPS8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPS8 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPS8 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eps8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eps8 30 |
|
||
Chicken (Gallus gallus) |
Aves | EPS8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPS8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eps8 30 |
|
||
Str.19077 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11312 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eps8 30 31 |
|
OneToOne | |
zgc56041 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8907 31 |
|
ManyToMany | |
aru 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | eps-8 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
929875 | Likely Benign: not specified | 15,666,514(-) |
T/C NM_004447.6(EPS8):c.525A>G (p.Leu175=) |
SYNONYMOUS | |
rs111934716 | Benign: not specified; not provided | 15,624,353(-) |
A/G NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr) |
MISSENSE | |
rs1126786 | Benign: not specified; not provided | 15,623,161(-) |
C/T NM_004447.6(EPS8):c.2352G>A (p.Leu784=) |
SYNONYMOUS | |
rs138518548 | Likely Benign: not specified | 15,660,726(-) |
G/A NM_004447.6(EPS8):c.825C>T (p.His275=) |
SYNONYMOUS | |
rs139258361 | Conflicting Interpretations: Deafness; not specified; not provided | 15,650,927(-) |
A/G NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2135886 | CNV | deletion | 18987734 |
esv2663867 | CNV | deletion | 23128226 |
esv2760899 | CNV | gain | 21179565 |
esv3580159 | CNV | loss | 25503493 |
esv3628677 | CNV | loss | 21293372 |
nsv1045663 | CNV | loss | 25217958 |
nsv1138109 | CNV | deletion | 24896259 |
nsv557615 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 102 |
|
|
branchiootic syndrome 1 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
deafness, autosomal recessive 106 |
|
|
autosomal recessive nonsyndromic deafness 3 |
|
|