UniProt ID |
Q96N96
|
Protein name |
Spermatogenesis-associated protein 13 (APC-stimulated guanine nucleotide exchange factor 2) (Asef2) |
Protein function |
Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00018
|
SH3_1 |
153 → 198 |
SH3 domain |
Domain |
PF00621
|
RhoGEF |
244 → 422 |
RhoGEF domain |
Domain |
PF00169
|
PH |
456 → 558 |
PH domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed at high levels in the placenta, spleen and kidney, at moderate levels in lung, small intestine, liver, brain and heart, and at low levels in skeletal muscle. Expression is aberrantly enhanced in most colorectal tumors. {ECO:0 |
Sequence |
|
Sequence length |
652 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autoimmune diseases |
Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
rs869025224 |
30595370 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
30595370, 27182965 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Angle closure glaucoma |
primary angle-closure glaucoma |
|
|
GenCC |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
|
|