| Type | Description |
|---|---|
| Definition | Cdc42 guanine nucleotide exchange factor 9 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:00:00 | Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. | 31942680 |
| 2020-08-29 12:47:00 | Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma. | 31283007 |
| 2019-10-05 12:24:00 | Study identified a novel mutation in ARHGEF9, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy. Further analysis revealed that all ARHGEF9 mutations were associated with intellectual disability. | 29130122 |
| 2017-02-04 10:11:00 | Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene. | 27238888 |
| 2016-09-24 10:41:00 | Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism. | 25898924 |
| Type | IDs |
|---|---|
| Synonymous | COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2 |
| Gene |
UniProtKB-ID:
ARHG9_HUMAN,
B1AMR3_HUMAN
UniprotKB:
O43307,
B1AMR3
UniParc:
UPI0000212277,
UPI0000212281,
UPI0001CA7E60,
UPI000006F940
EMBL:
AK289993,
BC056892,
AL451106,
AB007884,
AK295033,
AK295178,
AL355142,
BC117406,
AL391277
Ensembl:
ENSG00000131089
KO:
hsa:23229
|
| Nucleutide sequences |
EMBL-CDS:
BAA24854.2,
BAG58088.1,
AAI17407.1,
BAF82682.1,
BAG58186.1
Ensembl_TRS:
ENST00000671907,
ENST00000624843,
ENST00000253401,
ENST00000623517,
ENST00000624538,
ENST00000624210,
ENST00000637178,
ENST00000635967,
ENST00000637723,
ENST00000374872,
ENST00000636048,
ENST00000637417,
ENST00000637520,
ENST00000637557,
ENST00000636392
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000485369,
ENSP00000485626,
ENSP00000500829,
ENSP00000253401,
ENSP00000490123,
ENSP00000489637,
ENSP00000485144,
ENSP00000489862,
ENSP00000490691,
ENSP00000490269,
ENSP00000485282,
ENSP00000490679,
ENSP00000489853,
ENSP00000490063,
ENSP00000364006
RefSeq:
NP_001355967.1,
NP_001340850.1,
XP_024308125.1,
XP_016884863.1,
NP_056000.1,
NP_001355973.1,
NP_001166951.1,
NP_001317424.1,
NP_001340857.1,
XP_016884866.1,
NP_001355963.1,
NP_001340851.1,
NP_001355971.1,
NP_001355974.1,
NP_001340856.1,
NP_001355964.1,
NP_001355965.1,
NP_001340853.1,
XP_024308124.1,
NP_001355969.1,
XP_016884853.1,
NP_001340852.1,
NP_001355962.1,
NP_001355960.1,
NP_001340855.1,
NP_001355972.1,
NP_001355959.1,
XP_016884869.1,
NP_001355966.1,
NP_001355968.1,
NP_001166950.1,
NP_001355970.1,
NP_001355961.1,
XP_016884867.1
|
| Others |
UniRef100:
UniRef100_O43307,
UniRef100_B1AMR3
UniRef90:
UniRef90_O43307
UniRef50:
UniRef50_O43307
UniGene:
Hs.54697
CCDS:
CCDS35315.1,
CCDS55429.1,
CCDS55430.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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