SRGAP2 - SLIT-ROBO Rho GTPase activating protein 2 Gene
Also Known as FNBP2; SRGAP3; SRGAP2A; ARHGAP34
Species: Homo sapiens
About SRGAP2
This gene has 16 transcripts (splice variants), 221 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 12.4), spleen (RPKM 10.1) and 23 other tissues.
Summary
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]
SRGAP2 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001170637.4 | NP_001164108.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform c |
| NM_001300952.2 | NP_001287881.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform d |
| NM_001377444.1 | NP_001364373.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform e |
| NM_001377445.1 | NP_001364374.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform f |
| NM_001377446.1 | NP_001364375.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform g |
| NM_001377447.1 | NP_001364376.1 | SLIT-ROBO Rho GTPase-activating protein 2 isoform h |
| NM_015326.5 | NP_056141.2 | SLIT-ROBO Rho GTPase-activating protein 2 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
21148482 | GOA |
| enables GTPase activator activity |
IMP
IMP: Inferred from mutant phenotype
|
20810653 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
20810653 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15161933 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
20810653 | GOA |
| enables small GTPase binding |
IDA
IDA: Inferred from direct assay
|
20810653 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in dendritic spine head |
IDA
IDA: Inferred from direct assay
|
22559944 | GOA |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
20810653 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
21148482 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
SLIT-ROBO Rho GTPase-activating protein 2 |
|
SRGAP2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SRGAP2 | O75044 | SRGAP2 | Homo sapiens | O75044 | 20810653 | |
|
Intra
|
SRGAP2 | O75044 | SRGAP2 | Homo sapiens | O75044 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | SRGAP2 | Homo sapiens | O75044 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | YWHAG | Homo sapiens | P61981 | 15324660 | |
|
Intra
|
SRGAP2 | O75044 | SRGAP2 | Homo sapiens | O75044 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | SRGAP2 | Homo sapiens | O75044 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | YWHAZ | Homo sapiens | P63104 | 15161933 | |
|
Intra
|
SRGAP2 | O75044 | PRMT5 | Homo sapiens | O14744 | 20810653 | |
|
Intra
|
SRGAP2 | O75044 | PRMT5 | Homo sapiens | O14744 | 20810653 | |
|
Intra
|
SRGAP2 | O75044 | ROBO1 | Homo sapiens | Q9Y6N7 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | ROBO1 | Homo sapiens | Q9Y6N7 | 26365803 | |
|
Intra
|
SRGAP2 | O75044 | HTT | Homo sapiens | P42858 | 17500595 | |
|
Intra
|
SRGAP2 | O75044 | FASLG | Homo sapiens | P48023 | 19807924 | |
|
Intra
|
SRGAP2 | O75044 | FASLG | Homo sapiens | P48023 | 16318909 | |
|
Intra
|
SRGAP2 | O75044 | FMNL1 | Homo sapiens | O95466 | 21148482 | |
|
Intra
|
SRGAP2 | O75044 | FMNL1 | Homo sapiens | O95466 | 21148482 | |
|
Cross
|
SRGAP2 | O75044 | Fmnl3 | Mus musculus | Q6ZPF4 | 21148482 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
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| Early Infantile Epileptic Encephalopathy |
|
|
| Chromosome 3pter-P25 Deletion Syndrome |
|
|
| Lissencephaly 5 |
|
|
| Avoidant Personality Disorder |
|
|
| Pilomyxoid Astrocytoma |
|
|
| Retinitis Pigmentosa 23 |
|
|
| Fibrillary Astrocytoma |
|
|
| Childhood Pilocytic Astrocytoma |
|
|
| West Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SRGAP2 | VGNC | VGNC:107944 |
| Macaca mulatta | SRGAP2 | VGNC | VGNC:99699 |
| Rattus norvegicus | SRGAP2 | RGD | RGD:1566016 |
| Bos taurus | SRGAP2 | VGNC | VGNC:108505 |
| Mus musculus | SRGAP2 | MGD | MGI:109605 |
| Others | SRGAP2 | NCBI |