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  2. SRGAP2 - SLIT-ROBO Rho GTPase activating protein 2 Gene

SRGAP2 - SLIT-ROBO Rho GTPase activating protein 2 Gene

Homo sapiens

Also known as FNBP2; SRGAP3; SRGAP2A; ARHGAP34

Gene ID: 23380 | Gene type: protein coding

About SRGAP2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:206,203,541-206,464,436 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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
Biological Process GO Annotation Evidence Reference Source
involved in actin filament severing IDA
IDA: Inferred from direct assay
21148482 GOA
involved in dendritic spine development IDA
IDA: Inferred from direct assay
22559944 GOA
involved in excitatory synapse assembly IDA
IDA: Inferred from direct assay
27373832 GOA
involved in filopodium assembly IDA
IDA: Inferred from direct assay
22559944 GOA
involved in inhibitory synapse assembly IDA
IDA: Inferred from direct assay
27373832 GOA
involved in lamellipodium assembly involved in ameboidal cell migration IMP
IMP: Inferred from mutant phenotype
20810653 GOA
involved in negative regulation of neuron migration IDA
IDA: Inferred from direct assay
22559944 GOA
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
21148482 GOA
involved in positive regulation of GTPase activity IMP
IMP: Inferred from mutant phenotype
20810653 GOA
involved in substrate adhesion-dependent cell spreading IMP
IMP: Inferred from mutant phenotype
20810653 GOA
Cellular Component GO Annotation Evidence Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

SLIT-ROBO Rho GTPase-activating protein 2

SLIT-ROBO GAP2

Related Diseases

Diseases Alias
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Chromosome 3pter-P25 Deletion Syndrome

3p- Syndrome

3p Deletion Syndrome

Distal Monosomy 3p

Chromosome 3, Monosomy 3p

3p Partial Monosomy Syndrome

Chromosome 3, Deletion 3p

Chromosome 3p Deletion Syndrome

Del Syndrome

Deletion 3p

Monosomy 3p

Partial Monosomy 3p

Distal 3p Deletion

Monosomy 3pter

Telomeric Monosomy 3p

Chromosome Deletion Syndrome 3pter-P25

Lissencephaly 5

LIS5

Cobblestone Lissencephaly Without Muscular Or Ocular Involvement

Cobblestone Lissencephaly Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Eye Involvement

Lissencephaly Type 2 Without Muscular Or Ocular Involvement

Lissencephaly, Type 5

Avoidant Personality Disorder

Anxious Personality Disorder

Personality Disorders

Pilomyxoid Astrocytoma
Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene

Fibrillary Astrocytoma

Fibrillary Astrocytic Tumors

Diffuse Astrocytoma

Gemistocytic Astrocytoma

Protoplasmic Astrocytoma

Childhood Pilocytic Astrocytoma

Pediatric Pilocytic Astrocytoma

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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