SRGAP2 - SLIT-ROBO Rho GTPase activating protein 2 Gene

Also Known as FNBP2; SRGAP3; SRGAP2A; ARHGAP34

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23380

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
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
Biological Process GO Annotation Evidence References 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 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
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

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
SLS
26365803
Intra
SRGAP2 O75044 SRGAP2 Homo sapiens O75044
GMS
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
SPR
26365803
Intra
SRGAP2 O75044 ROBO1 Homo sapiens Q9Y6N7
MST
26365803
Intra
SRGAP2 O75044 HTT Homo sapiens P42858
Y2H
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
Y2H
21148482
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others SRGAP2 NCBI