SRGAP2C - SLIT-ROBO Rho GTPase activating protein 2C Gene

Also Known as SRGAP2P1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 653464

About SRGAP2C

Cytogenetic location: 1p11.2 Genomic coordinates (GRCh38): 1:121,184,975-121,392,874 (from NCBI)

This gene has 5 transcripts (splice variants), 218 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 12.8), spleen (RPKM 10.6) and 23 other tissues.

Summary

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

SRGAP2C Products (2)

mRNA	Protein	Name
NM_001271872.3	NP_001258801.1	SLIT-ROBO Rho GTPase-activating protein 2C isoform 2
NM_001329984.2	NP_001316913.1	SLIT-ROBO Rho GTPase-activating protein 2C isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	22559944	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	22559944	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cerebral cortex development	IDA IDA: Inferred from direct assay	27373832	GOA
involved in excitatory synapse assembly	IDA IDA: Inferred from direct assay	27373832	GOA
involved in extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration	IDA IDA: Inferred from direct assay	22559944	GOA
involved in inhibitory synapse assembly	IDA IDA: Inferred from direct assay	27373832	GOA
involved in negative regulation of dendritic spine development	IDA IDA: Inferred from direct assay	22559944	GOA
involved in negative regulation of filopodium assembly	IDA IDA: Inferred from direct assay	22559944	GOA
involved in positive regulation of neuron migration	IDA IDA: Inferred from direct assay	22559944	GOA
involved in regulation of synapse assembly	IDA IDA: Inferred from direct assay	22559944	GOA
involved in regulation of synapse assembly	IMP IMP: Inferred from mutant phenotype	22559944	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	22559944	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	22559944	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 2C	SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1

Related Diseases

Diseases	Alias
B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged	B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged B Lymphoblastic Leukemia/Lymphoma With T Mll Rearranged B-All Kmt2a Rearranged B-Lymphoblastic Leukemia/Lymphoma With T Kmt2a Rearranged
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
Chromosome 15q13.3 Deletion Syndrome	Chromosome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion Microdeletion 15q13.3 Syndrome Del(15)(Q13.3) Monosomy 15q13.3
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13764	SRGAP2C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRGAP2C	MGD	MGI:109605