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

Homo sapiens

Also known as SRGAP2P1

Gene ID: 653464 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

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

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRGAP2C	MGD	MGI:109605

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