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 prote... See more...

Aliases for SRGAP2C Gene

Aliases for SRGAP2C Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2C 2 3 5
  • SLIT-ROBO Rho GTPase Activating Protein 2 Pseudogene 1 2 3 4
  • SLIT-ROBO Rho GTPase-Activating Protein 2C 3 4
  • SRGAP2P1 3 4
  • SRGAP2C 5

External Ids for SRGAP2C Gene

Previous HGNC Symbols for SRGAP2C Gene

  • SRGAP2P1

Previous GeneCards Identifiers for SRGAP2C Gene

  • GC01P121091

Summaries for SRGAP2C Gene

Entrez Gene Summary for SRGAP2C Gene

  • 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]

GeneCards Summary for SRGAP2C Gene

SRGAP2C (SLIT-ROBO Rho GTPase Activating Protein 2C) is a Protein Coding gene. Diseases associated with SRGAP2C include Gestational Trophoblastic Neoplasm and Koolen-De Vries Syndrome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is SRGAP2.

UniProtKB/Swiss-Prot Summary for SRGAP2C Gene

  • Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory.

Additional gene information for SRGAP2C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRGAP2C Gene

Genomics for SRGAP2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRGAP2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J121557 Enhancer 0.8 Ensembl ENCODE 4.8 +372.4 372390 4.4 ZNF512 PRDM1 HDAC1 NFE2 ZNF316 MAFG MAFK FEZF1 KDM1A BACH1 SRGAP2C MG828668-006 piR-38959-003 EMBP1 lnc-SRGAP2C-15 FAM72B
GH01J121201 Enhancer 0.7 Ensembl 0.4 +19.2 19190 15.6 ZNF629 ZNF692 PATZ1 ZNF501 ZNF600 ZNF792 ZNF639 ZNF10 ZXDB ZEB1 SRGAP2C FAM72B piR-38352-032
GH01J121183 Promoter 0.3 Ensembl 0.7 +2.3 2290 9.8 FAM72B SRGAP2C piR-38352-032
GH01J121181 Promoter 0.3 Ensembl 0.7 -2.9 -2910 0.2 FAM72B SRGAP2C RF00994-051 PPIAL4A
GH01J121268 Enhancer 0.8 ENCODE dbSUPER 0.2 +85.4 85392 0.2 PKNOX1 NFE2 HDAC2 ZNF316 MAFG EHMT2 ARNT DPF2 ATF3 MEIS2 piR-33422-021 piR-46016-001 FAM72B SRGAP2C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRGAP2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRGAP2C

Genomic Locations for SRGAP2C Gene

Genomic Locations for SRGAP2C Gene
chr1:121,184,811-121,392,874
(GRCh38/hg38)
Size:
208,064 bases
Orientation:
Plus strand
chr1:121,090,793-121,134,742
(GRCh37/hg19)
Size:
43,950 bases
Orientation:
Plus strand

Genomic View for SRGAP2C Gene

Genes around SRGAP2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2C Gene

Proteins for SRGAP2C Gene

  • Protein details for SRGAP2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DJJ0-SRG2C_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 2C
    Protein Accession:
    P0DJJ0

    Protein attributes for SRGAP2C Gene

    Size:
    459 amino acids
    Molecular mass:
    53484 Da
    Quaternary structure:
    • Homodimer. Interacts with SRGAP2; formation of the heterodimer alters SRGAP2 function.
    Miscellaneous:
    • This is one of the 3 duplications of the ancestral gene SRGAP2 which has undergone human-specific segmental gene duplications. The appearance of SRGAP2C in the human genome is estimated to 2,4 million years and corresponds to the beginning of neocortex expansion in human evolution. SRGAP2C may have, therefore, played an important role in this process. 2 other copies of SRGAP2, SRGAP2B and SRGAP2D, were identified in some individuals but it is not clear if they produce a functional protein (PubMed:22559944). SRGAP2C is the only copy to be fixed at a diploid state in the genome and to exhibit strong mRNA expression. A cDNA specific for that gene was used in the functional study (PubMed:22559944).

neXtProt entry for SRGAP2C Gene

Post-translational modifications for SRGAP2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRGAP2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRGAP2C Gene

Domains & Families for SRGAP2C Gene

Gene Families for SRGAP2C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SRGAP2C Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with SRGAP2C: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SRGAP2C Gene

Function for SRGAP2C Gene

Molecular function for SRGAP2C Gene

UniProtKB/Swiss-Prot Function:
Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory.

Phenotypes From GWAS Catalog for SRGAP2C Gene

Gene Ontology (GO) - Molecular Function for SRGAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IPI 22559944
GO:0046982 protein heterodimerization activity IPI 22559944
GO:0048365 Rac GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with SRGAP2C: view

Phenotypes for SRGAP2C Gene

GenomeRNAi human phenotypes for SRGAP2C:
genes like me logo Genes that share phenotypes with SRGAP2C: view

Animal Model Products

CRISPR Products

miRNA for SRGAP2C Gene

miRTarBase miRNAs that target SRGAP2C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRGAP2C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRGAP2C Gene

Localization for SRGAP2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRGAP2C gene
Compartment Confidence
plasma membrane 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SRGAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with SRGAP2C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SRGAP2C Gene

Pathways & Interactions for SRGAP2C Gene

PathCards logo

SuperPathways for SRGAP2C Gene

No Data Available

Gene Ontology (GO) - Biological Process for SRGAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0021816 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration IDA 22559944
GO:0030336 negative regulation of cell migration IBA 21873635
GO:0051490 negative regulation of filopodium assembly IDA 22559944
GO:0061000 negative regulation of dendritic spine development IDA 22559944
genes like me logo Genes that share ontologies with SRGAP2C: view

No data available for Pathways by source and SIGNOR curated interactions for SRGAP2C Gene

Drugs & Compounds for SRGAP2C Gene

No Compound Related Data Available

Transcripts for SRGAP2C Gene

mRNA/cDNA for SRGAP2C Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRGAP2C

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP2C Gene

No ASD Table

Relevant External Links for SRGAP2C Gene

GeneLoc Exon Structure for
SRGAP2C

Expression for SRGAP2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRGAP2C Gene

mRNA differential expression in normal tissues according to GTEx for SRGAP2C Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.7) and Brain - Cerebellum (x5.5).

Protein differential expression in normal tissues from HIPED for SRGAP2C Gene

This gene is overexpressed in Pancreas (57.0) and Breast (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SRGAP2C Gene



Protein tissue co-expression partners for SRGAP2C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRGAP2C

SOURCE GeneReport for Unigene cluster for SRGAP2C Gene:

Hs.523529

mRNA Expression by UniProt/SwissProt for SRGAP2C Gene:

P0DJJ0-SRG2C_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in cerebellum. Probably expressed in fetal and adult neurons (at protein level).
genes like me logo Genes that share expression patterns with SRGAP2C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRGAP2C Gene

Orthologs for SRGAP2C Gene

Evolution for SRGAP2C Gene

ENSEMBL:
Gene Tree for SRGAP2C (if available)
TreeFam:
Gene Tree for SRGAP2C (if available)

No data available for Orthologs for SRGAP2C Gene

Paralogs for SRGAP2C Gene

Paralogs for SRGAP2C Gene

(7) SIMAP similar genes for SRGAP2C Gene using alignment to 1 proteins:

  • SRG2C_HUMAN

Pseudogenes.org Pseudogenes for SRGAP2C Gene

genes like me logo Genes that share paralogs with SRGAP2C: view

Variants for SRGAP2C Gene

Additional dbSNP identifiers (rs#s) for SRGAP2C Gene

Structural Variations from Database of Genomic Variants (DGV) for SRGAP2C Gene

Variant ID Type Subtype PubMed ID
dgv156n106 CNV duplication 24896259
esv28381 CNV gain+loss 19812545
esv3587354 CNV loss 21293372
nsv1075372 CNV duplication 25765185
nsv1075373 CNV duplication 25765185
nsv10783 CNV loss 18304495
nsv1146068 CNV duplication 26484159
nsv471592 CNV loss 15918152
nsv506959 OTHER sequence alteration 20534489
nsv524681 CNV gain 19592680
nsv820880 CNV duplication 20802225
nsv824342 CNV gain 20364138
nsv831248 CNV loss 17160897
nsv946200 CNV duplication 23825009
nsv951414 CNV duplication 24416366

Additional Variant Information for SRGAP2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for SRGAP2C Gene

Disorders for SRGAP2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for SRGAP2C Gene - From: DISEASES

Disorder Aliases PubMed IDs
gestational trophoblastic neoplasm
  • hydatidiform mole, recurrent, 1
koolen-de vries syndrome
  • kdvs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SRGAP2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRGAP2C Gene

Publications for SRGAP2C Gene

  1. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (PMID: 22559943) Dennis MY … Eichler EE (Cell 2012) 2 3 4
  2. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PMID: 22559944) Charrier C … Polleux F (Cell 2012) 2 3 4
  3. SRGAP2 and Its Human-Specific Paralog Co-Regulate the Development of Excitatory and Inhibitory Synapses. (PMID: 27373832) Fossati M … Charrier C (Neuron 2016) 3
  4. All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci. (PMID: 26206078) Kutzner A … Heese K (Genomics 2015) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for SRGAP2C Gene

Sources for SRGAP2C Gene