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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
  • SRGAP2P1 3 4

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. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is SRGAP3.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP2C Gene

Genomics for SRGAP2C Gene

Regulatory Elements for SRGAP2C Gene

Enhancers for SRGAP2C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SRGAP2C on UCSC Golden Path with GeneCards custom track

Promoters for SRGAP2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SRGAP2C on UCSC Golden Path with GeneCards custom track

Genomic Location for SRGAP2C Gene

Chromosome:
1
Start:
121,184,810 bp from pter
End:
121,392,824 bp from pter
Size:
208,015 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

Proteomics data for SRGAP2C Gene at MOPED

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

Protein Domains for SRGAP2C Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0DJJ0

UniProtKB/Swiss-Prot:

SRG2C_HUMAN :
  • Contains 1 F-BAR domain.
Domain:
  • Contains 1 F-BAR domain.
genes like me logo Genes that share domains with SRGAP2C: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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.

Gene Ontology (GO) - Molecular Function for SRGAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048365 Rac GTPase binding IBA --
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

miRNA for SRGAP2C Gene

miRTarBase miRNAs that target 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SRGAP2C Gene

Pathways & Interactions for SRGAP2C Gene

SuperPathways for SRGAP2C Gene

No Data Available

Interacting Proteins for SRGAP2C Gene

Gene Ontology (GO) - Biological Process for SRGAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0043547 positive regulation of GTPase activity IBA --
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

(6) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SRGAP2C Gene

SLIT-ROBO Rho GTPase activating protein 2C:
Representative Sequences:

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

No ASD Table

Relevant External Links for SRGAP2C Gene

GeneLoc Exon Structure for
SRGAP2C
ECgene alternative splicing isoforms for
SRGAP2C

Expression for SRGAP2C Gene

mRNA expression in normal human tissues 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



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

Protein tissue co-expression partners for SRGAP2C Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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

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

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

Variants for SRGAP2C Gene

Sequence variations from dbSNP and Humsavar for SRGAP2C Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs476561 -- 121,322,893(-) TACAA(A/G)GAAAG intron-variant
rs545109 -- 121,254,016(-) agaat(C/T)gcttg intron-variant
rs547498 -- 121,263,665(+) AGCCT(A/G)GAACC intron-variant
rs503603 -- 121,333,954(+) ATGAT(G/T)ATGAT intron-variant
rs506108 -- 121,199,663(+) caggc(A/G)cctgc intron-variant

Relevant External Links for SRGAP2C Gene

HapMap Linkage Disequilibrium report
SRGAP2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for SRGAP2C Gene

Disorders for SRGAP2C Gene

Relevant External Links for SRGAP2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRGAP2C

No disorders were found for SRGAP2C Gene.

No data available for MalaCards , 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 M.Y. … Eichler E.E. (Cell 2012) 2 3 4 67
  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
  3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel D.P. … Karasik D. (BMC Med. Genet. 2007) 3
  4. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A. … Sikela J.M. (PLoS Biol. 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for SRGAP2C Gene

Sources for SRGAP2C Gene

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