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    SRGAP2C SLIT-ROBO Rho GTPase activating protein 2C [ Homo sapiens (human) ]

    Gene ID: 653464, updated on 27-Aug-2024

    Summary

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    Official Symbol
    SRGAP2Cprovided by HGNC
    Official Full Name
    SLIT-ROBO Rho GTPase activating protein 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:30584
    See related
    Ensembl:ENSG00000171943 MIM:614704; AllianceGenome:HGNC:30584
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SRGAP2P1
    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]
    Expression
    Ubiquitous expression in skin (RPKM 12.8), spleen (RPKM 10.6) and 23 other tissues See more
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    Genomic context

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    Location:
    1p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (121184975..121392874)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (121194339..121402237)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (121107154..121134735)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 3361 Neighboring gene family with sequence similarity 72 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120787669-120788442 Neighboring gene NANOG hESC enhancer GRCh37_chr1:120765266-120765827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1606 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 1 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 1 Neighboring gene uncharacterized LOC107985193 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:121103636-121104481 Neighboring gene SRGAP2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:121143016-121143604 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:121143605-121144193 Neighboring gene long intergenic non-protein coding RNA 2798 Neighboring gene NANOG hESC enhancer GRCh37_chr1:121161647-121162148 Neighboring gene mitochondrial translational initiation factor 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A human-specific modifier of cortical connectivity and circuit function. Schmidt ERE, et al. Nature, 2021 Nov. PMID 34707291, Free PMC Article
    2. SRGAP2 and Its Human-Specific Paralog Co-Regulate the Development of Excitatory and Inhibitory Synapses. Fossati M, et al. Neuron, 2016 Jul 20. PMID 27373832, Free PMC Article
    3. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Dennis MY, et al. Cell, 2012 May 11. PMID 22559943, Free PMC Article
    4. All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci. Kutzner A, et al. Genomics, 2015 Nov. PMID 26206078
    5. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. Charrier C, et al. Cell, 2012 May 11. PMID 22559944, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A human-specific modifier of cortical connectivity and circuit function.
      Title: A human-specific modifier of cortical connectivity and circuit function.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131678

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in excitatory synapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inhibitory synapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of dendritic spine development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of filopodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SLIT-ROBO Rho GTPase-activating protein 2C
    Names
    SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271872.3 → NP_001258801.1  SLIT-ROBO Rho GTPase-activating protein 2C isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC244021, AC244453, BC112927
      Conserved Domains (1) summary
      cl12013
      Location:26 → 288
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_001329984.2 → NP_001316913.1  SLIT-ROBO Rho GTPase-activating protein 2C isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC243994, AC244021, AC244453
      Consensus CDS
      CCDS81364.1
      UniProtKB/Swiss-Prot
      P0DJJ0
      Related
      ENSP00000478290.1, ENST00000367123.8
      Conserved Domains (1) summary
      cl12013
      Location:26 → 289
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      121184975..121392874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      121194339..121402237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006429.1: Suppressed sequence

      Description
      NG_006429.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DJJ0.1 GenPept UniProtKB/Swiss-Prot:P0DJJ0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials