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

    Gene ID: 653464, updated on 3-May-2024

    Summary

    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

    See SRGAP2C in Genome Data Viewer
    Location:
    1p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (121184975..121392874)
    RS_2023_10 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

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC131678

    General protein information

    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_001271872.3NP_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:26288
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_001329984.2NP_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:26289
      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_2023_10

    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.