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

Gene ID: 653464, updated on 10-Oct-2023

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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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)

Genotypes

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 

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_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DJJ0.1 GenPept UniProtKB/Swiss-Prot:P0DJJ0

Gene LinkOut

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