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

Gene ID: 653464, updated on 25-Jan-2022

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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (121184975..121392874)
105.20201022 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 Sharpr-MPRA regulatory region 15698 duplicate 1 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 1 Neighboring gene uncharacterized LOC107985193 Neighboring gene SRGAP2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13946 Neighboring gene glycine-rich cell wall structural protein 1.0-like

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

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    121184975..121392874
    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.
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