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    SH3GL1P2 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2 [ Homo sapiens (human) ]

    Gene ID: 6459, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SH3GL1P2provided by HGNC
    Official Full Name
    SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2provided by HGNC
    Primary source
    HGNC:HGNC:10836
    See related
    AllianceGenome:HGNC:10836
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNSA-P2; SH3GLP2
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    Genomic context

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    See SH3GL1P2 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30624318..30626823)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28951336..28953841)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMURF2P1-LRRC37BP1 readthrough transcribed pseudogene Neighboring gene uncharacterized LOC124903978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8398 Neighboring gene SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1 Neighboring gene NF1-REPa UWA160-1 recombination region Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene leucine rich repeat containing 37B pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 474 Neighboring gene NF1-REPa PRS1 recombination region Neighboring gene uncharacterized LOC105371723 Neighboring gene NF1-REPa PRS2 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28993682-28994231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994232-28994780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994781-28995330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29026421-29027394 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:29027395-29028368 Neighboring gene RNA, 7SL, cytoplasmic 316, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel SH3-containing human gene family preferentially expressed in the central nervous system. Giachino C, et al. Genomics, 1997 May 1. PMID 9169142
    2. RNF135 mutations are not present in patients with Sotos syndrome-like features. Visser R, et al. Am J Med Genet A, 2009 Feb 15. PMID 19291764
    3. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: RNF135 mutations are not present in patients with Sotos syndrome-like features.
    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 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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    Other Names

    • SH3 domain containing GRB2 like 1 pseudogene 2
    • SH3-domain GRB2-like 1 pseudogene 2
    • SH3-domain GRB2-like pseudogene 2

    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.

    RNA

    1. NR_033420.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005562

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30624318..30626823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005642.2: Suppressed sequence

      Description
      NG_005642.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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