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    SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 [ Homo sapiens (human) ]

    Gene ID: 140771, updated on 17-Sep-2024

    Summary

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    Official Symbol
    SMCR5provided by HGNC
    Official Full Name
    Smith-Magenis syndrome chromosome region, candidate 5provided by HGNC
    Primary source
    HGNC:HGNC:17918
    See related
    Ensembl:ENSG00000226746 AllianceGenome:HGNC:17918
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NCRNA00034
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    Genomic context

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    See SMCR5 in Genome Data Viewer
    Location:
    chromosome: 17
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17776686..17779529, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17723281..17726123, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17680000..17682843, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17602043-17602561 Neighboring gene retinoic acid induced 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17602562-17603079 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17603559-17604070 Neighboring gene Sharpr-MPRA regulatory region 3199 Neighboring gene Sharpr-MPRA regulatory region 10129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17620721-17621465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17628326-17629207 Neighboring gene Sharpr-MPRA regulatory region 1571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17643281-17643912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17646375-17646876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17655569-17656270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17665979-17666591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17666592-17667203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11810 Neighboring gene RAI1 antisense RNA 1 Neighboring gene uncharacterized LOC124903942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17682070-17682959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17683849-17684738 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17685874-17686374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17687340-17687880 Neighboring gene Sharpr-MPRA regulatory region 10806 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17693241-17693447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17696322-17697048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17697049-17697773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17704013-17704802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17704803-17705590 Neighboring gene Sharpr-MPRA regulatory region 10333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17716071-17716629 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene microRNA 6777 Neighboring gene microRNA 33b

    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. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W, et al. Genome Res, 2002 May. PMID 11997338, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Markers

    Homology

    Other Names

    • Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

    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_024007.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC122129
      Related
      ENST00000543475.1

    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
      17776686..17779529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17723281..17726123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144774.1: Suppressed sequence

      Description
      NM_144774.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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