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

Gene ID: 140771, updated on 10-Oct-2023

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17776686..17779529, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17723281..17726123, complement)
105.20220307 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

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_2023_10

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

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