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    RMI2 RecQ mediated genome instability 2 [ Homo sapiens (human) ]

    Gene ID: 116028, updated on 9-Dec-2024

    Summary

    Official Symbol
    RMI2provided by HGNC
    Official Full Name
    RecQ mediated genome instability 2provided by HGNC
    Primary source
    HGNC:HGNC:28349
    See related
    Ensembl:ENSG00000175643 MIM:612426; AllianceGenome:HGNC:28349
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BLAP18; C16orf75
    Summary
    RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]
    Expression
    Broad expression in lymph node (RPKM 13.6), placenta (RPKM 10.2) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RMI2 in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11345459..11351760)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (11381793..11388092)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11439316..11445617)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371082 Neighboring gene Sharpr-MPRA regulatory region 10157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11408487-11409184 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11409185-11409882 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11409883-11410580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11414774-11415369 Neighboring gene microRNA 548h-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10437 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:11422541-11423320 Neighboring gene uncharacterized LOC105371083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:11448108-11448960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11464582-11465082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10441 Neighboring gene mitochondrial ribosomal protein L18 pseudogene Neighboring gene putative uncharacterized protein LOC400499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11480804-11481686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11483724-11484478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11507777-11508748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11550335-11550854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:11550855-11551372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10445 Neighboring gene uncharacterized LOC101927131 Neighboring gene uncharacterized LOC124903807

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC24665

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of rDNA IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of sister chromatid segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in resolution of DNA recombination intermediates IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RecQ family helicase-topoisomerase III complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    recQ-mediated genome instability protein 2
    Names
    BLM-associated protein of 18 kDa
    RMI2, RecQ mediated genome instability 2, homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_152308.3NP_689521.1  recQ-mediated genome instability protein 2

      See identical proteins and their annotated locations for NP_689521.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AK123764, BC022427, BC039361
      Consensus CDS
      CCDS10548.1
      UniProtKB/Swiss-Prot
      B3KVZ6, Q49AE2, Q8TBL0, Q96E14
      Related
      ENSP00000310356.5, ENST00000312499.6
      Conserved Domains (1) summary
      pfam16100
      Location:24141
      RMI2; RecQ-mediated genome instability protein 2

    RNA

    1. NR_130754.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AK123764, BC039361, CN311350

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      11345459..11351760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      11381793..11388092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)