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

Gene ID: 116028, updated on 1-Jun-2020

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
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

Genomic context

See RMI2 in Genome Data Viewer
Location:
16p13.13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (11345438..11351763)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11439311..11445617)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371082 Neighboring gene Sharpr-MPRA regulatory region 10157 Neighboring gene uncharacterized LOC105371083 Neighboring gene mitochondrial ribosomal protein L18 pseudogene Neighboring gene putative uncharacterized protein LOC400499 Neighboring gene uncharacterized LOC101927131

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC24665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
maintenance of rDNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
regulation of sister chromatid segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of sister chromatid segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

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)

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
    Q96E14
    Related
    ENSP00000310356.5, ENST00000312499.6
    Conserved Domains (1) summary
    pfam16100
    Location:22141
    RMI2; RecQ-mediated genome instability protein 2

RNA

  1. NR_130754.1 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)
    AC009121, AK123764, BC039361, CN311350

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    11345438..11351763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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