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

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: mouse all
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Genomic context

Location:: 16p13.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (11345459..11351760)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (11381793..11388092)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (11439316..11445617)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A combined bioinformatics and experimental approach identifies RMI2 as a Wnt/beta-catenin signaling target gene related to hepatocellular carcinoma.
Title: A combined bioinformatics and experimental approach identifies RMI2 as a Wnt/β-catenin signaling target gene related to hepatocellular carcinoma.
The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.
Title: The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.
RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
Title: RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
RMI2 is a prognostic biomarker and promotes tumor growth in hepatocellular carcinoma.
Title: RMI2 is a prognostic biomarker and promotes tumor growth in hepatocellular carcinoma.
The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops.
Title: The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops.
Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex.
Title: Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex.
RMI2 plays crucial roles in growth and metastasis of lung cancer.
Title: RMI2 plays crucial roles in growth and metastasis of lung cancer.
EPHX2 and RMI2 were noted as two novel key genes for cervical squamous cell carcinoma
Title: Identification of EPHX2 and RMI2 as two novel key genes in cervical squamous cell carcinoma by an integrated bioinformatic analysis.
In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.
Title: Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.
The results show that Topo IIIalpha stimulates DNA unwinding by BLM in a manner that is potentiated by RMI1-RMI2, and that the processivity of resection is reliant on the Topo IIIalpha-RMI1-RMI2 complex.
Title: Multifaceted role of the Topo IIIα-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

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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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

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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)

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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.

mRNA and Protein(s)

NM_152308.3 → NP_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:24 → 141

RMI2; RecQ-mediated genome instability protein 2

RNA

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