Seroatlas · Human Serome Atlas

RMI2

RecQ-mediated genome instability protein 2

Also known as: BLAP18, C16orf75, MGC24665, RMI2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96E14
Gene: RMI2
Ensembl: ENSG00000175643
Chromosome: 16
Canonical length: 147 aa
Protein class: Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear speckles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>Q96E14|RMI2
     1  MAAAADSFSG GPAGVRLPRS PPLKVLAEQL RRDAEGGPGA WRLSRAAAGR GPLDLAAVWM
    61  QGRVVMADRG EARLRDPSGD FSVRGLERVP RGRPCLVPGK YVMVMGVVQA CSPEPCLQAV
   121  KMTDLSDNPI HESMWELEVE DLHRNIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RMI2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

thymus: 34 nTPM
tonsil: 33 nTPM
lymph node: 29 nTPM
placenta: 18 nTPM
rectum: 13 nTPM
testis: 13 nTPM

Single-cell type

late spermatids: 280 nCPM
early spermatids: 181 nCPM
cytotrophoblasts: 151 nCPM
migrating cytotrophoblasts: 109 nCPM
early primary spermatocytes: 102 nCPM
undifferentiated spermatogonia: 79 nCPM

Immune cell

memory B-cell: 4.2 nTPM
T-reg: 1.4 nTPM
naive B-cell: 1.1 nTPM
naive CD4 T-cell: 0.8 nTPM
eosinophil: 0.4 nTPM
gdT-cell: 0.3 nTPM

Brain region

cerebral cortex: 3.7 nTPM
amygdala: 3.4 nTPM
basal ganglia: 3 nTPM
white matter: 2.4 nTPM
hippocampal formation: 1.9 nTPM
thalamus: 1.8 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.91
gnomAD pLI: 0.02
gnomAD missense Z: -0.62
DepMap mean gene effect: -0.27
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

DNA repair
DNA replication
double-strand break repair via homologous recombination
maintenance of rDNA
negative regulation of double-strand break repair via homologous recombination
resolution of DNA recombination intermediates
regulation of sister chromatid segregation

Molecular functions

DNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Nucleic acid-binding, OB-fold
RecQ-mediated genome instability protein 2
RecQ-mediated genome instability protein 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RMI2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RMI2 as an antibody target. Whether an autoantibody or antibody against RMI2 could matter depends on whether native RMI2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RMI2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RMI2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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