RMI2

Summary

RMI2 (RecQ mediated genome instability 2, HGNC:28349) is a protein-coding gene on chromosome 16p13.13, encoding RecQ-mediated genome instability protein 2 (Q96E14). Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is a selective cancer dependency (DepMap: 11.7% of cell lines).

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]).

Source: NCBI Gene 116028 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bloom syndrome (Moderate, GenCC)
• GWAS associations: 26
• Clinical variants (ClinVar): 30 total
• Cancer dependency (DepMap): dependent in 11.7% of screened cell lines
• MANE Select transcript: NM_152308

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28349
Approved symbol	RMI2
Name	RecQ mediated genome instability 2
Location	16p13.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC24665, BLAP18
Ensembl gene	ENSG00000175643
Ensembl biotype	protein_coding
OMIM	612426
Entrez	116028

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000312499, ENST00000572173, ENST00000572992, ENST00000573910, ENST00000576027, ENST00000648619, ENST00000649869

RefSeq mRNA: 1 — MANE Select: NM_152308 NM_152308

CCDS: CCDS10548

Canonical transcript exons

ENST00000312499 — 2 exons

Exon	Start	End
ENSE00001203444	11350642	11351760
ENSE00001225616	11345459	11345766

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 93.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0278 / max 78.0778, expressed in 1380 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152772	6.4269	1329
152770	0.3581	209
152771	0.2092	107
152752	0.0171	4
152751	0.0166	5

Top tissues by expression

245 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	93.51	gold quality
ileal mucosa	UBERON:0000331	93.42	silver quality
ganglionic eminence	UBERON:0004023	92.59	gold quality
secondary oocyte	CL:0000655	92.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.96	gold quality
mucosa of transverse colon	UBERON:0004991	87.40	gold quality
placenta	UBERON:0001987	85.47	gold quality
rectum	UBERON:0001052	85.30	gold quality
tibialis anterior	UBERON:0001385	84.66	silver quality
right testis	UBERON:0004534	84.59	gold quality
oocyte	CL:0000023	83.68	gold quality
left testis	UBERON:0004533	83.64	gold quality
testis	UBERON:0000473	83.52	gold quality
lymph node	UBERON:0000029	83.19	gold quality
vermiform appendix	UBERON:0001154	82.80	gold quality
esophagus squamous epithelium	UBERON:0006920	81.73	gold quality
trabecular bone tissue	UBERON:0002483	81.47	gold quality
gingival epithelium	UBERON:0001949	81.18	silver quality
lower esophagus mucosa	UBERON:0035834	80.29	gold quality
stromal cell of endometrium	CL:0002255	80.26	gold quality
esophagus mucosa	UBERON:0002469	80.14	gold quality
adrenal tissue	UBERON:0018303	79.19	gold quality
caecum	UBERON:0001153	78.61	gold quality
bone marrow	UBERON:0002371	78.32	gold quality
upper arm skin	UBERON:0004263	77.77	silver quality
colonic mucosa	UBERON:0000317	77.40	gold quality
skin of leg	UBERON:0001511	77.32	gold quality
gingiva	UBERON:0001828	77.16	silver quality
skin of abdomen	UBERON:0001416	77.11	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	62.36
E-ANND-3	yes	4.41
E-GEOD-99795	no	70.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting RMI2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6124	99.87	69.78	3551

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• Crystal structures of RMI1 and RMI2, two OB-fold regulatory subunits of the BLM complex (PMID:20826342)
• two proteins that interact with BLM, RMI1 and RMI2, are phosphorylated upon SAC activation, and, like BLM, RMI1, and RMI2, are phosphorylated in an MPS1-dependent manner. (PMID:24108125)
• 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. (PMID:25200081)
• 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. (PMID:27977684)
• EPHX2 and RMI2 were noted as two novel key genes for cervical squamous cell carcinoma (PMID:31041817)
• RMI2 plays crucial roles in growth and metastasis of lung cancer. (PMID:32883952)
• RMI2 is a prognostic biomarker and promotes tumor growth in hepatocellular carcinoma. (PMID:34275027)
• Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex. (PMID:35102151)
• The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom’s syndrome helicase for efficient disruption of D-loops. (PMID:35115525)
• RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers. (PMID:35552266)
• The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins. (PMID:36529288)
• A combined bioinformatics and experimental approach identifies RMI2 as a Wnt/beta-catenin signaling target gene related to hepatocellular carcinoma. (PMID:37875822)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rmi2	ENSDARG00000103137
mus_musculus	Rmi2	ENSMUSG00000037991
rattus_norvegicus	Rmi2	ENSRNOG00000065770

Protein

Protein identifiers

RecQ-mediated genome instability protein 2 — Q96E14 (reviewed: Q96E14)

Alternative names: BLM-associated protein of 18 kDa

All UniProt accessions (3): Q96E14, A0A3B3ISX4, I3L2E0

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM.

Subunit / interactions. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylated during mitosis.

Disease relevance. A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks.

Similarity. Belongs to the RMI2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96E14-1	1	yes
Q96E14-2	2

RefSeq proteins (1): NP_689521* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR032245	RMI2	Family

Pfam: PF16100

UniProt features (25 total): strand 9, mutagenesis site 5, helix 3, modified residue 2, initiator methionine 1, chain 1, turn 1, DNA-binding region 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3MXN	X-RAY DIFFRACTION	1.55
3NBH	X-RAY DIFFRACTION	2
9PFD	X-RAY DIFFRACTION	2.01
9DHK	X-RAY DIFFRACTION	2.35
9DI4	X-RAY DIFFRACTION	2.7
4DAY	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96E14-F1	89.80	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 7

Mutagenesis-validated functional residues (5):

Position	Phenotype
121	according to pubmed:18923083, does not affect interaction with rmi1, top3a and blm. according to pubmed:18923082, affect
135	abolishes interaction with rmi1, top3a and blm.
24	abolishes interaction with rmi1, top3a and blm.
59	according to pubmed:18923083, abolishes interaction with rmi1, top3a and blm. according to pubmed:18923082, does not aff
100	does not affect interaction with rmi1, top3a and blm.

Function

Pathways and Gene Ontology

Reactome pathways

32 pathways

ID	Pathway
R-HSA-5685938	HDR through Single Strand Annealing (SSA)
R-HSA-5685942	HDR through Homologous Recombination (HRR)
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange
R-HSA-5693607	Processing of DNA double-strand break ends
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-69473	G2/M DNA damage checkpoint
R-HSA-9701192	Defective homologous recombination repair (HRR) due to BRCA1 loss of function
R-HSA-9704331	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
R-HSA-9709570	Impaired BRCA2 binding to RAD51
R-HSA-9709603	Impaired BRCA2 binding to PALB2
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5693532	DNA Double-Strand Break Repair
R-HSA-5693537	Resolution of D-Loop Structures
R-HSA-5693538	Homology Directed Repair
R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
R-HSA-69481	G2/M Checkpoints
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-73894	DNA Repair
R-HSA-74160	Gene expression (Transcription)
R-HSA-9675135	Diseases of DNA repair
R-HSA-9675136	Diseases of DNA Double-Strand Break Repair

MSigDB gene sets: 169 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, E2F_Q4, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, E2F4DP1_01, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_DNA_REPAIR, E2F1DP1_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MCAATNNNNNGCG_UNKNOWN, E2F1DP2_01

GO Biological Process (7): double-strand break repair via homologous recombination (GO:0000724), DNA replication (GO:0006260), DNA repair (GO:0006281), regulation of sister chromatid segregation (GO:0033045), maintenance of rDNA (GO:0043007), resolution of DNA recombination intermediates (GO:0071139), negative regulation of double-strand break repair via homologous recombination (GO:2000042)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear speck (GO:0016607), RecQ family helicase-topoisomerase III complex (GO:0031422)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	3
Resolution of D-Loop Structures	2
Defective homologous recombination repair (HRR) due to PALB2 loss of function	2
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	2
HDR through Homologous Recombination (HRR)	1
Homologous DNA Pairing and Strand Exchange	1
Regulation of TP53 Activity	1
G2/M Checkpoints	1
Diseases of DNA Double-Strand Break Repair	1
RNA Polymerase II Transcription	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
DNA Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	3
cellular anatomical structure	2
recombinational repair	1
double-strand break repair	1
DNA biosynthetic process	1
DNA damage response	1
sister chromatid segregation	1
regulation of chromosome organization	1
regulation of chromosome segregation	1
maintenance of DNA repeat elements	1
DNA recombination	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
negative regulation of DNA recombination	1
negative regulation of double-strand break repair	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
chromosome	1
DNA helicase complex	1

Protein interactions and networks

STRING

1163 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RMI2	TOP3A	Q13472	999
RMI2	RMI1	Q9H9A7	999
RMI2	BLM	P54132	881
RMI2	WRN	Q14191	780
RMI2	RECQL	P46063	780
RMI2	GEN1	Q17RS7	762
RMI2	MUS81	Q96NY9	704
RMI2	FANCM	Q8IYD8	700
RMI2	SLX4	Q8IY92	680
RMI2	DEXI	O95424	674
RMI2	DNA2	P51530	659
RMI2	SLX1A	Q9BQ83	643
RMI2	FAAP24	Q9BTP7	637
RMI2	EXO1	Q9UQ84	602
RMI2	RECQL5	O94762	601

IntAct

22 interactions, top by confidence:

A	B	Type	Score
RMI1	BLM	psi-mi:“MI:0914”(association)	0.930
BLM	TOP3A	psi-mi:“MI:0914”(association)	0.890
BLM	TOP3A	psi-mi:“MI:0403”(colocalization)	0.890
RMI2	BLM	psi-mi:“MI:0914”(association)	0.830
RMI2	RMI1	psi-mi:“MI:2364”(proximity)	0.760
RMI2	RMI1	psi-mi:“MI:0915”(physical association)	0.760
RIF1	BLM	psi-mi:“MI:0914”(association)	0.740
SPIDR	BLM	psi-mi:“MI:0914”(association)	0.660
RIF1	RPA2	psi-mi:“MI:0914”(association)	0.550
Top3a		psi-mi:“MI:0915”(physical association)	0.400
Rmi1		psi-mi:“MI:0915”(physical association)	0.400
Ercc6l		psi-mi:“MI:0915”(physical association)	0.400
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
	PMPCB	psi-mi:“MI:0914”(association)	0.350
BLM	FANCA	psi-mi:“MI:0914”(association)	0.350
SPIDR	FANCA	psi-mi:“MI:0914”(association)	0.350
CCDC69	PMPCB	psi-mi:“MI:0914”(association)	0.350
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (45): RMI2 (Reconstituted Complex), RMI2 (Affinity Capture-MS), RMI2 (Affinity Capture-MS), TOP3A (Affinity Capture-MS), RMI1 (Affinity Capture-MS), BLM (Affinity Capture-MS), RMI1 (Affinity Capture-MS), TOP3A (Affinity Capture-MS), BLM (Affinity Capture-MS), RMI2 (Affinity Capture-MS), RMI2 (Reconstituted Complex), RMI2 (Affinity Capture-Western), RMI2 (Affinity Capture-MS), RMI2 (Affinity Capture-Western), RMI2 (Affinity Capture-Western)

ESM2 similar proteins: A5PJU7, A8MQ27, F1MLB4, F1MX48, F1SAM7, I3L5V6, O75425, O95382, P36916, Q08DG4, Q0MW30, Q14451, Q2YD98, Q32P44, Q3MIP1, Q3T033, Q3UPE3, Q3UV16, Q505F5, Q5EBM0, Q5U651, Q5ZM20, Q641Q3, Q6MG06, Q6SZW1, Q6ZTW0, Q7T0L4, Q8BGG6, Q8BH83, Q8C0R7, Q8K0Y7, Q8N9W5, Q8R2K4, Q8TE68, Q8VC03, Q96BM1, Q96E14, Q96EF6, Q96EY9, Q99JB7

Diamond homologs: A5PJU7, Q3UPE3, Q5ZM20, Q96E14

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 16 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Impaired BRCA2 binding to RAD51	5	154.3×	3e-09
Resolution of D-loop Structures through Holliday Junction Intermediates	5	150.3×	3e-09
HDR through Single Strand Annealing (SSA)	5	146.4×	3e-09
Presynaptic phase of homologous DNA pairing and strand exchange	5	135.9×	3e-09
HDR through Homologous Recombination (HRR)	6	114.2×	4e-10
G2/M DNA damage checkpoint	5	60.1×	8e-08
Regulation of TP53 Activity through Phosphorylation	5	58.9×	8e-08
Processing of DNA double-strand break ends	5	57.1×	9e-08

GO biological processes:

GO term	Partners	Fold	FDR
double-strand break repair via homologous recombination	6	72.0×	1e-08
DNA repair	5	24.6×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

30 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1014 predictions. Top by Δscore:

Variant	Effect	Δscore
16:11281122:CTTA:C	donor_gain	1.0000
16:11281123:TTA:T	donor_loss	1.0000
16:11281124:TA:T	donor_loss	1.0000
16:11281125:A:AC	donor_gain	1.0000
16:11281125:A:C	donor_loss	1.0000
16:11281125:ACT:A	donor_gain	1.0000
16:11281126:C:CT	donor_gain	1.0000
16:11281126:CT:C	donor_gain	1.0000
16:11281126:CTC:C	donor_gain	1.0000
16:11281126:CTCA:C	donor_gain	1.0000
16:11281126:CTCAT:C	donor_gain	1.0000
16:11281136:T:A	donor_gain	1.0000
16:11281139:T:TA	donor_gain	1.0000
16:11345762:CCCAG:C	donor_loss	1.0000
16:11345763:CCAG:C	donor_loss	1.0000
16:11345764:CAG:C	donor_loss	1.0000
16:11345767:GT:G	donor_loss	1.0000
16:11345768:T:G	donor_loss	1.0000
16:11372739:C:CC	acceptor_gain	1.0000
16:11268008:CCATC:C	acceptor_gain	0.9900
16:11268009:CATC:C	acceptor_gain	0.9900
16:11268009:CATCC:C	acceptor_gain	0.9900
16:11268011:TC:T	acceptor_gain	0.9900
16:11268011:TCCT:T	acceptor_loss	0.9900
16:11268012:CC:C	acceptor_gain	0.9900
16:11268012:CCTAA:C	acceptor_loss	0.9900
16:11281121:A:AC	donor_gain	0.9900
16:11281122:C:CC	donor_gain	0.9900
16:11281129:A:AC	donor_gain	0.9900
16:11372735:CAAA:C	acceptor_gain	0.9900

AlphaMissense

931 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:11350751:G:C	W135C	0.999
16:11350751:G:T	W135C	0.999
16:11350709:G:C	K121N	0.998
16:11350709:G:T	K121N	0.998
16:11350749:T:A	W135R	0.998
16:11350749:T:C	W135R	0.998
16:11345543:G:C	K24N	0.997
16:11345543:G:T	K24N	0.997
16:11350662:G:A	G106R	0.997
16:11350662:G:C	G106R	0.997
16:11350663:G:A	G106E	0.995
16:11350655:G:A	M103I	0.994
16:11350655:G:C	M103I	0.994
16:11350655:G:T	M103I	0.994
16:11345646:T:A	W59R	0.993
16:11345646:T:C	W59R	0.993
16:11345655:G:C	G62R	0.993
16:11345713:T:C	F81S	0.993
16:11350702:C:A	A119D	0.993
16:11350707:A:G	K121E	0.993
16:11350669:T:A	V108D	0.992
16:11345648:G:C	W59C	0.991
16:11345648:G:T	W59C	0.991
16:11345654:G:C	Q61H	0.991
16:11345654:G:T	Q61H	0.991
16:11345712:T:C	F81L	0.991
16:11345714:C:A	F81L	0.991
16:11345714:C:G	F81L	0.991
16:11350690:C:A	P115H	0.991
16:11350720:T:C	L125P	0.991

dbSNP variants (sampled 300 via entrez): RS1000137712 (16:11349757 A>G), RS1000275208 (16:11349986 G>T), RS1000505238 (16:11350575 G>A), RS1001009019 (16:11346731 C>A,G), RS1001050131 (16:11345974 G>A), RS1001353821 (16:11347306 C>G,T), RS1001525820 (16:11348906 G>A), RS1002140615 (16:11345150 C>G,T), RS1002172704 (16:11351646 C>A,T), RS1002740012 (16:11351743 A>C), RS1002833308 (16:11344070 G>A,C,T), RS1003013213 (16:11348357 C>T), RS1003042658 (16:11348195 G>T), RS1003171640 (16:11345124 G>C), RS1003413550 (16:11344140 G>C)

Disease associations

OMIM: gene MIM:612426 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Bloom syndrome	Moderate	Autosomal recessive

Mondo (1): Bloom syndrome (MONDO:0008876)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000258_5	Type 1 diabetes	3.000000e-06
GCST001341_12	Multiple sclerosis	6.000000e-07
GCST001725_27	Inflammatory bowel disease	2.000000e-16
GCST002367_6	Social communication problems	2.000000e-06
GCST002793_4	Vein graft stenosis in coronary artery bypass grafting	6.000000e-06
GCST002899_41	HDL cholesterol	7.000000e-09
GCST004131_115	Inflammatory bowel disease	1.000000e-06
GCST004132_39	Crohn’s disease	1.000000e-07
GCST005038_93	Allergic disease (asthma, hay fever or eczema)	6.000000e-38
GCST005038_94	Allergic disease (asthma, hay fever or eczema)	6.000000e-09
GCST005528_30	Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)	2.000000e-07
GCST005531_10	Multiple sclerosis	7.000000e-18
GCST006409_39	Allergic rhinitis	2.000000e-17
GCST007993_25	Asthma (adult onset)	1.000000e-08
GCST007995_46	Asthma (childhood onset)	5.000000e-14
GCST90002385_74	High light scatter reticulocyte count	6.000000e-16
GCST90002386_281	High light scatter reticulocyte percentage of red cells	1.000000e-14
GCST90002391_74	Mean corpuscular hemoglobin concentration	3.000000e-10
GCST90002392_496	Mean corpuscular volume	2.000000e-12
GCST90002397_230	Mean spheric corpuscular volume	7.000000e-44
GCST90002400_170	Plateletcrit	3.000000e-15
GCST90002401_109	Platelet distribution width	2.000000e-18
GCST90002402_179	Platelet count	7.000000e-17
GCST90002404_334	Red cell distribution width	6.000000e-09
GCST90002405_357	Reticulocyte count	2.000000e-22
GCST90002406_431	Reticulocyte fraction of red cells	2.000000e-21

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment
EFO:0007051	vein graft stenosis
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:1002011	adult onset asthma
EFO:0007986	reticulocyte count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001816	Bloom Syndrome	C16.131.077.137; C16.320.798.313; C18.452.284.100; C20.673.795.313

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

59 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases methylation, decreases expression	4
Aflatoxin B1	affects expression, increases expression, increases methylation	4
bisphenol A	decreases methylation, affects expression, decreases expression	3
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	3
sodium arsenite	increases expression	2
Resveratrol	affects cotreatment, increases expression, decreases expression	2
Estradiol	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tunicamycin	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
GSK-J4	decreases expression	1
propionaldehyde	decreases expression	1
o,p’-DDT	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
chromium hexavalent ion	decreases expression, increases abundance	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1

Clinical trials (associated diseases)

3 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00021437	Not specified	COMPLETED	Biological Significance of the Bloom’s Syndrome Protein
NCT04251325	Not specified	UNKNOWN	Socio-demographic Characteristics of Basic Life Support Course Participants
NCT04353089	Not specified	UNKNOWN	Geographical Association Between Basic Life Support Courses, Bystander Cardiopulmonary Resuscitation and Survival