Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	116028
Gene name Gene Name - the full gene name approved by the HGNC.	RecQ mediated genome instability 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RMI2
Synonyms (NCBI Gene) Gene synonyms aliases	BLAP18, C16orf75
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.13
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(265)

miRTarBase ID	miRNA	Experiments	Reference
MIRT562773	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT562772	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT562771	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT562770	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT562769	hsa-miR-573	PAR-CLIP	20371350
MIRT562768	hsa-miR-4480	PAR-CLIP	20371350
MIRT562773	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT562772	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT562771	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT562770	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT562769	hsa-miR-573	PAR-CLIP	20371350
MIRT562768	hsa-miR-4480	PAR-CLIP	20371350
MIRT1308215	hsa-let-7a	CLIP-seq
MIRT1308216	hsa-let-7b	CLIP-seq
MIRT1308217	hsa-let-7c	CLIP-seq
MIRT1308218	hsa-let-7d	CLIP-seq
MIRT1308219	hsa-let-7e	CLIP-seq
MIRT1308220	hsa-let-7f	CLIP-seq
MIRT1308221	hsa-let-7g	CLIP-seq
MIRT1308222	hsa-let-7i	CLIP-seq
MIRT1308223	hsa-miR-1225-5p	CLIP-seq
MIRT1308224	hsa-miR-1252	CLIP-seq
MIRT1308225	hsa-miR-1253	CLIP-seq
MIRT1308226	hsa-miR-125a-3p	CLIP-seq
MIRT1308227	hsa-miR-1283	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308229	hsa-miR-1324	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308234	hsa-miR-216a	CLIP-seq
MIRT1308235	hsa-miR-2467-3p	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308238	hsa-miR-3121-3p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308240	hsa-miR-3123	CLIP-seq
MIRT1308241	hsa-miR-3133	CLIP-seq
MIRT1308242	hsa-miR-3140-3p	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT1308244	hsa-miR-3148	CLIP-seq
MIRT1308245	hsa-miR-3163	CLIP-seq
MIRT1308246	hsa-miR-3166	CLIP-seq
MIRT1308247	hsa-miR-3182	CLIP-seq
MIRT1308248	hsa-miR-3189-3p	CLIP-seq
MIRT1308249	hsa-miR-3190	CLIP-seq
MIRT1308250	hsa-miR-330-3p	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT1308253	hsa-miR-34b	CLIP-seq
MIRT1308254	hsa-miR-3613-3p	CLIP-seq
MIRT1308255	hsa-miR-3618	CLIP-seq
MIRT1308256	hsa-miR-3622b-5p	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308258	hsa-miR-3647-5p	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308260	hsa-miR-3672	CLIP-seq
MIRT1308261	hsa-miR-3685	CLIP-seq
MIRT1308262	hsa-miR-3687	CLIP-seq
MIRT1308263	hsa-miR-3688-3p	CLIP-seq
MIRT1308264	hsa-miR-3713	CLIP-seq
MIRT1308265	hsa-miR-371-5p	CLIP-seq
MIRT1308266	hsa-miR-371b-5p	CLIP-seq
MIRT1308267	hsa-miR-3921	CLIP-seq
MIRT1308268	hsa-miR-3927	CLIP-seq
MIRT1308269	hsa-miR-3978	CLIP-seq
MIRT1308270	hsa-miR-4251	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308272	hsa-miR-4269	CLIP-seq
MIRT1308273	hsa-miR-4282	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308275	hsa-miR-4329	CLIP-seq
MIRT1308276	hsa-miR-4420	CLIP-seq
MIRT1308277	hsa-miR-4442	CLIP-seq
MIRT1308278	hsa-miR-4458	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT1308280	hsa-miR-4476	CLIP-seq
MIRT1308281	hsa-miR-4500	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308284	hsa-miR-4514	CLIP-seq
MIRT1308285	hsa-miR-4528	CLIP-seq
MIRT1308286	hsa-miR-4533	CLIP-seq
MIRT1308287	hsa-miR-4650-3p	CLIP-seq
MIRT1308288	hsa-miR-4653-5p	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT1308290	hsa-miR-4686	CLIP-seq
MIRT1308291	hsa-miR-4688	CLIP-seq
MIRT1308292	hsa-miR-4692	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308294	hsa-miR-4699-3p	CLIP-seq
MIRT1308295	hsa-miR-4708-3p	CLIP-seq
MIRT1308296	hsa-miR-4711-3p	CLIP-seq
MIRT1308297	hsa-miR-4731-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT1308302	hsa-miR-4801	CLIP-seq
MIRT1308303	hsa-miR-486-3p	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308306	hsa-miR-513a-3p	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308312	hsa-miR-548c-3p	CLIP-seq
MIRT1308313	hsa-miR-548l	CLIP-seq
MIRT1308314	hsa-miR-548n	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT1308317	hsa-miR-548t	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308320	hsa-miR-592	CLIP-seq
MIRT1308321	hsa-miR-597	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308324	hsa-miR-668	CLIP-seq
MIRT1308325	hsa-miR-877	CLIP-seq
MIRT1308326	hsa-miR-891a	CLIP-seq
MIRT1308327	hsa-miR-922	CLIP-seq
MIRT1308328	hsa-miR-98	CLIP-seq
MIRT1308223	hsa-miR-1225-5p	CLIP-seq
MIRT2091441	hsa-miR-1251	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308241	hsa-miR-3133	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308256	hsa-miR-3622b-5p	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308258	hsa-miR-3647-5p	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308272	hsa-miR-4269	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT2091443	hsa-miR-4496	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308284	hsa-miR-4514	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT1308290	hsa-miR-4686	CLIP-seq
MIRT1308292	hsa-miR-4692	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308297	hsa-miR-4731-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT1308302	hsa-miR-4801	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT2091444	hsa-miR-558	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308215	hsa-let-7a	CLIP-seq
MIRT1308216	hsa-let-7b	CLIP-seq
MIRT1308217	hsa-let-7c	CLIP-seq
MIRT1308218	hsa-let-7d	CLIP-seq
MIRT1308219	hsa-let-7e	CLIP-seq
MIRT1308220	hsa-let-7f	CLIP-seq
MIRT1308221	hsa-let-7g	CLIP-seq
MIRT1308222	hsa-let-7i	CLIP-seq
MIRT2091441	hsa-miR-1251	CLIP-seq
MIRT1308226	hsa-miR-125a-3p	CLIP-seq
MIRT1308227	hsa-miR-1283	CLIP-seq
MIRT1308229	hsa-miR-1324	CLIP-seq
MIRT1308230	hsa-miR-181a	CLIP-seq
MIRT1308231	hsa-miR-181b	CLIP-seq
MIRT1308232	hsa-miR-181c	CLIP-seq
MIRT1308233	hsa-miR-181d	CLIP-seq
MIRT1308235	hsa-miR-2467-3p	CLIP-seq
MIRT1308236	hsa-miR-2467-5p	CLIP-seq
MIRT1308239	hsa-miR-3121-5p	CLIP-seq
MIRT1308243	hsa-miR-3145-3p	CLIP-seq
MIRT2316051	hsa-miR-3150b-3p	CLIP-seq
MIRT1308246	hsa-miR-3166	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308250	hsa-miR-330-3p	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT1308253	hsa-miR-34b	CLIP-seq
MIRT1308255	hsa-miR-3618	CLIP-seq
MIRT1308257	hsa-miR-3646	CLIP-seq
MIRT1308259	hsa-miR-3662	CLIP-seq
MIRT1308264	hsa-miR-3713	CLIP-seq
MIRT1308267	hsa-miR-3921	CLIP-seq
MIRT1308268	hsa-miR-3927	CLIP-seq
MIRT1308271	hsa-miR-4262	CLIP-seq
MIRT1308274	hsa-miR-4284	CLIP-seq
MIRT1308276	hsa-miR-4420	CLIP-seq
MIRT1308278	hsa-miR-4458	CLIP-seq
MIRT1308279	hsa-miR-4459	CLIP-seq
MIRT2091443	hsa-miR-4496	CLIP-seq
MIRT1308281	hsa-miR-4500	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT1308283	hsa-miR-4511	CLIP-seq
MIRT1308287	hsa-miR-4650-3p	CLIP-seq
MIRT1308288	hsa-miR-4653-5p	CLIP-seq
MIRT1308289	hsa-miR-4680-5p	CLIP-seq
MIRT2316052	hsa-miR-4684-5p	CLIP-seq
MIRT1308291	hsa-miR-4688	CLIP-seq
MIRT2316053	hsa-miR-4689	CLIP-seq
MIRT1308293	hsa-miR-4695-5p	CLIP-seq
MIRT1308294	hsa-miR-4699-3p	CLIP-seq
MIRT1308298	hsa-miR-4733-3p	CLIP-seq
MIRT1308299	hsa-miR-4742-5p	CLIP-seq
MIRT1308300	hsa-miR-4764-3p	CLIP-seq
MIRT2316054	hsa-miR-4784	CLIP-seq
MIRT1308301	hsa-miR-4799-5p	CLIP-seq
MIRT2316055	hsa-miR-485-5p	CLIP-seq
MIRT1308303	hsa-miR-486-3p	CLIP-seq
MIRT1308304	hsa-miR-494	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308306	hsa-miR-513a-3p	CLIP-seq
MIRT1308307	hsa-miR-520d-5p	CLIP-seq
MIRT1308308	hsa-miR-524-5p	CLIP-seq
MIRT1308309	hsa-miR-543	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT2091444	hsa-miR-558	CLIP-seq
MIRT1308319	hsa-miR-587	CLIP-seq
MIRT1308320	hsa-miR-592	CLIP-seq
MIRT1308321	hsa-miR-597	CLIP-seq
MIRT1308322	hsa-miR-618	CLIP-seq
MIRT1308323	hsa-miR-665	CLIP-seq
MIRT1308324	hsa-miR-668	CLIP-seq
MIRT1308325	hsa-miR-877	CLIP-seq
MIRT1308326	hsa-miR-891a	CLIP-seq
MIRT1308327	hsa-miR-922	CLIP-seq
MIRT2316056	hsa-miR-942	CLIP-seq
MIRT1308328	hsa-miR-98	CLIP-seq
MIRT1308228	hsa-miR-1323	CLIP-seq
MIRT1308237	hsa-miR-3120-3p	CLIP-seq
MIRT1308310	hsa-miR-545	CLIP-seq
MIRT1308311	hsa-miR-548aa	CLIP-seq
MIRT1308315	hsa-miR-548o	CLIP-seq
MIRT1308316	hsa-miR-548p	CLIP-seq
MIRT2316051	hsa-miR-3150b-3p	CLIP-seq
MIRT2091442	hsa-miR-3185	CLIP-seq
MIRT1308251	hsa-miR-33a	CLIP-seq
MIRT1308252	hsa-miR-33b	CLIP-seq
MIRT2458293	hsa-miR-4502	CLIP-seq
MIRT1308282	hsa-miR-450b-5p	CLIP-seq
MIRT2316053	hsa-miR-4689	CLIP-seq
MIRT2316054	hsa-miR-4784	CLIP-seq
MIRT1308305	hsa-miR-507	CLIP-seq
MIRT1308318	hsa-miR-557	CLIP-seq
MIRT2458294	hsa-miR-628-5p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20711169, 28514442, 29997244
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	IBA	21873635
GO:0016607	Component	Nuclear speck	IBA	21873635
GO:0016607	Component	Nuclear speck	IDA
GO:0033045	Process	Regulation of sister chromatid segregation	IBA	21873635
GO:0033045	Process	Regulation of sister chromatid segregation	IMP	27977684
GO:0043007	Process	Maintenance of rDNA	IBA	21873635
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA	21873635

MIM	HGNC	e!Ensembl
612426	28349	ENSG00000175643

Protein

UniProt ID

Q96E14

Protein name

RecQ-mediated genome instability protein 2 (hRMI2) (BLM-associated protein of 18 kDa) (BLAP18)

Protein 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 sta

PDB

3MXN , 3NBH , 4DAY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16100	RMI2	21 → 143	RecQ-mediated genome instability protein 2	Family

Sequence

MAAAADSFSGGPAGVRLPRSPPLKVLAEQLRRDAEGGPGAWRLSRAAAGRGPLDLAAVWM
QGRVVMADRGEARLRDPSGDFSVRGLERVPRGRPCLVPGKYVMVMGVVQACSPEPCLQAV
KMTDLSDNPIHESMWELEVEDLHRNIP

Sequence length

147

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Systemic onset juvenile chronic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	23603761
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs869025224	30595370, 21383967
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	25751624
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 23128233, 26192919
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364, 24076602
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	23143594, 22482804, 26974007
Rheumatoid arthritis	Rheumatoid Arthritis, Systemic Juvenile	rs587776843	23603761

Show/Hide Unknown Diseases (14)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	21150878	ClinVar, GWAS
Celiac disease	Celiac Disease, Celiac disease	20190752	ClinVar, GWAS
Crohn disease	Crohn Disease	26192919, 22482804, 28067908, 26974007	ClinVar
Leprosy	Leprosy	25642632	ClinVar, GWAS
Diabetes	Diabetes		GWAS
Eczema	Eczema		GWAS
Multiple Sclerosis	Multiple Sclerosis		GWAS
Bulimia	Bulimia		GWAS
Biliary Cirrhosis	Biliary Cirrhosis		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Crohn Disease	Crohn Disease		GWAS
Psoriasis vulgaris	Psoriasis vulgaris		GWAS
Dementia	Dementia		GWAS
Oligodendroglioma	Oligodendroglioma		GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Bloom Syndrome	Associate	18923071, 21399624, 26556339, 27977684, 33500419, 35119917
Breast Neoplasms	Stimulate	36533385
Carcinogenesis	Associate	35552266
Carcinoma Hepatocellular	Associate	34634948
Microsatellite Instability	Associate	35552266
Neoplasms	Associate	35552266, 36533385

RMI2 (RecQ mediated genome instability 2)