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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4552
Gene name Gene Name - the full gene name approved by the HGNC.	5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTRR
Synonyms (NCBI Gene) Gene synonyms aliases	MSR, cblE
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires me

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853061	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs137853062	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs142714881	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs147277149	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs148909799	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs754990692	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs768980918	GAGA>-	Pathogenic, uncertain-significance	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs796052001	GTT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, inframe deletion, intron variant
rs893229476	T>C	Pathogenic	Non coding transcript variant, intron variant
rs1189298981	G>-,GG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1293600145	A>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1554006017	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1579619636	G>-	Pathogenic	Intron variant, splice donor variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1579758005	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all(122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001613	hsa-let-7b-5p	pSILAC	18668040
MIRT031186	hsa-miR-19b-3p	Sequencing	20371350
MIRT001613	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT1165395	hsa-miR-2110	CLIP-seq
MIRT1165396	hsa-miR-3150a-3p	CLIP-seq
MIRT1165397	hsa-miR-3175	CLIP-seq
MIRT1165398	hsa-miR-3647-3p	CLIP-seq
MIRT1165399	hsa-miR-3670	CLIP-seq
MIRT1165400	hsa-miR-3922-5p	CLIP-seq
MIRT1165401	hsa-miR-4260	CLIP-seq
MIRT1165402	hsa-miR-4269	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165404	hsa-miR-4646-5p	CLIP-seq
MIRT1165405	hsa-miR-513a-5p	CLIP-seq
MIRT1165406	hsa-miR-939	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT1165395	hsa-miR-2110	CLIP-seq
MIRT1165408	hsa-miR-224	CLIP-seq
MIRT1165409	hsa-miR-3121-5p	CLIP-seq
MIRT1165396	hsa-miR-3150a-3p	CLIP-seq
MIRT1165397	hsa-miR-3175	CLIP-seq
MIRT1165410	hsa-miR-3199	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT1165399	hsa-miR-3670	CLIP-seq
MIRT1165400	hsa-miR-3922-5p	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165413	hsa-miR-409-3p	CLIP-seq
MIRT1165401	hsa-miR-4260	CLIP-seq
MIRT1165414	hsa-miR-4264	CLIP-seq
MIRT1165415	hsa-miR-4287	CLIP-seq
MIRT1165416	hsa-miR-4457	CLIP-seq
MIRT1165417	hsa-miR-4469	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165418	hsa-miR-4493	CLIP-seq
MIRT1165419	hsa-miR-4533	CLIP-seq
MIRT1165404	hsa-miR-4646-5p	CLIP-seq
MIRT1165420	hsa-miR-4677-3p	CLIP-seq
MIRT1165421	hsa-miR-4679	CLIP-seq
MIRT1165422	hsa-miR-4685-3p	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165424	hsa-miR-4740-5p	CLIP-seq
MIRT1165425	hsa-miR-4781-3p	CLIP-seq
MIRT1165426	hsa-miR-4797-5p	CLIP-seq
MIRT1165427	hsa-miR-485-3p	CLIP-seq
MIRT1165428	hsa-miR-510	CLIP-seq
MIRT1165429	hsa-miR-512-5p	CLIP-seq
MIRT1165405	hsa-miR-513a-5p	CLIP-seq
MIRT1165430	hsa-miR-513b	CLIP-seq
MIRT1165431	hsa-miR-556-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT1165433	hsa-miR-593	CLIP-seq
MIRT1165434	hsa-miR-610	CLIP-seq
MIRT1165435	hsa-miR-622	CLIP-seq
MIRT1165436	hsa-miR-671-5p	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq
MIRT1165406	hsa-miR-939	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT2276628	hsa-miR-1278	CLIP-seq
MIRT1165408	hsa-miR-224	CLIP-seq
MIRT2276629	hsa-miR-320a	CLIP-seq
MIRT2276630	hsa-miR-320b	CLIP-seq
MIRT2276631	hsa-miR-320c	CLIP-seq
MIRT2276632	hsa-miR-320d	CLIP-seq
MIRT2276633	hsa-miR-3923	CLIP-seq
MIRT1165414	hsa-miR-4264	CLIP-seq
MIRT1165415	hsa-miR-4287	CLIP-seq
MIRT2276634	hsa-miR-4429	CLIP-seq
MIRT1165416	hsa-miR-4457	CLIP-seq
MIRT1165417	hsa-miR-4469	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT1165422	hsa-miR-4685-3p	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165428	hsa-miR-510	CLIP-seq
MIRT1165429	hsa-miR-512-5p	CLIP-seq
MIRT1165430	hsa-miR-513b	CLIP-seq
MIRT1165431	hsa-miR-556-5p	CLIP-seq
MIRT1165434	hsa-miR-610	CLIP-seq
MIRT1165435	hsa-miR-622	CLIP-seq
MIRT2276636	hsa-miR-628-3p	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT2575481	hsa-miR-1263	CLIP-seq
MIRT2575482	hsa-miR-205	CLIP-seq
MIRT2575483	hsa-miR-2053	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT2575484	hsa-miR-3607-3p	CLIP-seq
MIRT2575485	hsa-miR-3646	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165413	hsa-miR-409-3p	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT2575486	hsa-miR-4716-5p	CLIP-seq
MIRT2575487	hsa-miR-4762-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT2575488	hsa-miR-640	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq
MIRT2575481	hsa-miR-1263	CLIP-seq
MIRT2685514	hsa-miR-134	CLIP-seq
MIRT2575482	hsa-miR-205	CLIP-seq
MIRT2575483	hsa-miR-2053	CLIP-seq
MIRT2685515	hsa-miR-3118	CLIP-seq
MIRT2685516	hsa-miR-3164	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT2575484	hsa-miR-3607-3p	CLIP-seq
MIRT2575485	hsa-miR-3646	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT2575486	hsa-miR-4716-5p	CLIP-seq
MIRT2575487	hsa-miR-4762-5p	CLIP-seq
MIRT2685517	hsa-miR-4766-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT2575488	hsa-miR-640	CLIP-seq
MIRT2685518	hsa-miR-758	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003958	Function	NADPH-hemoprotein reductase activity	IDA	11466310
GO:0005515	Function	Protein binding	IPI	17288554, 25416956, 27771510
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	18221906
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IBA
GO:0009086	Process	Methionine biosynthetic process	IDA	11466310
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0009235	Process	Cobalamin metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0010181	Function	FMN binding	IBA
GO:0010181	Function	FMN binding	IDA	11466310
GO:0010181	Function	FMN binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016723	Function	Oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor	IDA	17892308
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IBA
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IDA	9501215, 11466310
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IEA
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	TAS	17892308
GO:0033353	Process	S-adenosylmethionine cycle	ISS	17369066
GO:0043418	Process	Homocysteine catabolic process	IDA	11466310
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0046655	Process	Folic acid metabolic process	IDA	11466310
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	17892308
GO:0050667	Process	Homocysteine metabolic process	IBA
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0070402	Function	NADPH binding	IDA	11466310
GO:0071949	Function	FAD binding	IDA	11466310
GO:0140104	Function	Molecular carrier activity	EXP	21071249

MIM	HGNC	e!Ensembl
602568	7473	ENSG00000124275

Protein

UniProt ID

Q9UBK8

Protein name

Methionine synthase reductase (MSR) (EC 1.16.1.8) (Aquacobalamin reductase) (AqCbl reductase)

Protein function

Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a compl

PDB

2QTL , 2QTZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00258	Flavodoxin_1	6 → 142	Flavodoxin	Domain
PF00667	FAD_binding_1	267 → 492	FAD binding domain	Domain
PF00175	NAD_binding_1	542 → 662	Oxidoreductase NAD-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in all tissues tested, particularly abundant in skeletal muscle.

Sequence

MRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTT
GTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGA
RHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLV
KSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASL
NIPGLPPEYLQVHLQESLGQEESQVSVTSADPVFQVPISKAVQLTTNDAIKTTLLVELDI
SNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLEDKREHCVLLKIKADTKKKGATLPQHI
PAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTSDSAEKRRLQELCSKQGAADYSRFVRDA
CACLLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHPGKLHFVFNIVEFLSTAT
TEVLRKGVCTGWLALLVASVLQPNIHASHEDSGKALAPKISISPRTTNSFHLPDDPSIPI
IMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHG
ILTHLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDV
HDALVQIISKEVGVEKLEAMKTLATLKEEKRYLQDIWS

Sequence length

698

Interactions

View interactions

	KEGG		Reactome
	Cobalamin transport and metabolism		Methylation Sulfur amino acid metabolism Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Methylcobalamin Deficiency	methylcobalamin deficiency type cble	rs893229476, rs778738842, rs147277149, rs1554006017, rs754990692, rs1293600145, rs1189298981, rs2126812944, rs768980918, rs1747827267, rs137853061, rs375908206, rs1579619636, rs2126808021, rs1734858651, rs137853062, rs1579758005 View all (2 more)	N/A
Neural Tube Defect	Neural tube defects, folate-sensitive	rs1734858651, rs137853062, rs893229476, rs778738842, rs147277149, rs754990692, rs1293600145, rs1189298981, rs768980918, rs137853061, rs375908206, rs1579619636	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gastrointestinal stromal tumor	gastrointestinal stromal tumor	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (105)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abruptio Placentae	Associate	17376725
Adenoma	Associate	16985020, 31740010
Adrenoleukodystrophy	Associate	19353223
Anemia Macrocytic	Associate	25526710
Anemia Megaloblastic	Associate	9501215
Aortic Aneurysm Abdominal	Associate	20871623
Aortic Dissection	Associate	20871623
Autistic Disorder	Associate	22057956
Azoospermia Nonobstructive	Associate	31377750
Beckwith Wiedemann Syndrome	Associate	30165906
Birth Weight	Associate	35631247
Breast Neoplasms	Associate	18842997, 22373582, 24130171, 25598430, 25801246, 27347936
Carcinoma Hepatocellular	Associate	19035314, 25318605, 27936032
Carcinoma Non Small Cell Lung	Associate	20737570
Carcinoma Renal Cell	Associate	24278388
Cardiovascular Diseases	Associate	28253292
Cartilage Diseases	Associate	27469625
Celiac Disease	Associate	21688148
Cerebral Infarction	Associate	21935458, 30884202
Choline Deficiency	Associate	27342765
Cleft Lip	Associate	26963196, 27604992
Cleft Palate	Associate	27167580
Cognition Disorders	Associate	25526710
Colonic Neoplasms	Associate	21603981
Colorectal Neoplasms	Associate	19776626, 20549016, 21603981, 22719222, 22961839, 26108676, 29925788, 31554631, 31740010, 36364857, 38514198
Colorectal Neoplasms	Stimulate	22719222
Communication Disorders	Associate	25526710
Conotruncal cardiac defects	Associate	19493349, 24585533, 30165839, 31851787
Coronary Artery Disease	Associate	20962453
Death	Associate	25840420, 27456431
Death	Inhibit	27456431
Dental Caries	Associate	37531512
Developmental Disabilities	Associate	9501215
Diabetes Gestational	Associate	35631247
Diabetes Mellitus Type 2	Associate	27983710
Dissection Thoracic Aorta	Associate	20871623
Double Outlet Right Ventricle	Associate	22057956, 29293099
Down Syndrome	Associate	10930360, 11443546, 15585767, 18257130, 18273817, 19096127, 20868477, 21045269, 22377700
Drug Related Side Effects and Adverse Reactions	Associate	17009228, 30927276
Ductus Arteriosus Patent	Associate	22057956
Dyslipidemias	Associate	26337056, 30786773
Esophagitis	Associate	25337902
Failure to Thrive	Associate	25526710
Folate Malabsorption Hereditary	Associate	26266420, 26561410, 35631247
Hashimoto Disease	Associate	23039890
Heart Defects Congenital	Associate	22057956, 28758112, 37183022
Heart Septal Defects Ventricular	Associate	28758112, 29293099, 33757570
Hepatitis B Chronic	Associate	38634541
Homocystinuria	Associate	25878036, 9501215
Homocystinuria Megaloblastic Anemia due to Defect in Cobalamin Metabolism CblE Complementation Type	Associate	25978498, 3384945
Hyperhomocysteinemia	Associate	15612980, 30786773, 9501215
Hypertension	Associate	23188888, 26266420, 26337056, 30786773, 32410296, 37154151
Hypertriglyceridemia	Associate	26337056, 30786773
Insulin Resistance	Associate	31200713
Insulin Resistance	Stimulate	31246991
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	36292614
Leukoencephalopathies	Associate	25526710
Lung Diseases	Associate	24307700
Lung Neoplasms	Associate	23372658, 24307700
Lymphatic Metastasis	Associate	25840420
Lymphoma Large B Cell Diffuse	Stimulate	18042267
Lymphoma Non Hodgkin	Associate	17119116, 18042267, 23913011, 25384508
Meningioma	Associate	18483342, 34169999
Mesothelioma Malignant	Associate	32429658
Metabolic Diseases	Associate	25318605, 28253292
Metabolic Syndrome	Associate	25429430
Metabolism Inborn Errors	Associate	31203192
Methylcobalamin Deficiency CblG Type	Associate	25526710, 25978498, 31951343
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	25978498
Microphthalmia Syndromic 10	Associate	25526710
Migraine Disorders	Associate	23430981
Migraine with Aura	Inhibit	23430981
Multiple Sclerosis	Associate	31038186
Muscle Hypotonia	Associate	25526710
Neoplasms	Inhibit	10673282
Neoplasms	Associate	14716779, 16985020, 17533396, 20549016, 31127906
Neural Tube Defects	Associate	10930360, 15060097, 26334892, 32410296
Neurocognitive Disorders	Associate	25526710
Neutropenia	Associate	30927276
Obesity	Associate	27793164, 27983710
Open Bite	Associate	35830630
Orofacial Cleft 1	Associate	26963196, 27167580
Osteoarthritis	Associate	27469625
Overweight	Associate	27793164, 27983710
Paroxysmal ventricular fibrillation	Associate	27759448
Polycystic Ovary Syndrome	Inhibit	31482954
Polycystic Ovary Syndrome	Associate	31482954, 33407572
Premature Birth	Associate	35631247
Prostatic Neoplasms	Associate	10673282, 31127906
Rectal Neoplasms	Associate	21603981
Severe Acute Respiratory Syndrome	Associate	25526710
Skin Diseases	Associate	29421402
Squamous Cell Carcinoma of Head and Neck	Associate	17596206
Stomach Neoplasms	Associate	20099281, 25337902, 25840420, 27456431, 30884202
Stomatitis	Associate	27452984
Temporomandibular Joint Disorders	Associate	21615938
Thyroiditis Autoimmune	Associate	23039890
Tourette Syndrome	Associate	21618417
Urinary Bladder Neoplasms	Associate	28348449
Urinary Tract Infections	Associate	39303450
Uterine Cervical Neoplasms	Associate	29740106
Uterine Cervicitis	Associate	32295543
Vascular Diseases	Associate	9501215
Vitiligo	Associate	30720153
Xanthomatosis Cerebrotendinous	Associate	15612980

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)