Mmadhc (metabolism of cobalamin associated D)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: Mmadhc (metabolism of cobalamin associated D) Rattus norvegicus

Analyze

Symbol:

Mmadhc

Name:

metabolism of cobalamin associated D

RGD ID:

1303272

Description:

Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and mitochondrion. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D); INTERACTS WITH 17beta-estradiol; 3,4-methylenedioxymethamphetamine; 4,4'-sulfonyldiphenol.

Type:

protein-coding

RefSeq Status:

PROVISIONAL

Previously known as:

CblD; cobalamin trafficking protein CblD; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; methylmalonic aciduria and homocystinuria type D homolog, mitochondrial; methylmalonic aciduria and homocystinuria, cblD type; MGC93805; RGD1303272; similar to RIKEN cDNA 2010311D03

RGD Orthologs

Alliance Genes

More Info

more info ...

Candidate Gene For:

Kidm53

Latest Assembly:

mRatBN7.2 - mRatBN7.2 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	3	34,708,649 - 34,726,554 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	34,708,649 - 34,726,771 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	38,102,766 - 38,120,695 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	46,687,484 - 46,705,415 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	44,478,719 - 44,496,636 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	35,783,511 - 35,801,474 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	35,783,623 - 35,801,614 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	40,897,289 - 40,915,271 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	31,224,132 - 31,242,473 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	31,120,504 - 31,138,845 (-)	NCBI
Celera	3	32,887,861 - 32,905,961 (-)	NCBI		Celera
Cytogenetic Map	3	q12	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (ISO)

inherited metabolic disorder (ISO)

methylmalonic aciduria and homocystinuria type cblC (ISO)

methylmalonic aciduria and homocystinuria type cblD (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2-hydroxypropanoic acid (ISO)

3,4-methylenedioxymethamphetamine (EXP)

4,4'-sulfonyldiphenol (EXP)

acrylamide (ISO)

aflatoxin M1 (ISO)

arsane (ISO)

arsenic atom (ISO)

arsenite(3-) (ISO)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cadmium atom (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chloropicrin (ISO)

clobetasol (ISO)

crocidolite asbestos (ISO)

DDT (EXP)

dibenzo[a,l]pyrene (ISO)

dichloroacetic acid (ISO)

dicrotophos (ISO)

disodium selenite (ISO)

ethanol (ISO)

flutamide (EXP)

folic acid (ISO)

gentamycin (EXP)

methapyrilene (EXP)

methoxychlor (EXP)

nefazodone (EXP)

oxaliplatin (EXP)

paracetamol (ISO)

pirinixic acid (EXP,ISO)

potassium dichromate (ISO)

rac-lactic acid (ISO)

resveratrol (ISO)

tetrachloromethane (ISO)

tolcapone (EXP)

topotecan (EXP)

tunicamycin (ISO)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cobalamin metabolic process (IEA,ISO,ISS)

Cellular Component

cytoplasm (ISO,ISS)

cytosol (IEA,ISO)

mitochondrion (IBA,IEA,ISO,ISS)

Molecular Function

protein binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.	Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	GOA pipeline	RGD automated data pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:15489334	PMID:23270877	PMID:24722857

Genomics

Comparative Map Data

Mmadhc
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	3	34,708,649 - 34,726,554 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	34,708,649 - 34,726,771 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	38,102,766 - 38,120,695 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	46,687,484 - 46,705,415 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	44,478,719 - 44,496,636 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	35,783,511 - 35,801,474 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	35,783,623 - 35,801,614 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	40,897,289 - 40,915,271 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	31,224,132 - 31,242,473 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	31,120,504 - 31,138,845 (-)	NCBI
Celera	3	32,887,861 - 32,905,961 (-)	NCBI		Celera
Cytogenetic Map	3	q12	NCBI

MMADHC
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	149,569,637 - 149,587,775 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	149,569,637 - 149,587,778 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	150,426,151 - 150,444,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	150,134,397 - 150,152,523 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	150,251,659 - 150,269,785	NCBI
Celera	2	144,039,995 - 144,058,186 (-)	NCBI		Celera
Cytogenetic Map	2	q23.2	NCBI
HuRef	2	142,325,245 - 142,343,436 (-)	NCBI		HuRef
CHM1_1	2	150,432,065 - 150,450,246 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	150,020,083 - 150,038,221 (-)	NCBI		T2T-CHM13v2.0

Mmadhc
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	50,169,893 - 50,189,033 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	50,169,893 - 50,186,813 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	50,279,881 - 50,299,021 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	50,279,881 - 50,296,801 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	50,135,401 - 50,152,197 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	50,101,890 - 50,118,686 (-)	NCBI		MGSCv36	mm8
Celera	2	51,952,182 - 51,968,978 (-)	NCBI		Celera
Cytogenetic Map	2	C1.1	NCBI
cM Map	2	28.92	NCBI

Mmadhc
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955440	15,316,822 - 15,337,688 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955440	15,317,877 - 15,338,139 (-)	NCBI	ChiLan1.0	ChiLan1.0

MMADHC
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	2B	25,360,062 - 25,380,111 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	10,278,656 - 10,298,700 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	153,924,371 - 153,942,537 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	153,924,371 - 153,942,537 (-)	Ensembl	panpan1.1		panPan2

MMADHC
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	19	51,154,227 - 51,177,950 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	19	51,154,249 - 51,177,836 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	19	51,275,857 - 51,300,346 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	19	52,628,133 - 52,652,640 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	19	52,628,045 - 52,652,584 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	19	51,296,784 - 51,321,270 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	19	51,405,022 - 51,429,713 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	19	52,805,790 - 52,830,278 (-)	NCBI		UU_Cfam_GSD_1.0

Mmadhc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	113,830,468 - 113,846,017 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936469	27,771,937 - 27,787,233 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936469	27,771,741 - 27,804,324 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MMADHC
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	2,499,154 - 2,520,799 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	2,499,080 - 2,517,361 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	1,931,294 - 1,949,494 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MMADHC
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	10	34,999,856 - 35,019,575 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	34,999,067 - 35,019,389 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	164,518,012 - 164,535,986 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mmadhc
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624866	2,314,864 - 2,342,079 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624866	2,314,864 - 2,342,069 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in Mmadhc
321 total Variants

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	289
Count of miRNA genes:	193
Interacting mature miRNAs:	225
Transcripts:	ENSRNOT00000066058
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
4889966	Bss95	Bone structure and strength QTL 95	4.4		tibia area (VT:1000281)	tibia-fibula cross-sectional area (CMO:0001718)	3	1	36847613	Rat
2312664	Scl62	Serum cholesterol level QTL 62		0.05	blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	3	1	38710544	Rat
631568	Bp92	Blood pressure QTL 92	2.2	0.005	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	3	1	39874793	Rat
2290452	Scl56	Serum cholesterol level QTL 56	2.26		blood cholesterol amount (VT:0000180)	plasma total cholesterol level (CMO:0000585)	3	1	91609953	Rat
10401810	Kidm53	Kidney mass QTL 53			kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	3	8227194	47233430	Rat
70191	BpQTLcluster4	Blood pressure QTL cluster 4	3		arterial blood pressure trait (VT:2000000)	absolute change in mean arterial blood pressure (CMO:0000533)	3	10778704	50302886	Rat
70191	BpQTLcluster4	Blood pressure QTL cluster 4	3		arterial blood pressure trait (VT:2000000)	absolute change in systolic blood pressure (CMO:0000607)	3	10778704	50302886	Rat
1358905	Hrtrt17	Heart rate QTL 17	5.9	0.000014	heart pumping trait (VT:2000009)	heart rate (CMO:0000002)	3	10861912	89878372	Rat
1358885	Bp251	Blood pressure QTL 251	3.8		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	14489145	121056321	Rat
1358888	Bp264	Blood pressure QTL 264	4.43		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	14489145	121056321	Rat
2298542	Neuinf11	Neuroinflammation QTL 11	3.9		nervous system integrity trait (VT:0010566)	spinal cord complement component 1, q subcomponent, B chain mRNA level (CMO:0002126)	3	15005422	76927699	Rat
631676	Cm8	Cardiac mass QTL 8	7.03	0.0001	aorta mass (VT:0002845)	aorta weight (CMO:0000076)	3	16954708	61954708	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	heart rate (CMO:0000002)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	heart rate (CMO:0000002)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	body weight (CMO:0000012)	3	17374703	35528639	Rat
634306	Bp140	Blood pressure QTL 140	3.3	0.0013	arterial blood pressure trait (VT:2000000)	body weight (CMO:0000012)	3	17374703	35528639	Rat
731172	Bp151	Blood pressure QTL 151		0.04	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	3	18311454	47233430	Rat
12879849	Bw180	Body weight QTL 180		0.037	body mass (VT:0001259)	body weight (CMO:0000012)	3	18311454	47233430	Rat
12879850	Cm91	Cardiac mass QTL 91		0.001	heart mass (VT:0007028)	heart wet weight to body weight ratio (CMO:0002408)	3	18311454	47233430	Rat
12879851	Cm92	Cardiac mass QTL 92		0.001	heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	3	18311454	47233430	Rat
12879852	Cm93	Cardiac mass QTL 93		0.001	heart right ventricle mass (VT:0007033)	heart right ventricle weight to body weight ratio (CMO:0000914)	3	18311454	47233430	Rat
12879853	Am5	Aortic mass QTL 5		0.001	aorta mass (VT:0002845)	aorta weight to aorta length to body weight ratio (CMO:0002722)	3	18311454	47233430	Rat
12879854	Kidm63	Kidney mass QTL 63		0.001	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	3	18311454	47233430	Rat
10450804	Scl70	Serum cholesterol level QTL 70	4.7	0.001	blood LDL cholesterol amount (VT:0000181)	blood low density lipoprotein cholesterol level (CMO:0000053)	3	20714090	65714090	Rat
10450794	Scl69	Serum cholesterol level QTL 69	6.3	0.001	blood LDL cholesterol amount (VT:0000181)	blood low density lipoprotein cholesterol level (CMO:0000053)	3	20714090	65714090	Rat
1298073	Cm13	Cardiac mass QTL 13	2.5		heart mass (VT:0007028)	heart wet weight (CMO:0000069)	3	25013911	38192233	Rat
631832	Sach1	Saccharin preference QTL 1	2.7	0.02	consumption behavior trait (VT:0002069)	calculated saccharin drink intake volume (CMO:0001600)	3	27494621	44188411	Rat
2313049	Bss72	Bone structure and strength QTL 72	2.6	0.0001	tibia area (VT:1000281)	tibia midshaft cross-sectional area (CMO:0001717)	3	27494621	50302886	Rat
2313076	Bss74	Bone structure and strength QTL 74	2	0.0001	tibia strength trait (VT:1000284)	tibia total energy absorbed before break (CMO:0001736)	3	27494621	50302886	Rat
2313079	Bss73	Bone structure and strength QTL 73	1.5		tibia size trait (VT:0100001)	tibia midshaft cross-sectional area (CMO:0001717)	3	27494621	50302886	Rat
2313093	Bmd77	Bone mineral density QTL 77	2.2	0.0001	tibia mineral mass (VT:1000283)	compact volumetric bone mineral density (CMO:0001730)	3	27494621	50302886	Rat
2313101	Bmd76	Bone mineral density QTL 76	3.6	0.0001	tibia mineral mass (VT:1000283)	total volumetric bone mineral density (CMO:0001728)	3	27494621	50302886	Rat
2302055	Pia30	Pristane induced arthritis QTL 30	3.5	0.001	blood autoantibody amount (VT:0003725)	serum immunoglobulin M-type rheumatoid factor level relative to an arbitrary reference serum (CMO:0002111)	3	27936919	72936919	Rat
9590286	Uminl1	Urine mineral level QTL 1	3.5	0.001	urine mineral amount (VT:0015086)	urine electrolyte level (CMO:0000593)	3	28249687	73249687	Rat
8694196	Abfw2	Abdominal fat weight QTL 2	16.58	0.001	visceral adipose mass (VT:0010063)	abdominal fat pad weight to body weight ratio (CMO:0000095)	3	28249687	73249687	Rat
8694386	Bw159	Body weight QTL 159	4.52	0.001	body lean mass (VT:0010483)	lean tissue morphological measurement (CMO:0002184)	3	28249687	73249687	Rat
8552950	Pigfal12	Plasma insulin-like growth factor 1 level QTL 12	7.3		blood insulin-like growth factor amount (VT:0010479)	plasma insulin-like growth factor 1 level (CMO:0001299)	3	28249687	73249687	Rat
9590136	Scort3	Serum corticosterone level QTL 3	23.37	0.001	blood corticosterone amount (VT:0005345)	plasma corticosterone level (CMO:0001173)	3	28249687	73249687	Rat
2303593	Gluco46	Glucose level QTL 46	3		blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	3	28468571	73468571	Rat
1354590	Despr11	Despair related QTL 11		0.000031	locomotor behavior trait (VT:0001392)	amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)	3	28468571	73468571	Rat
737818	Hcar12	Hepatocarcinoma resistance QTL 12	2.6		liver integrity trait (VT:0010547)	volume of individual liver tumorous lesion (CMO:0001078)	3	29463235	118376539	Rat
61419	Cia11	Collagen induced arthritis QTL 11	5.6		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	3	30356773	98535386	Rat
61356	Bp37	Blood pressure QTL 37	3		blood pressure trait (VT:0000183)	systolic blood pressure (CMO:0000004)	3	30684642	75684642	Rat
631647	Bp122	Blood pressure QTL 122	6.2		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	3	30684642	75684642	Rat
70216	Cm14	Cardiac mass QTL 14	2.1		heart mass (VT:0007028)	heart wet weight (CMO:0000069)	3	31172320	163586636	Rat
11565451	Bw177	Body weight QTL 177		0.002	body mass (VT:0001259)	body weight (CMO:0000012)	3	31426403	70668733	Rat
11565452	Kidm57	Kidney mass QTL 57		0.001	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	3	31426403	70668733	Rat
12879866	Cm94	Cardiac mass QTL 94		0.001	heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	3	31426403	70668733	Rat
12879867	Cm95	Cardiac mass QTL 95		0.047	heart right ventricle mass (VT:0007033)	heart right ventricle weight to body weight ratio (CMO:0000914)	3	31426403	70668733	Rat
12879868	Am6	Aortic mass QTL 6		0.001	aorta mass (VT:0002845)	aorta weight to aorta length to body weight ratio (CMO:0002722)	3	31426403	70668733	Rat
2301400	Cm68	Cardiac mass QTL 68		0.001	heart mass (VT:0007028)	heart wet weight to body weight ratio (CMO:0002408)	3	31426403	70668733	Rat
1300169	Bp177	Blood pressure QTL 177	2.96		arterial blood pressure trait (VT:2000000)	blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)	3	33703347	61017857	Rat
1354589	Bw31	Body weight QTL 31	3.3		body mass (VT:0001259)	body weight (CMO:0000012)	3	33703347	78196190	Rat
1354604	Bw36	Body weight QTL 36	2.9		body mass (VT:0001259)	body weight (CMO:0000012)	3	33703347	104104347	Rat

Markers in Region

AI314967

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	34,708,811 - 34,709,040 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	35,783,674 - 35,783,902	NCBI	Rnor6.0
Rnor_5.0	3	40,897,452 - 40,897,680	UniSTS	Rnor5.0
RGSC_v3.4	3	31,224,295 - 31,224,523	UniSTS	RGSC3.4
Celera	3	32,888,024 - 32,888,253	UniSTS
Cytogenetic Map	3	q12	UniSTS

RH142327

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	3	34,708,887 - 34,709,079 (+)	MAPPER	mRatBN7.2
Rnor_6.0	3	35,783,750 - 35,783,941	NCBI	Rnor6.0
Rnor_5.0	3	40,897,528 - 40,897,719	UniSTS	Rnor5.0
RGSC_v3.4	3	31,224,371 - 31,224,562	UniSTS	RGSC3.4
Celera	3	32,888,100 - 32,888,291	UniSTS
RH 3.4 Map	3	415.4	UniSTS
Cytogenetic Map	3	q12	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	appendage
High
Medium	3	43	57	41	19	41	8	11	74	35	41	11	8
Low
Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001004280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006234158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	BC078953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH473983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ212704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ213711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ216239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ216405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ219117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ228704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FQ229971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JACYVU010000115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSRNOT00000066058 ⟹ ENSRNOP00000058814

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	3	34,708,650 - 34,726,771 (-)	Ensembl
Rnor_6.0 Ensembl	3	35,783,623 - 35,801,614 (-)	Ensembl

RefSeq Acc Id:

ENSRNOT00000083776 ⟹ ENSRNOP00000072504

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	3	34,708,649 - 34,722,941 (-)	Ensembl
Rnor_6.0 Ensembl	3	35,783,822 - 35,797,804 (-)	Ensembl

RefSeq Acc Id:

NM_001004280 ⟹ NP_001004280

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2	3	34,708,649 - 34,726,548 (-)	NCBI
Rnor_6.0	3	35,783,511 - 35,801,407 (-)	NCBI
Rnor_5.0	3	40,897,289 - 40,915,271 (-)	NCBI
RGSC_v3.4	3	31,224,132 - 31,242,473 (-)	RGD
Celera	3	32,887,861 - 32,905,961 (-)	RGD

Sequence:

show sequence

CCGCCATTTTGACAGTGGACGTGTTGAGGGACTGGATCAGCTGGCCGTGTGGTGACTGGGATAC
TTTGCAGAGGGGAAAAGTCTGCGTCCGCCTTCTTCACTAGAAATGGCCCATGTGCTCTGTAACA
GAGCCAGACTGGTTTCCTATCTCCCAGGATTTTGTTCTCTAGTGAAAAGAGTTATCAATCCAAG
AGCCTTTTCAACTGCAGGATCGTCAGGTTCCGATGAGTCTCACGTGGCCACTGCACCTCCAGAT
ATATGCTCTCGGACAGTGTGGCCTGATGAAACCATGGGACCCTTTGGACCTCAGGACCAGAGAT
TCCAGCTTCCTGGGAATATAGGCTTCGATTGTCACCTCAATGGGACAGCCTCACAGAAGAAAAG
CCAGGCCCATAAAACCTTGCCTGATGTTCTAGCAGAGCCTCTTTCAACCGAAAGGCACGAGTTT
GTGATGGCCCAGTATGTGAATGAGTTTCAGGATAGCAATGCACCTGTTGAGCAAGAGATCAGCA
GTGCAGAAACTTACTTTGAAAGTGCCAGAGTTGAGTGTGCCATCCAGACATGTCCCGAACTGCT
GCGGAGAGATTTTGAGTCACTTTTTCCAGAGGTGGCTAATAGCAAACTGATGATTCTGACTGTA
ACCCAGAAAACTGAACATGACATGACTGTCTGGAGTGAAGAGGTAGAAGTTGAGAGAGAGGCGC
TCTTGGAGAAGTTCATTAATGGTGCTAAGGAAATTTGCTATGCTCTTCGGGCTGAAGGATACTG
GGCTGACTTCATTGACCCGTCGTCTGGTTTGGCATTTTTTGGACCATATACAAACAACACACTT
TTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCTGTTGATGACCTTGGCTGCTGTAAGG
TGATCCGTCATGGTCTCTGGGGCACTCATGTGGTTGTGGGAAGTATCTTCACTAATGCAACAGC
AGACAGCCATATCATGAGGAAGCTCAGTGGGGACTAGCAGGTGACACTGTGACAATTGCAGCAC
TGTCTGTCCGCAACGGATTGCTCTATCATGGACCGCAGCTTCTAGACGATTCTTGTTTCTAGGT
ATTTATTTCATCATTTATGGGTTTACAGGGACAGGTGACTTGGGGTTTCAAAATTGCAAATGCT
AGTTCATATTCTGGAACATTGAACACATCCATATTATGAAAAATGAGATCATCAACTTGTAACC
AGGGTATGTGTGGTCTTTTAGTGTTAATTCTCCCCTTTATTGGGAAAATTTTAATTATTTTTTC
CAAAAATAAATCATACATTTGTCTATGAAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_006234158 ⟹ XP_006234220

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2	3	34,708,649 - 34,726,554 (-)	NCBI
Rnor_6.0	3	35,783,511 - 35,801,474 (-)	NCBI
Rnor_5.0	3	40,897,289 - 40,915,271 (-)	NCBI

Sequence:

show sequence

CGACCGACAGCATCGATGCGCTCGGAGGCAACTACTCAGGTCTGGGCGTCAACAGCGCCTGCCT
GGACCGCCATTTTGACAGTGGACGTGTTGAGGGACTGGATCAGCTGGCCGTGTGGTGACTGGTA
CGGATGGTTCCCACCCGCGGTCTCTTCTGCACTTTCACGGGTGACCGTGCCCCTGCTGTCGGGA
TACTTTGCAGAGGGGAAAAGTCTGCGTCCGCCTTCTTCACTAGAAATGGCCCATGTGCTCTGTA
ACAGAGCCAGACTGGTTTCCTATCTCCCAGGATTTTGTTCTCTAGTGAAAAGAGTTATCAATCC
AAGAGCCTTTTCAACTGCAGGATCGTCAGGTTCCGATGAGTCTCACGTGGCCACTGCACCTCCA
GATATATGCTCTCGGACAGTGTGGCCTGATGAAACCATGGGACCCTTTGGACCTCAGGACCAGA
GATTCCAGCTTCCTGGGAATATAGGCTTCGATTGTCACCTCAATGGGACAGCCTCACAGAAGAA
AAGCCAGGCCCATAAAACCTTGCCTGATGTTCTAGCAGAGCCTCTTTCAACCGAAAGGCACGAG
TTTGTGATGGCCCAGTATGTGAATGAGTTTCAGGATAGCAATGCACCTGTTGAGCAAGAGATCA
GCAGTGCAGAAACTTACTTTGAAAGTGCCAGAGTTGAGTGTGCCATCCAGACATGTCCCGAACT
GCTGCGGAGAGATTTTGAGTCACTTTTTCCAGAGGTGGCTAATAGCAAACTGATGATTCTGACT
GTAACCCAGAAAACTGAACATGACATGACTGTCTGGAGTGAAGAGGTAGAAGTTGAGAGAGAGG
CGCTCTTGGAGAAGTTCATTAATGGTGCTAAGGAAATTTGCTATGCTCTTCGGGCTGAAGGATA
CTGGGCTGACTTCATTGACCCGTCGTCTGGTTTGGCATTTTTTGGACCATATACAAACAACACA
CTTTTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCTGTTGATGACCTTGGCTGCTGTA
AGGTGATCCGTCATGGTCTCTGGGGCACTCATGTGGTTGTGGGAAGTATCTTCACTAATGCAAC
AGCAGACAGCCATATCATGAGGAAGCTCAGTGGGGACTAGCAGGTGACACTGTGACAATTGCAG
CACTGTCTGTCCGCAACGGATTGCTCTATCATGGACCGCAGCTTCTAGACGATTCTTGTTTCTA
GGTATTTATTTCATCATTTATGGGTTTACAGGGACAGGTGACTTGGGGTTTCAAAATTGCAAAT
GCTAGTTCATATTCTGGAACATTGAACACATCCATATTATGAAAAATGAGATCATCAACTTGTA
ACCAGGGTATGTGTGGTCTTTTAGTGTTAATTCTCCCCTTTATTGGGAAAATTTTAATTATTTT
TTCCAAAAATAAATCATACATTTGTCTATGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001004280	(Get FASTA)	NCBI Sequence Viewer
	XP_006234220	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH78953	(Get FASTA)	NCBI Sequence Viewer
	EDM00456	(Get FASTA)	NCBI Sequence Viewer
	EDM00457	(Get FASTA)	NCBI Sequence Viewer
	EDM00458	(Get FASTA)	NCBI Sequence Viewer
	EDM00459	(Get FASTA)	NCBI Sequence Viewer
	Q6AYQ6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001004280 ⟸ NM_001004280
- Peptide Label:	precursor
- UniProtKB:	Q6AYQ6 (UniProtKB/Swiss-Prot), A6JF02 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAHVLCNRARLVSYLPGFCSLVKRVINPRAFSTAGSSGSDESHVATAPPDICSRTVWPDETMGP FGPQDQRFQLPGNIGFDCHLNGTASQKKSQAHKTLPDVLAEPLSTERHEFVMAQYVNEFQDSNA PVEQEISSAETYFESARVECAIQTCPELLRRDFESLFPEVANSKLMILTVTQKTEHDMTVWSEE VEVEREALLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSV DDLGCCKVIRHGLWGTHVVVGSIFTNATADSHIMRKLSGD hide sequence

RefSeq Acc Id:	XP_006234220 ⟸ XM_006234158
- Peptide Label:	isoform X1
- UniProtKB:	Q6AYQ6 (UniProtKB/Swiss-Prot), A6JF02 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRSEATTQVWASTAPAWTAILTVDVLRDWISWPCGDWYGWFPPAVSSALSRVTVPLLSGYFAEG KSLRPPSSLEMAHVLCNRARLVSYLPGFCSLVKRVINPRAFSTAGSSGSDESHVATAPPDICSR TVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSQAHKTLPDVLAEPLSTERHEFVMAQ YVNEFQDSNAPVEQEISSAETYFESARVECAIQTCPELLRRDFESLFPEVANSKLMILTVTQKT EHDMTVWSEEVEVEREALLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETD ERYRHLGFSVDDLGCCKVIRHGLWGTHVVVGSIFTNATADSHIMRKLSGD hide sequence

RefSeq Acc Id:

ENSRNOP00000058814 ⟸ ENSRNOT00000066058

RefSeq Acc Id:

ENSRNOP00000072504 ⟸ ENSRNOT00000083776

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6AYQ6-F1-model_v2	AlphaFold	Q6AYQ6	1-296	view protein structure

Transcriptome

eQTL		View at Phenogen
WGCNA		View at Phenogen
Tissue/Strain Expression		View at Phenogen

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	RGD:1303272	AgrOrtholog
BioCyc Gene	G2FUF-49752	BioCyc
Ensembl Genes	ENSRNOG00000004740	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein	ENSRNOP00000058814.2	UniProtKB/TrEMBL
	ENSRNOP00000072504	ENTREZGENE
	ENSRNOP00000072504.2	UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000066058.3	UniProtKB/TrEMBL
	ENSRNOT00000083776	ENTREZGENE
	ENSRNOT00000083776.2	UniProtKB/TrEMBL
IMAGE_CLONE	IMAGE:7110154	IMAGE-MGC_LOAD
InterPro	MMADHC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	rno:362134	UniProtKB/Swiss-Prot
MGC_CLONE	MGC:93805	IMAGE-MGC_LOAD
NCBI Gene	362134	ENTREZGENE
PANTHER	COBALAMIN TRAFFICKING PROTEIN CBLD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR13192	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	MMADHC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen	Mmadhc	PhenoGen
UniProt	A0A0G2K352_RAT	UniProtKB/TrEMBL
	A0A8L2QRQ4_RAT	UniProtKB/TrEMBL
	A6JF02	ENTREZGENE, UniProtKB/TrEMBL
	MMAD_RAT	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-08-15	Mmadhc	metabolism of cobalamin associated D	Mmadhc	methylmalonic aciduria and homocystinuria, cblD type	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2016-01-13	Mmadhc	methylmalonic aciduria and homocystinuria, cblD type	Mmadhc	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2009-06-12	Mmadhc	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	RGD1303272	similar to RIKEN cDNA 2010311D03	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2005-11-17	RGD1303272	similar to RIKEN cDNA 2010311D03	MGC93805		Symbol updated	1299863	APPROVED
2005-09-30	MGC93805				Symbol and Name status set to provisional	70820	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM