C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000026766 Mmadhc 10090 - 2:50279881-50296801 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000102769 Mmadhc-001 50279881-50296717 protein_coding
  ENSMUST00000133768 Mmadhc-002 50287866-50296801 protein_coding
  ENSMUST00000134480 Mmadhc-004 50280350-50296687 processed_transcript
  ENSMUST00000140563 Mmadhc-005 50287853-50296676 processed_transcript
  ENSMUST00000144143 Mmadhc-007 50281141-50296681 protein_coding
  ENSMUST00000147345 Mmadhc-003 50279881-50296695 processed_transcript
  ENSMUST00000152948 Mmadhc-008 50281166-50289199 processed_transcript
  ENSMUST00000154254 Mmadhc-006 50281154-50296423 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000102769ENSMUST00000134480ENSMUST00000140563ENSMUST00000144143ENSMUST00000147345ENSMUST00000152948
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000102769 21.390±5.02 9.662±0.00 39.214±5.86 22.002±8.48 17.489±13.74 7.204±2.18 33.619±3.87 22.596±5.92 27.029±8.81 10.834±3.57 51.425±5.84 14.864±10.79 27.388±8.69 24.637±12.17
ENSMUST00000134480 N/A N/A N/A 12.503±0.00 N/A N/A N/A N/A N/A N/A N/A 26.705±0.00 35.763±11.89 116.691±0.00
ENSMUST00000140563 5.479±0.00 26.758±5.51 N/A N/A N/A N/A N/A N/A 8.757±0.00 N/A N/A N/A N/A N/A
ENSMUST00000144143 4.180±0.00 19.355±6.59 N/A N/A 12.875±2.63 11.796±2.75 N/A 4.515±0.00 7.109±2.43 7.431±1.98 N/A 17.046±3.59 9.615±1.64 N/A
ENSMUST00000147345 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 16.072±0.00
ENSMUST00000152948 N/A N/A N/A 31.153±0.00 N/A N/A N/A N/A N/A N/A N/A 65.248±0.00 74.288±10.37 50.349±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007E0 CIL_0007E0_0002 CGP 2:50066429-50296801
CIL_0007DZ CIL_0007DZ_0002 CGP 2:50279881-51149111

Gene Ontology
GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0005575 ND cellular_component
GO:0005739 IEA mitochondrion
GO:0008150 ND biological_process
GO:0009235 IEA cobalamin metabolic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000005870 mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Danio_rerio
ENSDARG00000041602 MMADHC (2 of 2) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Danio_rerio
ENSG00000168288 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Homo_sapiens

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