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
ENSG00000168288 MMADHC 9606 - 2:149569634-149587816 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000303319 MMADHC-006 149569634-149587816 protein_coding
  ENST00000422782 MMADHC-004 149569672-149587778 protein_coding
  ENST00000428879 MMADHC-001 149569644-149587602 protein_coding
  ENST00000460311 MMADHC-005 149586889-149587726 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000303319ENST00000422782ENST00000428879
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000303319 26.984±0.00 25.965±0.00 7.438±0.00 15.082±4.45 23.561±10.04 24.784±10.38 13.194±3.95 28.657±8.12 20.561±15.46 17.479±4.49 27.430±9.79 40.191±19.46 33.841±6.59 43.490±4.94
ENST00000422782 N/A N/A N/A N/A N/A N/A N/A N/A 10.290±0.00 N/A N/A N/A N/A N/A
ENST00000428879 N/A N/A N/A N/A N/A N/A N/A 4.990±0.00 N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007E0 CIL_0007E0_0001 CGP 2:149329985-149587816
CIL_0007DZ CIL_0007DZ_0001 CGP 2:149569634-150539011

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005739 IEA mitochondrion
GO:0005829 TAS cytosol
GO:0006766 TAS vitamin metabolic process
GO:0006767 TAS water-soluble vitamin metabolic process
GO:0009235 TAS:IEA cobalamin metabolic process
GO:0044281 TAS small molecule 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
ENSMUSG00000026766 Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein_coding Mus_musculus

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