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) type B homolog (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000029575 Mmab 10090 - 5:114431034-114444059 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000031560 Mmab-001 114431034-114444059 protein_coding
  ENSMUST00000112245 Mmab-003 114433200-114444021 protein_coding
  ENSMUST00000123256 Mmab-004 114434767-114443992 retained_intron
  ENSMUST00000150519 Mmab-002 114433278-114443982 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000031560ENSMUST00000112245ENSMUST00000123256ENSMUST00000150519
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000031560 9.301±4.23 11.436±3.42 5.381±0.31 4.489±0.65 7.680±0.61 4.926±1.00 9.060±1.64 7.083±0.65 8.716±2.95 4.047±0.68 13.330±0.56 4.166±0.96 2.901±2.21 0.473±0.24
ENSMUST00000112245 N/A 24.817±3.48 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENSMUST00000123256 N/A N/A N/A N/A N/A 2.853±0.00 N/A N/A N/A 2.616±0.00 N/A 3.972±0.30 1.623±0.38 0.667±0.00
ENSMUST00000150519 N/A 9.636±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000401 CIL_000401_0002 CGP 5:114380628-114444059
CIL_0001GN CIL_0001GN_0003 CGP 5:114431034-114460591

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005524 IEA ATP binding
GO:0005739 IDA mitochondrion
GO:0008817 ISO cob(I)yrinic acid a,c-diamide adenosyltransferase activity
GO:0009235 IC cobalamin metabolic process
GO:0009236 IEA cobalamin biosynthetic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000068344 mmab methylmalonic aciduria (cobalamin deficiency) cblB type protein_coding Danio_rerio
ENSG00000139428 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type protein_coding Homo_sapiens

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