Summary ?
GeneID27249
SymbolMMADHC
SynonymsC2orf25|CL25022|cblD
Descriptionmethylmalonic aciduria and homocystinuria, cblD type
ReferenceMIM:611935|HGNC:HGNC:25221|Ensembl:ENSG00000168288|HPRD:10781|Vega:OTTHUMG00000155558
Gene typeprotein-coding
Map location2q23.2
Pascal p-value0.017

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005739mitochondrionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
SEIDEN ONCOGENESIS BY MET 8853All SZGR 2.0 genes in this pathway
ALONSO METASTASIS UP 198128All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239156All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-409-5p2352411Ahsa-miR-409-5pAGGUUACCCGAGCAACUUUGCA