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MMADHC (methylmalonic aciduria and homocystinuria, cblD type)

Identity

Other namesC2orf25
CL25022
cblD
HGNC (Hugo) MMADHC
LocusID (NCBI) 27249
Atlas_Id 47505
Location 2q23.2  [Link to chromosome band 2q23]
Location_base_pair Starts at 150426147 and ends at 150444330 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MMADHC   25221
Cards
Entrez_Gene (NCBI)MMADHC  27249  methylmalonic aciduria and homocystinuria, cblD type
AliasesC2orf25; CL25022; cblD
GeneCards (Weizmann)MMADHC
Ensembl hg19 (Hinxton)ENSG00000168288 [Gene_View]  chr2:150426147-150444330 [Contig_View]  MMADHC [Vega]
Ensembl hg38 (Hinxton)ENSG00000168288 [Gene_View]  chr2:150426147-150444330 [Contig_View]  MMADHC [Vega]
ICGC DataPortalENSG00000168288
TCGA cBioPortalMMADHC
AceView (NCBI)MMADHC
Genatlas (Paris)MMADHC
WikiGenes27249
SOURCE (Princeton)MMADHC
Genomic and cartography
GoldenPath hg19 (UCSC)MMADHC  -     chr2:150426147-150444330 -  2q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMADHC  -     2q23.2   [Description]    (hg38-Dec_2013)
EnsemblMMADHC - 2q23.2 [CytoView hg19]  MMADHC - 2q23.2 [CytoView hg38]
Mapping of homologs : NCBIMMADHC [Mapview hg19]  MMADHC [Mapview hg38]
OMIM277410   611935   
Gene and transcription
Genbank (Entrez)AA857973 AF060224 AF131802 AF161510 AK310001
RefSeq transcript (Entrez)NM_015702
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_009189 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)MMADHC
Cluster EST : UnigeneHs.5324 [ NCBI ]
CGAP (NCI)Hs.5324
Alternative Splicing GalleryENSG00000168288
Gene ExpressionMMADHC [ NCBI-GEO ]   MMADHC [ EBI - ARRAY_EXPRESS ]   MMADHC [ SEEK ]   MMADHC [ MEM ]
Gene Expression Viewer (FireBrowse)MMADHC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27249
GTEX Portal (Tissue expression)MMADHC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3L0 (Uniprot)
NextProtQ9H3L0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3L0
Splice isoforms : SwissVarQ9H3L0 (Swissvar)
PhosPhoSitePlusQ9H3L0
Domains : Interpro (EBI)MMADHC   
Domain families : Pfam (Sanger)DUF2246 (PF10229)   
Domain families : Pfam (NCBI)pfam10229   
DMDM Disease mutations27249
Blocks (Seattle)MMADHC
PDB (SRS)5CUZ    5CV0   
PDB (PDBSum)5CUZ    5CV0   
PDB (IMB)5CUZ    5CV0   
PDB (RSDB)5CUZ    5CV0   
Structural Biology KnowledgeBase5CUZ    5CV0   
SCOP (Structural Classification of Proteins)5CUZ    5CV0   
CATH (Classification of proteins structures)5CUZ    5CV0   
SuperfamilyQ9H3L0
Human Protein AtlasENSG00000168288
Peptide AtlasQ9H3L0
HPRD10781
IPIIPI00024547   IPI00925999   IPI00926689   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3L0
IntAct (EBI)Q9H3L0
FunCoupENSG00000168288
BioGRIDMMADHC
STRING (EMBL)MMADHC
ZODIACMMADHC
Ontologies - Pathways
QuickGOQ9H3L0
Ontology : AmiGOmitochondrion  cytosol  cobalamin metabolic process  
Ontology : EGO-EBImitochondrion  cytosol  cobalamin metabolic process  
NDEx Network
Atlas of Cancer Signalling NetworkMMADHC
Wikipedia pathwaysMMADHC
Orthology - Evolution
OrthoDB27249
GeneTree (enSembl)ENSG00000168288
Phylogenetic Trees/Animal Genes : TreeFamMMADHC
Homologs : HomoloGeneMMADHC
Homology/Alignments : Family Browser (UCSC)MMADHC
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMMADHC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMADHC
dbVarMMADHC
ClinVarMMADHC
1000_GenomesMMADHC 
Exome Variant ServerMMADHC
ExAC (Exome Aggregation Consortium)MMADHC (select the gene name)
Genetic variants : HAPMAP27249
Genomic Variants (DGV)MMADHC [DGVbeta]
Mutations
ICGC Data PortalMMADHC 
TCGA Data PortalMMADHC 
Broad Tumor PortalMMADHC
OASIS PortalMMADHC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMADHC 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MMADHC
DgiDB (Drug Gene Interaction Database)MMADHC
DoCM (Curated mutations)MMADHC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMADHC (select a term)
intoGenMMADHC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:150426147-150444330  ENSG00000168288
CONAN: Copy Number AnalysisMMADHC 
Mutations and Diseases : HGMDMMADHC
OMIM277410    611935   
MedgenMMADHC
Genetic Testing Registry MMADHC
NextProtQ9H3L0 [Medical]
TSGene27249
GENETestsMMADHC
Huge Navigator MMADHC [HugePedia]
snp3D : Map Gene to Disease27249
BioCentury BCIQMMADHC
ClinGenMMADHC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27249
Chemical/Pharm GKB GenePA164723053
Clinical trialMMADHC
Miscellaneous
canSAR (ICR)MMADHC (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMADHC
EVEXMMADHC
GoPubMedMMADHC
iHOPMMADHC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:20:34 CEST 2016

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