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MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria)

Identity

Other namesC2orf25
CL25022
cblD
HGNC (Hugo) MMADHC
LocusID (NCBI) 27249
Location 2q23.2
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
Entrez_Gene (NCBI)MMADHC  27249  methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Cards
GeneCards (Weizmann)MMADHC
Ensembl (Hinxton)ENSG00000168288 [Gene_View]  chr2:150426147-150444330 [Contig_View]  MMADHC [Vega]
AceView (NCBI)MMADHC
Genatlas (Paris)MMADHC
SOURCE (Stanford)NM_015702
Genomic and cartography
GoldenPath (UCSC)MMADHC  -  2q23.2   chr2:150426147-150444330 -  2q23.2   [Description]    (hg19-Feb_2009)
EnsemblMMADHC - 2q23.2 [CytoView]
Mapping of homologs : NCBIMMADHC [Mapview]
OMIM277410   611935   
Gene and transcription
Genbank (Entrez)AA857973 AF060224 AF131802 AF161510 AK310001
RefSeq transcript (SRS)NM_015702
RefSeq transcript (Entrez)NM_015702
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_009189 NT_005403 NW_001838860 NW_004078008
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_009189 NT_005403 NW_001838860 NW_004078008
Consensus coding sequences : CCDS (NCBI)MMADHC
Cluster EST : UnigeneHs.5324 [ SRS ] Hs.5324 [ NCBI ]
CGAP (NCI)Hs.5324
Alternative Splicing : Fast-db (Paris)GSHG0018055
Alternative Splicing GalleryENSG00000168288
Gene ExpressionMMADHC [ NCBI-GEO ]   MMADHC [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3L0 (SRS) Q9H3L0 (Uniprot)
NextProtQ9H3L0
With graphics : InterProQ9H3L0
Splice isoforms : SwissVarQ9H3L0(Swissvar)
Domains : Interpro (SRS)MMADHC   
Domains : Interpro (EBI)MMADHC   
Related proteins : CluSTrQ9H3L0
Domain families : Pfam (SRS)DUF2246 (PF10229)   
Domain families : Pfam (Sanger)DUF2246 (PF10229)   
Domain families : Pfam (NCBI)pfam10229   
DMDM27249
Blocks (Seattle)Q9H3L0
Human Protein AtlasENSG00000168288
HPRD10781
IPIIPI00024547   IPI00925999   IPI00926689   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3L0
IntAct (EBI)Q9H3L0
FunCoupENSG00000168288
REACTOMEMMADHC
Protein Interaction Database27249
BioGRIDMMADHC
InParanoidQ9H3L0
Interologous Interaction database Q9H3L0
IntegromeDBMMADHC
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MMADHC
SNP (GeneSNP Utah)MMADHC
SNP : HGBaseMMADHC
Genetic variants : HAPMAPMMADHC
Somatic Mutations in Cancer : COSMICMMADHC 
CONAN: Copy Number AnalysisMMADHC 
Mutations and Diseases : HGMDMMADHC
OMIM277410    611935   
GENETests277410    611935   
Disease Genetic AssociationMMADHC
Huge Navigator MMADHC [HugePedia]  MMADHC [HugeCancerGEM]
Genomic VariantsMMADHC  MMADHC [DGVbeta]
snp3D : Map Gene to Disease27249
General knowledge
Homologs : HomoloGeneMMADHC
Homology/Alignments : Family Browser (UCSC)MMADHC
Phylogenetic Trees/Animal Genes : TreeFamMMADHC
Chemical/Protein Interactions : CTD27249
Chemical/Pharm GKB GenePA164723053
Clinical trialMMADHC
Cancer Resource (Charite)ENSG00000168288
Ontology : AmiGOmitochondrion  cobalamin metabolic process  
Ontology : EGO-EBImitochondrion  cobalamin metabolic process  
Other databases
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
PubGeneMMADHC
iHOPMMADHC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:44:13 CEST 2013
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