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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
Cards
Entrez_Gene (NCBI)MMADHC  27249  methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
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
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)AC_000134 NC_000002 NC_018913 NG_009189 NT_005403 NW_001838860 NW_004929305
Consensus coding sequences : CCDS (NCBI)MMADHC
Cluster EST : UnigeneHs.5324 [ NCBI ]
CGAP (NCI)Hs.5324
Alternative Splicing : Fast-db (Paris)GSHG0018055
Alternative Splicing GalleryENSG00000168288
Gene ExpressionMMADHC [ NCBI-GEO ]     MMADHC [ SEEK ]   MMADHC [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3L0 (Uniprot)
NextProtQ9H3L0  [Medical]
With graphics : InterProQ9H3L0
Splice isoforms : SwissVarQ9H3L0 (Swissvar)
Domains : Interpro (EBI)MMADHC   
Related proteins : CluSTrQ9H3L0
Domain families : Pfam (Sanger)DUF2246 (PF10229)   
Domain families : Pfam (NCBI)pfam10229   
DMDM Disease mutations27249
Blocks (Seattle)Q9H3L0
Human Protein AtlasENSG00000168288
Peptide AtlasQ9H3L0
HPRD10781
IPIIPI00024547   IPI00925999   IPI00926689   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3L0
IntAct (EBI)Q9H3L0
FunCoupENSG00000168288
BioGRIDMMADHC
IntegromeDBMMADHC
STRING (EMBL)MMADHC
Ontologies - Pathways
QuickGOQ9H3L0
Ontology : AmiGOmitochondrion  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  cobalamin metabolic process  small molecule metabolic process  
Ontology : EGO-EBImitochondrion  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  cobalamin metabolic process  small molecule metabolic process  
Protein Interaction DatabaseMMADHC
DoCM (Curated mutations)MMADHC
Wikipedia pathwaysMMADHC
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMMADHC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMADHC
dbVarMMADHC
ClinVarMMADHC
1000_GenomesMMADHC 
Exome Variant ServerMMADHC
SNP (GeneSNP Utah)MMADHC
SNP : HGBaseMMADHC
Genetic variants : HAPMAPMMADHC
Genomic VariantsMMADHC  MMADHC [DGVbeta]
Mutations
ICGC Data PortalENSG00000168288 
Somatic Mutations in Cancer : COSMICMMADHC 
CONAN: Copy Number AnalysisMMADHC 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:150426147-150444330
Mutations and Diseases : HGMDMMADHC
OMIM277410    611935   
MedgenMMADHC
NextProtQ9H3L0 [Medical]
GENETestsMMADHC
Disease Genetic AssociationMMADHC
Huge Navigator MMADHC [HugePedia]  MMADHC [HugeCancerGEM]
snp3D : Map Gene to Disease27249
DGIdb (Drug Gene Interaction db)MMADHC
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
Other databases
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
CoreMineMMADHC
GoPubMedMMADHC
iHOPMMADHC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:16:30 CET 2014

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