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MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)

Identity

Other namescblA
HGNC (Hugo) MMAA
LocusID (NCBI) 166785
Atlas_Id 41385
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 146540540 and ends at 146581187 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)MMAA   18871
Cards
Entrez_Gene (NCBI)MMAA  166785  methylmalonic aciduria (cobalamin deficiency) cblA type
AliasescblA
GeneCards (Weizmann)MMAA
Ensembl hg19 (Hinxton)ENSG00000151611 [Gene_View]  chr4:146540540-146581187 [Contig_View]  MMAA [Vega]
Ensembl hg38 (Hinxton)ENSG00000151611 [Gene_View]  chr4:146540540-146581187 [Contig_View]  MMAA [Vega]
ICGC DataPortalENSG00000151611
TCGA cBioPortalMMAA
AceView (NCBI)MMAA
Genatlas (Paris)MMAA
WikiGenes166785
SOURCE (Princeton)MMAA
Genomic and cartography
GoldenPath hg19 (UCSC)MMAA  -     chr4:146540540-146581187 +  4q31.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMAA  -     4q31.21   [Description]    (hg38-Dec_2013)
EnsemblMMAA - 4q31.21 [CytoView hg19]  MMAA - 4q31.21 [CytoView hg38]
Mapping of homologs : NCBIMMAA [Mapview hg19]  MMAA [Mapview hg38]
OMIM251100   607481   
Gene and transcription
Genbank (Entrez)AK094722 AK126662 BC101178 BC101179 BC101180
RefSeq transcript (Entrez)NM_172250
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_007536 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)MMAA
Cluster EST : UnigeneHs.452864 [ NCBI ]
CGAP (NCI)Hs.452864
Alternative Splicing GalleryENSG00000151611
Gene ExpressionMMAA [ NCBI-GEO ]   MMAA [ EBI - ARRAY_EXPRESS ]   MMAA [ SEEK ]   MMAA [ MEM ]
Gene Expression Viewer (FireBrowse)MMAA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166785
GTEX Portal (Tissue expression)MMAA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVH4 (Uniprot)
NextProtQ8IVH4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVH4
Splice isoforms : SwissVarQ8IVH4 (Swissvar)
Catalytic activity : Enzyme3.6.-.- [ Enzyme-Expasy ]   3.6.-.-3.6.-.- [ IntEnz-EBI ]   3.6.-.- [ BRENDA ]   3.6.-.- [ KEGG ]   
PhosPhoSitePlusQ8IVH4
Domains : Interpro (EBI)AAA+_ATPase    GTPase_ArgK    P-loop_NTPase   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations166785
Blocks (Seattle)MMAA
PDB (SRS)2WWW   
PDB (PDBSum)2WWW   
PDB (IMB)2WWW   
PDB (RSDB)2WWW   
Structural Biology KnowledgeBase2WWW   
SCOP (Structural Classification of Proteins)2WWW   
CATH (Classification of proteins structures)2WWW   
SuperfamilyQ8IVH4
Human Protein AtlasENSG00000151611
Peptide AtlasQ8IVH4
HPRD07394
IPIIPI01012901   IPI00217023   IPI01012884   IPI00967596   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVH4
IntAct (EBI)Q8IVH4
FunCoupENSG00000151611
BioGRIDMMAA
STRING (EMBL)MMAA
ZODIACMMAA
Ontologies - Pathways
QuickGOQ8IVH4
Ontology : AmiGOGTPase activity  GTP binding  mitochondrial matrix  cobalamin metabolic process  cobalamin biosynthetic process  short-chain fatty acid catabolic process  
Ontology : EGO-EBIGTPase activity  GTP binding  mitochondrial matrix  cobalamin metabolic process  cobalamin biosynthetic process  short-chain fatty acid catabolic process  
NDEx NetworkMMAA
Atlas of Cancer Signalling NetworkMMAA
Wikipedia pathwaysMMAA
Orthology - Evolution
OrthoDB166785
GeneTree (enSembl)ENSG00000151611
Phylogenetic Trees/Animal Genes : TreeFamMMAA
Homologs : HomoloGeneMMAA
Homology/Alignments : Family Browser (UCSC)MMAA
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMMAA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMAA
dbVarMMAA
ClinVarMMAA
1000_GenomesMMAA 
Exome Variant ServerMMAA
ExAC (Exome Aggregation Consortium)MMAA (select the gene name)
Genetic variants : HAPMAP166785
Genomic Variants (DGV)MMAA [DGVbeta]
Mutations
ICGC Data PortalMMAA 
TCGA Data PortalMMAA 
Broad Tumor PortalMMAA
OASIS PortalMMAA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMAA 
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 MMAA
DgiDB (Drug Gene Interaction Database)MMAA
DoCM (Curated mutations)MMAA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMAA (select a term)
intoGenMMAA
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:146540540-146581187  ENSG00000151611
CONAN: Copy Number AnalysisMMAA 
Mutations and Diseases : HGMDMMAA
OMIM251100    607481   
MedgenMMAA
Genetic Testing Registry MMAA
NextProtQ8IVH4 [Medical]
TSGene166785
GENETestsMMAA
Huge Navigator MMAA [HugePedia]
snp3D : Map Gene to Disease166785
BioCentury BCIQMMAA
ClinGenMMAA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166785
Chemical/Pharm GKB GenePA134912808
Clinical trialMMAA
Miscellaneous
canSAR (ICR)MMAA (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMAA
EVEXMMAA
GoPubMedMMAA
iHOPMMAA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Oct 1 16:04:58 CEST 2016

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