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ALDH1L2 (aldehyde dehydrogenase 1 family member L2)

Identity

Alias_namesaldehyde dehydrogenase 1 family, member L2
Alias_symbol (synonym)FLJ38508
mtFDH
Other alias
HGNC (Hugo) ALDH1L2
LocusID (NCBI) 160428
Atlas_Id 60241
Location 12q23.3  [Link to chromosome band 12q23]
Location_base_pair Starts at 105019784 and ends at 105084563 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH1L2 (12q23.3) / DPPA4 (3q13.13)

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)ALDH1L2   26777
Cards
Entrez_Gene (NCBI)ALDH1L2  160428  aldehyde dehydrogenase 1 family member L2
AliasesmtFDH
GeneCards (Weizmann)ALDH1L2
Ensembl hg19 (Hinxton)ENSG00000136010 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136010 [Gene_View]  chr12:105019784-105084563 [Contig_View]  ALDH1L2 [Vega]
ICGC DataPortalENSG00000136010
TCGA cBioPortalALDH1L2
AceView (NCBI)ALDH1L2
Genatlas (Paris)ALDH1L2
WikiGenes160428
SOURCE (Princeton)ALDH1L2
Genetics Home Reference (NIH)ALDH1L2
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH1L2  -     chr12:105019784-105084563 -  12q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH1L2  -     12q23.3   [Description]    (hg19-Feb_2009)
EnsemblALDH1L2 - 12q23.3 [CytoView hg19]  ALDH1L2 - 12q23.3 [CytoView hg38]
Mapping of homologs : NCBIALDH1L2 [Mapview hg19]  ALDH1L2 [Mapview hg38]
OMIM613584   
Gene and transcription
Genbank (Entrez)AF086109 AK094088 AK095827 AK300373 BC103934
RefSeq transcript (Entrez)NM_001034173
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH1L2
Cluster EST : UnigeneHs.42572 [ NCBI ]
CGAP (NCI)Hs.42572
Alternative Splicing GalleryENSG00000136010
Gene ExpressionALDH1L2 [ NCBI-GEO ]   ALDH1L2 [ EBI - ARRAY_EXPRESS ]   ALDH1L2 [ SEEK ]   ALDH1L2 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160428
GTEX Portal (Tissue expression)ALDH1L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3SY69   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3SY69  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3SY69
Splice isoforms : SwissVarQ3SY69
Catalytic activity : Enzyme1.5.1.6 [ Enzyme-Expasy ]   1.5.1.61.5.1.6 [ IntEnz-EBI ]   1.5.1.6 [ BRENDA ]   1.5.1.6 [ KEGG ]   
PhosPhoSitePlusQ3SY69
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)    CARRIER (PS50075)    GART (PS00373)    PHOSPHOPANTETHEINE (PS00012)   
Domains : Interpro (EBI)10_FTHF_DH    Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_CS_GLU    Ald_DH_N    Aldehyde_DH_dom    Formyl_trans_C    Formyl_transf_N    Formyl_transferase_C-like    GART_AS    PP-bd_ACP    Ppantetheine_attach_site   
Domain families : Pfam (Sanger)Aldedh (PF00171)    Formyl_trans_C (PF02911)    Formyl_trans_N (PF00551)    PP-binding (PF00550)   
Domain families : Pfam (NCBI)pfam00171    pfam02911    pfam00551    pfam00550   
Conserved Domain (NCBI)ALDH1L2
DMDM Disease mutations160428
Blocks (Seattle)ALDH1L2
SuperfamilyQ3SY69
Human Protein AtlasENSG00000136010
Peptide AtlasQ3SY69
HPRD18742
IPIIPI00298308   IPI00878398   IPI00878818   IPI01022059   
Protein Interaction databases
DIP (DOE-UCLA)Q3SY69
IntAct (EBI)Q3SY69
FunCoupENSG00000136010
BioGRIDALDH1L2
STRING (EMBL)ALDH1L2
ZODIACALDH1L2
Ontologies - Pathways
QuickGOQ3SY69
Ontology : AmiGOaldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  biosynthetic process  10-formyltetrahydrofolate catabolic process  formyltetrahydrofolate dehydrogenase activity  hydroxymethyl-, formyl- and related transferase activity  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIaldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  biosynthetic process  10-formyltetrahydrofolate catabolic process  formyltetrahydrofolate dehydrogenase activity  hydroxymethyl-, formyl- and related transferase activity  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Pathways : KEGGOne carbon pool by folate   
NDEx NetworkALDH1L2
Atlas of Cancer Signalling NetworkALDH1L2
Wikipedia pathwaysALDH1L2
Orthology - Evolution
OrthoDB160428
GeneTree (enSembl)ENSG00000136010
Phylogenetic Trees/Animal Genes : TreeFamALDH1L2
HOVERGENQ3SY69
HOGENOMQ3SY69
Homologs : HomoloGeneALDH1L2
Homology/Alignments : Family Browser (UCSC)ALDH1L2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH1L2
dbVarALDH1L2
ClinVarALDH1L2
1000_GenomesALDH1L2 
Exome Variant ServerALDH1L2
ExAC (Exome Aggregation Consortium)ALDH1L2 (select the gene name)
Genetic variants : HAPMAP160428
Genomic Variants (DGV)ALDH1L2 [DGVbeta]
DECIPHERALDH1L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH1L2 
Mutations
ICGC Data PortalALDH1L2 
TCGA Data PortalALDH1L2 
Broad Tumor PortalALDH1L2
OASIS PortalALDH1L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH1L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH1L2
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ALDH1L2
DgiDB (Drug Gene Interaction Database)ALDH1L2
DoCM (Curated mutations)ALDH1L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH1L2 (select a term)
intoGenALDH1L2
Cancer3DALDH1L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613584   
Orphanet
MedgenALDH1L2
Genetic Testing Registry ALDH1L2
NextProtQ3SY69 [Medical]
TSGene160428
GENETestsALDH1L2
Target ValidationALDH1L2
Huge Navigator ALDH1L2 [HugePedia]
snp3D : Map Gene to Disease160428
BioCentury BCIQALDH1L2
ClinGenALDH1L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD160428
Chemical/Pharm GKB GenePA134928545
Clinical trialALDH1L2
Miscellaneous
canSAR (ICR)ALDH1L2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1L2
EVEXALDH1L2
GoPubMedALDH1L2
iHOPALDH1L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:37:51 CEST 2017

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