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ALDH1L2 (aldehyde dehydrogenase 1 family member L2)

Identity

Alias (NCBI)mtFDH
HGNC (Hugo) ALDH1L2
HGNC Alias symbFLJ38508
mtFDH
HGNC Alias namemitochondrial 10-formyltetrahydrofolate dehydrogenase
HGNC Previous namealdehyde dehydrogenase 1 family, member L2
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    aldehyde dehydrogenase 1 family member L2
AliasesmtFDH
GeneCards (Weizmann)ALDH1L2
Ensembl hg19 (Hinxton)ENSG00000136010 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136010 [Gene_View]  ENSG00000136010 [Sequence]  chr12:105019784-105084563 [Contig_View]  ALDH1L2 [Vega]
ICGC DataPortalENSG00000136010
TCGA cBioPortalALDH1L2
AceView (NCBI)ALDH1L2
Genatlas (Paris)ALDH1L2
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)
GoldenPathALDH1L2 - 12q23.3 [CytoView hg19]  ALDH1L2 - 12q23.3 [CytoView hg38]
ImmunoBaseENSG00000136010
genome Data Viewer NCBIALDH1L2 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000136010
Gene ExpressionALDH1L2 [ NCBI-GEO ]   ALDH1L2 [ EBI - ARRAY_EXPRESS ]   ALDH1L2 [ SEEK ]   ALDH1L2 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1L2 [ Firebrowse - Broad ]
GenevisibleExpression of ALDH1L2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)160428
GTEX Portal (Tissue expression)ALDH1L2
Human Protein AtlasENSG00000136010-ALDH1L2 [pathology]   [cell]   [tissue]
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 ]   [ MEROPS ]
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    ACP-like_sf    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_trans_C_sf    Formyl_transf_N    Formyl_transf_N_sf    Formyl_transferase-like_C_sf    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
Blocks (Seattle)ALDH1L2
SuperfamilyQ3SY69
Human Protein Atlas [tissue]ENSG00000136010-ALDH1L2 [tissue]
Peptide AtlasQ3SY69
HPRD18742
IPIIPI00298308   IPI00878398   IPI00878818   IPI01022059   
Protein Interaction databases
DIP (DOE-UCLA)Q3SY69
IntAct (EBI)Q3SY69
BioGRIDALDH1L2
STRING (EMBL)ALDH1L2
ZODIACALDH1L2
Ontologies - Pathways
QuickGOQ3SY69
Ontology : AmiGOaldehyde dehydrogenase (NAD) activity  nucleoplasm  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  nucleoplasm  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  
NDEx NetworkALDH1L2
Atlas of Cancer Signalling NetworkALDH1L2
Wikipedia pathwaysALDH1L2
Orthology - Evolution
OrthoDB160428
GeneTree (enSembl)ENSG00000136010
Phylogenetic Trees/Animal Genes : TreeFamALDH1L2
HOGENOMQ3SY69
Homologs : HomoloGeneALDH1L2
Homology/Alignments : Family Browser (UCSC)ALDH1L2
Gene fusions - Rearrangements
Fusion : QuiverALDH1L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1L2 [hg38]
dbVarALDH1L2
ClinVarALDH1L2
MonarchALDH1L2
1000_GenomesALDH1L2 
Exome Variant ServerALDH1L2
GNOMAD BrowserENSG00000136010
Varsome BrowserALDH1L2
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]  
Somatic Mutations in Cancer : COSMIC3DALDH1L2
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613584   
Orphanet
DisGeNETALDH1L2
MedgenALDH1L2
Genetic Testing Registry ALDH1L2
NextProtQ3SY69 [Medical]
GENETestsALDH1L2
Target ValidationALDH1L2
Huge Navigator ALDH1L2 [HugePedia]
ClinGenALDH1L2
Clinical trials, drugs, therapy
MyCancerGenomeALDH1L2
Protein Interactions : CTD
Pharm GKB GenePA134928545
Clinical trialALDH1L2
Miscellaneous
canSAR (ICR)ALDH1L2 (select the gene name)
HarmonizomeALDH1L2
DataMed IndexALDH1L2
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1L2
EVEXALDH1L2
GoPubMedALDH1L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:45:29 CET 2020

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