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ACSF2 (acyl-CoA synthetase family member 2)

Identity

Alias_symbol (synonym)FLJ20920
ACSMW
Other aliasAVYV493
HGNC (Hugo) ACSF2
LocusID (NCBI) 80221
Atlas_Id 54102
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50426158 and ends at 50474845 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACSF2 (17q21.33) / ANAPC16 (10q22.1)ACSF2 (17q21.33) / CYFIP1 (15q11.2)ACSF2 (17q21.33) / SPAG9 (17q21.33)
MED1 (17q12) / ACSF2 (17q21.33)ACSF2 17q21.33 / SPAG9 17q21.33

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)ACSF2   26101
Cards
Entrez_Gene (NCBI)ACSF2  80221  acyl-CoA synthetase family member 2
AliasesACSMW; AVYV493
GeneCards (Weizmann)ACSF2
Ensembl hg19 (Hinxton)ENSG00000167107 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167107 [Gene_View]  chr17:50426158-50474845 [Contig_View]  ACSF2 [Vega]
ICGC DataPortalENSG00000167107
TCGA cBioPortalACSF2
AceView (NCBI)ACSF2
Genatlas (Paris)ACSF2
WikiGenes80221
SOURCE (Princeton)ACSF2
Genetics Home Reference (NIH)ACSF2
Genomic and cartography
GoldenPath hg38 (UCSC)ACSF2  -     chr17:50426158-50474845 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACSF2  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblACSF2 - 17q21.33 [CytoView hg19]  ACSF2 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIACSF2 [Mapview hg19]  ACSF2 [Mapview hg38]
OMIM610465   
Gene and transcription
Genbank (Entrez)AK024573 AK225044 AK225561 AK294205 AK295258
RefSeq transcript (Entrez)NM_001288968 NM_001288969 NM_001288970 NM_001288971 NM_001288972 NM_025149
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACSF2
Cluster EST : UnigeneHs.288959 [ NCBI ]
CGAP (NCI)Hs.288959
Alternative Splicing GalleryENSG00000167107
Gene ExpressionACSF2 [ NCBI-GEO ]   ACSF2 [ EBI - ARRAY_EXPRESS ]   ACSF2 [ SEEK ]   ACSF2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACSF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80221
GTEX Portal (Tissue expression)ACSF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CM8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CM8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CM8
Splice isoforms : SwissVarQ96CM8
Catalytic activity : Enzyme6.2.1.- [ Enzyme-Expasy ]   6.2.1.-6.2.1.- [ IntEnz-EBI ]   6.2.1.- [ BRENDA ]   6.2.1.- [ KEGG ]   
PhosPhoSitePlusQ96CM8
Domaine pattern : Prosite (Expaxy)AMP_BINDING (PS00455)   
Domains : Interpro (EBI)AMP-bd_C    AMP-binding_CS    AMP-dep_Synth/Lig   
Domain families : Pfam (Sanger)AMP-binding (PF00501)    AMP-binding_C (PF13193)   
Domain families : Pfam (NCBI)pfam00501    pfam13193   
Conserved Domain (NCBI)ACSF2
DMDM Disease mutations80221
Blocks (Seattle)ACSF2
SuperfamilyQ96CM8
Human Protein AtlasENSG00000167107
Peptide AtlasQ96CM8
HPRD13380
IPIIPI00304071   IPI00967506   IPI00909579   IPI00966642   IPI01015394   IPI00967282   IPI00965237   IPI00966960   IPI00966138   IPI00967549   
Protein Interaction databases
DIP (DOE-UCLA)Q96CM8
IntAct (EBI)Q96CM8
FunCoupENSG00000167107
BioGRIDACSF2
STRING (EMBL)ACSF2
ZODIACACSF2
Ontologies - Pathways
QuickGOQ96CM8
Ontology : AmiGOacyl-CoA ligase activity  protein binding  ATP binding  mitochondrial matrix  fatty acid metabolic process  long-chain fatty-acyl-CoA biosynthetic process  
Ontology : EGO-EBIacyl-CoA ligase activity  protein binding  ATP binding  mitochondrial matrix  fatty acid metabolic process  long-chain fatty-acyl-CoA biosynthetic process  
NDEx NetworkACSF2
Atlas of Cancer Signalling NetworkACSF2
Wikipedia pathwaysACSF2
Orthology - Evolution
OrthoDB80221
GeneTree (enSembl)ENSG00000167107
Phylogenetic Trees/Animal Genes : TreeFamACSF2
HOVERGENQ96CM8
HOGENOMQ96CM8
Homologs : HomoloGeneACSF2
Homology/Alignments : Family Browser (UCSC)ACSF2
Gene fusions - Rearrangements
Fusion : MitelmanACSF2/SPAG9 [17q21.33/17q21.33]  
Fusion : MitelmanMED1/ACSF2 [17q12/17q21.33]  [t(17;17)(q12;q21)]  
Fusion: TCGAACSF2 17q21.33 SPAG9 17q21.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACSF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACSF2
dbVarACSF2
ClinVarACSF2
1000_GenomesACSF2 
Exome Variant ServerACSF2
ExAC (Exome Aggregation Consortium)ACSF2 (select the gene name)
Genetic variants : HAPMAP80221
Genomic Variants (DGV)ACSF2 [DGVbeta]
DECIPHERACSF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACSF2 
Mutations
ICGC Data PortalACSF2 
TCGA Data PortalACSF2 
Broad Tumor PortalACSF2
OASIS PortalACSF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACSF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACSF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACSF2
DgiDB (Drug Gene Interaction Database)ACSF2
DoCM (Curated mutations)ACSF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACSF2 (select a term)
intoGenACSF2
Cancer3DACSF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610465   
Orphanet
MedgenACSF2
Genetic Testing Registry ACSF2
NextProtQ96CM8 [Medical]
TSGene80221
GENETestsACSF2
Target ValidationACSF2
Huge Navigator ACSF2 [HugePedia]
snp3D : Map Gene to Disease80221
BioCentury BCIQACSF2
ClinGenACSF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80221
Chemical/Pharm GKB GenePA162375338
Clinical trialACSF2
Miscellaneous
canSAR (ICR)ACSF2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACSF2
EVEXACSF2
GoPubMedACSF2
iHOPACSF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:15 CEST 2017

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