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MFSD2A (major facilitator superfamily domain containing 2A)

Identity

Alias_namesMFSD2
major facilitator superfamily domain containing 2
Alias_symbol (synonym)FLJ14490
Other aliasMCPH15
NLS1
HGNC (Hugo) MFSD2A
LocusID (NCBI) 84879
Atlas_Id 51513
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 39955112 and ends at 39969968 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)
CGA (6q14.3) / MFSD2A (1p34.2)CLEC16A (16p13.13) / MFSD2A (1p34.2)MFSD2A (1p34.2) / GOLGA8B (15q14)
MFSD2A (1p34.2) / LAPTM5 (1p35.2)MFSD2A (1p34.2) / MFSD2A (1p34.2)RLF (1p34.2) / MFSD2A (1p34.2)
ZFYVE26 (14q24.1) / MFSD2A (1p34.2)ZMPSTE24 (1p34.2) / MFSD2A (1p34.2)MFSD2A 1p34.2 / LAPTM5 1p35.2
RLF 1p34.2 / MFSD2A 1p34.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Lung: Translocations in Small Cell Carcinoma
RLF/MFSD2A (1p34)
ZMPSTE24/MFSD2A (1p34)
t(1;1)(p34;p35) MFSD2A/LAPTM5

External links

Nomenclature
HGNC (Hugo)MFSD2A   25897
Cards
Entrez_Gene (NCBI)MFSD2A  84879  major facilitator superfamily domain containing 2A
AliasesMCPH15; MFSD2; NLS1
GeneCards (Weizmann)MFSD2A
Ensembl hg19 (Hinxton)ENSG00000168389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168389 [Gene_View]  ENSG00000168389 [Sequence]  chr1:39955112-39969968 [Contig_View]  MFSD2A [Vega]
ICGC DataPortalENSG00000168389
TCGA cBioPortalMFSD2A
AceView (NCBI)MFSD2A
Genatlas (Paris)MFSD2A
WikiGenes84879
SOURCE (Princeton)MFSD2A
Genetics Home Reference (NIH)MFSD2A
Genomic and cartography
GoldenPath hg38 (UCSC)MFSD2A  -     chr1:39955112-39969968 +  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MFSD2A  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathMFSD2A - 1p34.2 [CytoView hg19]  MFSD2A - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000168389
Mapping of homologs : NCBIMFSD2A [Mapview hg19]  MFSD2A [Mapview hg38]
OMIM614397   616486   
Gene and transcription
Genbank (Entrez)AB073383 AF289609 AF370364 AK027396 AK074186
RefSeq transcript (Entrez)NM_001136493 NM_001287808 NM_001287809 NM_001349821 NM_001349822 NM_001349823 NM_032793
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MFSD2A
Cluster EST : UnigeneHs.655177 [ NCBI ]
CGAP (NCI)Hs.655177
Alternative Splicing GalleryENSG00000168389
Gene ExpressionMFSD2A [ NCBI-GEO ]   MFSD2A [ EBI - ARRAY_EXPRESS ]   MFSD2A [ SEEK ]   MFSD2A [ MEM ]
Gene Expression Viewer (FireBrowse)MFSD2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84879
GTEX Portal (Tissue expression)MFSD2A
Human Protein AtlasENSG00000168389-MFSD2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NA29   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NA29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NA29
Splice isoforms : SwissVarQ8NA29
PhosPhoSitePlusQ8NA29
Domains : Interpro (EBI)MFS_trans_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MFSD2A
DMDM Disease mutations84879
Blocks (Seattle)MFSD2A
SuperfamilyQ8NA29
Human Protein Atlas [tissue]ENSG00000168389-MFSD2A [tissue]
Peptide AtlasQ8NA29
HPRD07861
IPIIPI00410391   IPI00647701   IPI00827704   IPI00979082   IPI00514313   
Protein Interaction databases
DIP (DOE-UCLA)Q8NA29
IntAct (EBI)Q8NA29
FunCoupENSG00000168389
BioGRIDMFSD2A
STRING (EMBL)MFSD2A
ZODIACMFSD2A
Ontologies - Pathways
QuickGOQ8NA29
Ontology : AmiGOtransporter activity  phospholipid transporter activity  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  phosphatidylcholine biosynthetic process  carbohydrate transport  fatty acid transmembrane transporter activity  symporter activity  fatty acid transport  hippocampus development  transcytosis  lysophospholipid transport  lysophospholipid transporter activity  lysophospholipid transporter activity  transmembrane transport  establishment of blood-brain barrier  organic substance transport  lipid transport across blood brain barrier  
Ontology : EGO-EBItransporter activity  phospholipid transporter activity  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  phosphatidylcholine biosynthetic process  carbohydrate transport  fatty acid transmembrane transporter activity  symporter activity  fatty acid transport  hippocampus development  transcytosis  lysophospholipid transport  lysophospholipid transporter activity  lysophospholipid transporter activity  transmembrane transport  establishment of blood-brain barrier  organic substance transport  lipid transport across blood brain barrier  
NDEx NetworkMFSD2A
Atlas of Cancer Signalling NetworkMFSD2A
Wikipedia pathwaysMFSD2A
Orthology - Evolution
OrthoDB84879
GeneTree (enSembl)ENSG00000168389
Phylogenetic Trees/Animal Genes : TreeFamMFSD2A
HOGENOMQ8NA29
Homologs : HomoloGeneMFSD2A
Homology/Alignments : Family Browser (UCSC)MFSD2A
Gene fusions - Rearrangements
Fusion : MitelmanMFSD2A/LAPTM5 [1p34.2/1p35.2]  
Fusion : MitelmanRLF/MFSD2A [1p34.2/1p34.2]  [t(1;1)(p34;p34)]  
Fusion : MitelmanZMPSTE24/MFSD2A [1p34.2/1p34.2]  [t(1;1)(p34;p34)]  
Fusion PortalMFSD2A 1p34.2 LAPTM5 1p35.2 LGG
Fusion PortalRLF 1p34.2 MFSD2A 1p34.2 OV
Fusion : QuiverMFSD2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFSD2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFSD2A
dbVarMFSD2A
ClinVarMFSD2A
1000_GenomesMFSD2A 
Exome Variant ServerMFSD2A
ExAC (Exome Aggregation Consortium)ENSG00000168389
GNOMAD BrowserENSG00000168389
Varsome BrowserMFSD2A
Genetic variants : HAPMAP84879
Genomic Variants (DGV)MFSD2A [DGVbeta]
DECIPHERMFSD2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMFSD2A 
Mutations
ICGC Data PortalMFSD2A 
TCGA Data PortalMFSD2A 
Broad Tumor PortalMFSD2A
OASIS PortalMFSD2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFSD2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMFSD2A
Mutations and Diseases : HGMDMFSD2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MFSD2A
DgiDB (Drug Gene Interaction Database)MFSD2A
DoCM (Curated mutations)MFSD2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFSD2A (select a term)
intoGenMFSD2A
Cancer3DMFSD2A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614397    616486   
Orphanet732   
DisGeNETMFSD2A
MedgenMFSD2A
Genetic Testing Registry MFSD2A
NextProtQ8NA29 [Medical]
TSGene84879
GENETestsMFSD2A
Target ValidationMFSD2A
Huge Navigator MFSD2A [HugePedia]
snp3D : Map Gene to Disease84879
BioCentury BCIQMFSD2A
ClinGenMFSD2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84879
Chemical/Pharm GKB GenePA165751549
Clinical trialMFSD2A
Miscellaneous
canSAR (ICR)MFSD2A (select the gene name)
DataMed IndexMFSD2A
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFSD2A
EVEXMFSD2A
GoPubMedMFSD2A
iHOPMFSD2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:53:21 CET 2019
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