Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC45A2 (solute carrier family 45 member 2)

Identity

Other names1A1
AIM1
MATP
OCA4
SHEP5
HGNC (Hugo) SLC45A2
LocusID (NCBI) 51151
Atlas_Id 41306
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 33945972 and ends at 33984780 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AMACR (5p13.2) / SLC45A2 (5p13.2)SLC45A2 (5p13.2) / AMACR (5p13.2)SLC45A2 5p13.2 / AMACR 5p13.2

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Oculocutaneous Albinism

External links

Nomenclature
HGNC (Hugo)SLC45A2   16472
Cards
Entrez_Gene (NCBI)SLC45A2  51151  solute carrier family 45 member 2
Aliases1A1; AIM1; MATP; OCA4; 
SHEP5
GeneCards (Weizmann)SLC45A2
Ensembl hg19 (Hinxton)ENSG00000164175 [Gene_View]  chr5:33945972-33984780 [Contig_View]  SLC45A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164175 [Gene_View]  chr5:33945972-33984780 [Contig_View]  SLC45A2 [Vega]
ICGC DataPortalENSG00000164175
TCGA cBioPortalSLC45A2
AceView (NCBI)SLC45A2
Genatlas (Paris)SLC45A2
WikiGenes51151
SOURCE (Princeton)SLC45A2
Genomic and cartography
GoldenPath hg19 (UCSC)SLC45A2  -     chr5:33945972-33984780 -  5p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC45A2  -     5p13.2   [Description]    (hg38-Dec_2013)
EnsemblSLC45A2 - 5p13.2 [CytoView hg19]  SLC45A2 - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBISLC45A2 [Mapview hg19]  SLC45A2 [Mapview hg38]
OMIM227240   606202   606574   
Gene and transcription
Genbank (Entrez)AF172849 BC003597 BC064405 BQ677785 BU166522
RefSeq transcript (Entrez)NM_001012509 NM_001297417 NM_016180
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011691 NT_006576 NT_187551 NW_004929321
Consensus coding sequences : CCDS (NCBI)SLC45A2
Cluster EST : UnigeneHs.278962 [ NCBI ]
CGAP (NCI)Hs.278962
Alternative Splicing GalleryENSG00000164175
Gene ExpressionSLC45A2 [ NCBI-GEO ]   SLC45A2 [ EBI - ARRAY_EXPRESS ]   SLC45A2 [ SEEK ]   SLC45A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC45A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51151
GTEX Portal (Tissue expression)SLC45A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMX9 (Uniprot)
NextProtQ9UMX9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMX9
Splice isoforms : SwissVarQ9UMX9 (Swissvar)
PhosPhoSitePlusQ9UMX9
Domains : Interpro (EBI)MFS_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations51151
Blocks (Seattle)SLC45A2
SuperfamilyQ9UMX9
Human Protein AtlasENSG00000164175
Peptide AtlasQ9UMX9
HPRD05865
IPIIPI00299427   IPI00413233   IPI00219552   IPI00554732   IPI01019035   IPI00966810   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMX9
IntAct (EBI)Q9UMX9
FunCoupENSG00000164175
BioGRIDSLC45A2
STRING (EMBL)SLC45A2
ZODIACSLC45A2
Ontologies - Pathways
QuickGOQ9UMX9
Ontology : AmiGOvisual perception  sucrose:proton symporter activity  sucrose transport  integral component of membrane  melanosome membrane  melanin biosynthetic process  developmental pigmentation  response to stimulus  
Ontology : EGO-EBIvisual perception  sucrose:proton symporter activity  sucrose transport  integral component of membrane  melanosome membrane  melanin biosynthetic process  developmental pigmentation  response to stimulus  
NDEx NetworkSLC45A2
Atlas of Cancer Signalling NetworkSLC45A2
Wikipedia pathwaysSLC45A2
Orthology - Evolution
OrthoDB51151
GeneTree (enSembl)ENSG00000164175
Phylogenetic Trees/Animal Genes : TreeFamSLC45A2
Homologs : HomoloGeneSLC45A2
Homology/Alignments : Family Browser (UCSC)SLC45A2
Gene fusions - Rearrangements
Fusion: TCGASLC45A2 5p13.2 AMACR 5p13.2 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC45A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC45A2
dbVarSLC45A2
ClinVarSLC45A2
1000_GenomesSLC45A2 
Exome Variant ServerSLC45A2
ExAC (Exome Aggregation Consortium)SLC45A2 (select the gene name)
Genetic variants : HAPMAP51151
Genomic Variants (DGV)SLC45A2 [DGVbeta]
Mutations
ICGC Data PortalSLC45A2 
TCGA Data PortalSLC45A2 
Broad Tumor PortalSLC45A2
OASIS PortalSLC45A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC45A2 
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
BioMutasearch SLC45A2
DgiDB (Drug Gene Interaction Database)SLC45A2
DoCM (Curated mutations)SLC45A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC45A2 (select a term)
intoGenSLC45A2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:33945972-33984780  ENSG00000164175
CONAN: Copy Number AnalysisSLC45A2 
Mutations and Diseases : HGMDSLC45A2
OMIM227240    606202    606574   
MedgenSLC45A2
Genetic Testing Registry SLC45A2
NextProtQ9UMX9 [Medical]
TSGene51151
GENETestsSLC45A2
Huge Navigator SLC45A2 [HugePedia]
snp3D : Map Gene to Disease51151
BioCentury BCIQSLC45A2
ClinGenSLC45A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51151
Chemical/Pharm GKB GenePA134897756
Clinical trialSLC45A2
Miscellaneous
canSAR (ICR)SLC45A2 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC45A2
EVEXSLC45A2
GoPubMedSLC45A2
iHOPSLC45A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:13:46 CEST 2016

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