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SPG21 (spastic paraplegia 21 (autosomal recessive, Mast syndrome))

Identity

Alias_symbol (synonym)ACP33
GL010
BM-019
MAST
Other alias
HGNC (Hugo) SPG21
LocusID (NCBI) 51324
Atlas_Id 54664
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 65255362 and ends at 65281844 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CYP1A2 (15q24.1) / SPG21 (15q22.31)MALAT1 (11q13.1) / SPG21 (15q22.31)MIR548F1 (1q31.1) / SPG21 (15q22.31)
SPG21 (15q22.31) / NFE2L2 (2q31.2)

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) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)SPG21   20373
Cards
Entrez_Gene (NCBI)SPG21  51324  spastic paraplegia 21 (autosomal recessive, Mast syndrome)
AliasesACP33; BM-019; GL010; MAST
GeneCards (Weizmann)SPG21
Ensembl hg19 (Hinxton)ENSG00000090487 [Gene_View]  chr15:65255362-65281844 [Contig_View]  SPG21 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090487 [Gene_View]  chr15:65255362-65281844 [Contig_View]  SPG21 [Vega]
ICGC DataPortalENSG00000090487
TCGA cBioPortalSPG21
AceView (NCBI)SPG21
Genatlas (Paris)SPG21
WikiGenes51324
SOURCE (Princeton)SPG21
Genetics Home Reference (NIH)SPG21
Genomic and cartography
GoldenPath hg19 (UCSC)SPG21  -     chr15:65255362-65281844 -  15q22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG21  -     15q22.31   [Description]    (hg38-Dec_2013)
EnsemblSPG21 - 15q22.31 [CytoView hg19]  SPG21 - 15q22.31 [CytoView hg38]
Mapping of homologs : NCBISPG21 [Mapview hg19]  SPG21 [Mapview hg38]
OMIM248900   608181   
Gene and transcription
Genbank (Entrez)AA179262 AF208861 AF212231 AI161152 AK123725
RefSeq transcript (Entrez)NM_001127889 NM_001127890 NM_016630
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008992 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)SPG21
Cluster EST : UnigeneHs.242458 [ NCBI ]
CGAP (NCI)Hs.242458
Alternative Splicing GalleryENSG00000090487
Gene ExpressionSPG21 [ NCBI-GEO ]   SPG21 [ EBI - ARRAY_EXPRESS ]   SPG21 [ SEEK ]   SPG21 [ MEM ]
Gene Expression Viewer (FireBrowse)SPG21 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51324
GTEX Portal (Tissue expression)SPG21
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZD8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZD8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZD8
Splice isoforms : SwissVarQ9NZD8
PhosPhoSitePlusQ9NZD8
Domains : Interpro (EBI)AB_hydrolase    AB_hydrolase_1    Maspardin   
Domain families : Pfam (Sanger)Abhydrolase_1 (PF00561)   
Domain families : Pfam (NCBI)pfam00561   
Conserved Domain (NCBI)SPG21
DMDM Disease mutations51324
Blocks (Seattle)SPG21
SuperfamilyQ9NZD8
Human Protein AtlasENSG00000090487
Peptide AtlasQ9NZD8
HPRD10492
IPIIPI00010248   IPI00895915   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZD8
IntAct (EBI)Q9NZD8
FunCoupENSG00000090487
BioGRIDSPG21
STRING (EMBL)SPG21
ZODIACSPG21
Ontologies - Pathways
QuickGOQ9NZD8
Ontology : AmiGOprotein binding  cytoplasm  cytosol  endosome membrane  trans-Golgi network transport vesicle  CD4 receptor binding  intracellular membrane-bounded organelle  antigen receptor-mediated signaling pathway  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  endosome membrane  trans-Golgi network transport vesicle  CD4 receptor binding  intracellular membrane-bounded organelle  antigen receptor-mediated signaling pathway  
NDEx NetworkSPG21
Atlas of Cancer Signalling NetworkSPG21
Wikipedia pathwaysSPG21
Orthology - Evolution
OrthoDB51324
GeneTree (enSembl)ENSG00000090487
Phylogenetic Trees/Animal Genes : TreeFamSPG21
HOVERGENQ9NZD8
HOGENOMQ9NZD8
Homologs : HomoloGeneSPG21
Homology/Alignments : Family Browser (UCSC)SPG21
Gene fusions - Rearrangements
Fusion : MitelmanCYP1A2/SPG21 [15q24.1/15q22.31]  [t(15;15)(q22;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPG21 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG21
dbVarSPG21
ClinVarSPG21
1000_GenomesSPG21 
Exome Variant ServerSPG21
ExAC (Exome Aggregation Consortium)SPG21 (select the gene name)
Genetic variants : HAPMAP51324
Genomic Variants (DGV)SPG21 [DGVbeta]
DECIPHER (Syndromes)15:65255362-65281844  ENSG00000090487
CONAN: Copy Number AnalysisSPG21 
Mutations
ICGC Data PortalSPG21 
TCGA Data PortalSPG21 
Broad Tumor PortalSPG21
OASIS PortalSPG21 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPG21  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPG21
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 SPG21
DgiDB (Drug Gene Interaction Database)SPG21
DoCM (Curated mutations)SPG21 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPG21 (select a term)
intoGenSPG21
Cancer3DSPG21(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248900    608181   
Orphanet14712   
MedgenSPG21
Genetic Testing Registry SPG21
NextProtQ9NZD8 [Medical]
TSGene51324
GENETestsSPG21
Huge Navigator SPG21 [HugePedia]
snp3D : Map Gene to Disease51324
BioCentury BCIQSPG21
ClinGenSPG21
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51324
Chemical/Pharm GKB GenePA134921126
Clinical trialSPG21
Miscellaneous
canSAR (ICR)SPG21 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPG21
EVEXSPG21
GoPubMedSPG21
iHOPSPG21
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:20:38 CEST 2017

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