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ALS2CR12 (amyotrophic lateral sclerosis 2 chromosome region 12)

Identity

Alias_namesamyotrophic lateral sclerosis 2 (juvenile) chromosome region
Other alias-
HGNC (Hugo) ALS2CR12
LocusID (NCBI) 130540
Atlas_Id 55388
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 201288271 and ends at 201357398 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)
ALS2CR12 (2q33.1) / LRPPRC (2p21)CASP8 (2q33.1) / ALS2CR12 (2q33.1)FAM126B (2q33.1) / ALS2CR12 (2q33.1)
ORC2 (2q33.1) / ALS2CR12 (2q33.1)PPTC7 (12q24.11) / ALS2CR12 (2q33.1)CASP8 2q33.1 / ALS2CR12 2q33.1
FAM126B 2q33.1 / ALS2CR12 2q33.1ORC2 2q33.1 / ALS2CR12 2q33.1PPTC7 12q24.11 / ALS2CR12 2q33.1

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)ALS2CR12   14439
Cards
Entrez_Gene (NCBI)ALS2CR12  130540  amyotrophic lateral sclerosis 2 chromosome region 12
Aliases
GeneCards (Weizmann)ALS2CR12
Ensembl hg19 (Hinxton)ENSG00000155749 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155749 [Gene_View]  chr2:201288271-201357398 [Contig_View]  ALS2CR12 [Vega]
ICGC DataPortalENSG00000155749
TCGA cBioPortalALS2CR12
AceView (NCBI)ALS2CR12
Genatlas (Paris)ALS2CR12
WikiGenes130540
SOURCE (Princeton)ALS2CR12
Genetics Home Reference (NIH)ALS2CR12
Genomic and cartography
GoldenPath hg38 (UCSC)ALS2CR12  -     chr2:201288271-201357398 -  2q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALS2CR12  -     2q33.1   [Description]    (hg19-Feb_2009)
EnsemblALS2CR12 - 2q33.1 [CytoView hg19]  ALS2CR12 - 2q33.1 [CytoView hg38]
Mapping of homologs : NCBIALS2CR12 [Mapview hg19]  ALS2CR12 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB053314 AK124115 AK292283 BC031603 BX095441
RefSeq transcript (Entrez)NM_001127391 NM_001289993 NM_139163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALS2CR12
Cluster EST : UnigeneHs.107944 [ NCBI ]
CGAP (NCI)Hs.107944
Alternative Splicing GalleryENSG00000155749
Gene ExpressionALS2CR12 [ NCBI-GEO ]   ALS2CR12 [ EBI - ARRAY_EXPRESS ]   ALS2CR12 [ SEEK ]   ALS2CR12 [ MEM ]
Gene Expression Viewer (FireBrowse)ALS2CR12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)130540
GTEX Portal (Tissue expression)ALS2CR12
Human Protein AtlasENSG00000155749-ALS2CR12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96Q35   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96Q35  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96Q35
Splice isoforms : SwissVarQ96Q35
PhosPhoSitePlusQ96Q35
Domains : Interpro (EBI)ALS2CR12   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ALS2CR12
DMDM Disease mutations130540
Blocks (Seattle)ALS2CR12
SuperfamilyQ96Q35
Human Protein Atlas [tissue]ENSG00000155749-ALS2CR12 [tissue]
Peptide AtlasQ96Q35
HPRD12444
IPIIPI00044666   IPI00749257   IPI00926958   IPI00925341   IPI00927652   
Protein Interaction databases
DIP (DOE-UCLA)Q96Q35
IntAct (EBI)Q96Q35
FunCoupENSG00000155749
BioGRIDALS2CR12
STRING (EMBL)ALS2CR12
ZODIACALS2CR12
Ontologies - Pathways
QuickGOQ96Q35
Ontology : AmiGOouter dense fiber  molecular_function  protein binding  cellular_component  cytoplasm  sperm fibrous sheath  
Ontology : EGO-EBIouter dense fiber  molecular_function  protein binding  cellular_component  cytoplasm  sperm fibrous sheath  
NDEx NetworkALS2CR12
Atlas of Cancer Signalling NetworkALS2CR12
Wikipedia pathwaysALS2CR12
Orthology - Evolution
OrthoDB130540
GeneTree (enSembl)ENSG00000155749
Phylogenetic Trees/Animal Genes : TreeFamALS2CR12
HOVERGENQ96Q35
HOGENOMQ96Q35
Homologs : HomoloGeneALS2CR12
Homology/Alignments : Family Browser (UCSC)ALS2CR12
Gene fusions - Rearrangements
Fusion : MitelmanCASP8/ALS2CR12 [2q33.1/2q33.1]  [t(2;2)(q33;q33)]  
Fusion : MitelmanFAM126B/ALS2CR12 [2q33.1/2q33.1]  [t(2;2)(q33;q33)]  
Fusion : MitelmanORC2/ALS2CR12 [2q33.1/2q33.1]  [t(2;2)(q33;q33)]  
Fusion : MitelmanPPTC7/ALS2CR12 [12q24.11/2q33.1]  [t(2;12)(q33;q24)]  
Fusion: TCGACASP8 2q33.1 ALS2CR12 2q33.1 BRCA
Fusion: TCGAFAM126B 2q33.1 ALS2CR12 2q33.1 LUAD
Fusion: TCGAORC2 2q33.1 ALS2CR12 2q33.1 BRCA
Fusion: TCGAPPTC7 12q24.11 ALS2CR12 2q33.1 BRCA
Fusion: Tumor Portal ALS2CR12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALS2CR12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALS2CR12
dbVarALS2CR12
ClinVarALS2CR12
1000_GenomesALS2CR12 
Exome Variant ServerALS2CR12
ExAC (Exome Aggregation Consortium)ENSG00000155749
GNOMAD BrowserENSG00000155749
Genetic variants : HAPMAP130540
Genomic Variants (DGV)ALS2CR12 [DGVbeta]
DECIPHERALS2CR12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALS2CR12 
Mutations
ICGC Data PortalALS2CR12 
TCGA Data PortalALS2CR12 
Broad Tumor PortalALS2CR12
OASIS PortalALS2CR12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALS2CR12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALS2CR12
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 ALS2CR12
DgiDB (Drug Gene Interaction Database)ALS2CR12
DoCM (Curated mutations)ALS2CR12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALS2CR12 (select a term)
intoGenALS2CR12
Cancer3DALS2CR12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenALS2CR12
Genetic Testing Registry ALS2CR12
NextProtQ96Q35 [Medical]
TSGene130540
GENETestsALS2CR12
Target ValidationALS2CR12
Huge Navigator ALS2CR12 [HugePedia]
snp3D : Map Gene to Disease130540
BioCentury BCIQALS2CR12
ClinGenALS2CR12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD130540
Chemical/Pharm GKB GenePA24735
Clinical trialALS2CR12
Miscellaneous
canSAR (ICR)ALS2CR12 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALS2CR12
EVEXALS2CR12
GoPubMedALS2CR12
iHOPALS2CR12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:40:04 CET 2017

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