ALS2CR12 Gene
protein-coding GIFtS: 46
GCID: GC02M202117
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amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...
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Aliases
for ALS2CR12 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate121 2 | | Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 12 Protein2 |
Export aliases for ALS2CR12 gene to outside databasesPrevious GC identifers: GC02M200370 GC02M200877 GC02M202355 GC02M201978 GC02M201861 GC02M194001 |
Summaries
for ALS2CR12 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for ALS2CR12 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ALS2CR12 gene promoter:
NF-YB NF-YA Nkx2-2 FOXO4 HFH-1 NF-YC CP1C NF-Y Nkx5-1 En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ALS2CR12
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2CR12 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33.1ALS2CR12 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M202117: view genomic region
(about GC identifiers)
Start:
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202,152,994 bp from pter |
End:
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202,222,121 bp from pter |
Size:
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69,128 bases |
Orientation:
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minus strand |
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Proteins
for ALS2CR12 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AL2SB_HUMAN, Q96Q35 (See
protein sequence)Recommended Name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein Size: 445 amino acids; 52439 Da
Secondary accessions: G5E9S3 Q53TT6 Q8N1B6Alternative splicing: 2 isoforms: Q96Q35-1 Q96Q35-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ALS2CR12: NX_Q96Q35
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96Q35
ALS2CR12 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001120863.1 NP_631902.2
ENSEMBL proteins: ENSP00000286190 ENSP00000402327 ENSP00000376086 ENSP00000412073 ENSP00000393945 ENSP00000407585 ENSP00000385098
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ALS2CR12 for ontologies About GeneDecksing
ALS2CR12 Antibody Products:
Assay Products for ALS2CR12: |
Protein
Domains /
Families
for ALS2CR12 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALS2CR12 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96Q35ProtoNet protein and cluster: Q96Q35 |
Function
for ALS2CR12 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ALS2CR12 (NM_001127391) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALS2CR12 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2CR12 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2CR12 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
ALS2CR12 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for ALS2CR12:
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Pathways & Interactions
for ALS2CR12 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALS2CR12
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for ALS2CR12 (Q96Q352, 3 ENSP000002861904) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0043087 | regulation of GTPase activity |
NAS | 11586298 |
ALS2CR12 for ontologies About GeneDecksing
|
Drugs & Compounds
for ALS2CR12 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ALS2CR12
Search CenterWatch for drugs/clinical trials and news about ALS2CR12 / AL2SB
|
Transcripts
for ALS2CR12 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ALS2CR12 gene (2 alternative transcripts): NM_001127391.1 NM_139163.2 Unigene Cluster for ALS2CR12: Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 Hs.107944 [show with all ESTs]Unigene Representative Sequence: AK12411510 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000286190 ENST00000415745 ENST00000494171(uc010fth.3) ENST00000392257
ENST00000439709 ENST00000494223 ENST00000425488 ENST00000448967 ENST00000418364
ENST00000405148(uc010ftg.3 uc002uya.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ALS2CR12 (NM_001127391) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALS2CR12 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2CR12 |
Additional cDNA sequence: AB053314.1 AK124115.1 AK292283.1 BC031603.1 4 DOTS entries: DT.101978982 DT.311054 DT.86840612 DT.100823826 19 AceView cDNA sequences: BX095441 AA971584 AA625673 BU680179 AI024941 CA311044 AA460280 AW663395 BU679637 BU674534 AA451790 AA453992 BG216937 AB053314 AI623725 NM_139163 AA451791 BC031603 AK124115
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ALS2CR12 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | · | 14c |
|---|
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| SP1: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | |
ECgene alternative splicing isoforms for ALS2CR12
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Expression
for ALS2CR12 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ALS2CR12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACAAGCCCT
About this image
See ALS2CR12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALS2CR12
SOURCE GeneReport for Unigene cluster: Hs.107944
SABiosciences Custom PCR Arrays for ALS2CR12
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALS2CR12
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ALS2CR12 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALS2CR12 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALS2CR12 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2CR12 |
Orthologs
for ALS2CR12 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for ALS2CR12 gene from 2/12 species (see all 12) About this table
ENSEMBL Gene Tree for ALS2CR12 (if available)
TreeFam Gene Tree for ALS2CR12 (if available) |
Paralogs
for ALS2CR12 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ALS2CR12 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ALS2CR12 (202152994 - 202222121 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ALS2CR12: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALS2CR12 |
|
Disorders
/ Diseases
for ALS2CR12 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ALS2CR12 for disorders About GeneDecksing
5  diseases for ALS2CR12: About MalaCardsamyotrophic lateral sclerosis lateral sclerosis chronic lymphocytic leukemia lymphocytic leukemia
leukemia
Human Genome Epidemiology (HuGE) Navigator: ALS2CR12 (5 documents)
Export disorders for ALS2CR12 gene to outside databases
|
Publications
for ALS2CR12 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ALS2CR12 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with ALS2CR12) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2 Hadano S....Ikeda J.-E. (2001)
- Genome-wide association study identifies three new mel anoma susceptibility loci. (PubMed id 21983787)1 Barrett J.H....Bishop D.T. (2011)
- Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1 Guey L.T....Malats N. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (2010)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
- Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1 Hosgood H.D....Lan Q. (2009)
- Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1 Ng D....Taylor P.R. (2008)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)
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External Searches for ALS2CR12 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing ALS2CR12 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ALS2CR12 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ALS2CR12 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ALS2CR12 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for ALS2CR12 gene:
Search GeneIP for patents involving ALS2CR12
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ALS2CR12 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ALS2CR12 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALS2CR12 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALS2CR12 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ALS2CR12 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALS2CR12 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ALS2CR12 | | OriGene Custom Protein Services for ALS2CR12 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALS2CR12 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALS2CR12 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALS2CR12 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALS2CR12 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALS2CR12 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALS2CR12 |
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 | | | ALS2CR12 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2CR12 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2CR12 |
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