ATXN7L2 Gene
protein-coding GIFtS: 44
GCID: GC01P110026
|
|
ataxin 7-like 2
| |
Aliases
for ATXN7L2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ataxin 7-Like 21 2 | | FLJ003811 | | MGC465341 | | Ataxin 7-Like 12 | | Ataxin-7-Like Protein 22 |
Export aliases for ATXN7L2 gene to outside databasesPrevious GC identifers: GC01P109738 GC01P107919 |
Summaries
for ATXN7L2 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 ATXN7L2 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_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATXN7L2 gene promoter:
Oct-B1 E2F oct-B2 NRSF form 1 LyF-1 NRSF form 2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN7L2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p13.3 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13.2ATXN7L2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P110026: view genomic region
(about GC identifiers)
Start:
|
110,026,101 bp from pter |
End:
|
110,035,426 bp from pter |
Size:
|
9,326 bases |
Orientation:
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plus strand |
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Proteins
for ATXN7L2 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: AT7L2_HUMAN, Q5T6C5 (See
protein sequence)Recommended Name: Ataxin-7-like protein 2 Size: 722 amino acids; 77181 DaExplore the universe of human proteins at neXtProt for ATXN7L2: NX_Q5T6C5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5T6C5
ATXN7L2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_699171.3
ENSEMBL proteins: ENSP00000358886 ENSP00000358885
Human Recombinant Protein Products:
ATXN7L2 Antibody Products:
Assay Products for ATXN7L2: |
Protein
Domains /
Families
for ATXN7L2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATXN7L2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q5T6C5ProtoNet protein and cluster: Q5T6C5 UniProtKB/Swiss-Prot: AT7L2_HUMAN, Q5T6C5Similarity: Contains 1 SCA7 domain |
Function
for ATXN7L2 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 ATXN7L2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L2 |
|
Pathways & Interactions
for ATXN7L2 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 ATXN7L2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/7 Interacting proteins for ATXN7L2 (Q5T6C52, 3 ENSP000003588864) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
|
Drugs & Compounds
for ATXN7L2 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 ATXN7L2
Search CenterWatch for drugs/clinical trials and news about ATXN7L2 / AT7L2
|
Transcripts
for ATXN7L2 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 ATXN7L2 gene: NM_153340.4 Unigene Cluster for ATXN7L2: Ataxin 7-like 2 Hs.118248 [show with all ESTs]Unigene Representative Sequence: NM_1533405 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000463678 ENST00000369870(uc001dxr.3) ENST00000497545(uc001dxs.3)
ENST00000369869 ENST00000459635
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATXN7L2 (NM_153340) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN7L2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L2 |
Additional cDNA sequence: BC036849.1 5 DOTS entries: DT.95149347 DT.106819 DT.100751950 DT.40123905 DT.95149348 24/45 AceView cDNA sequences (see all 45): CR602365 AL545492 BM051488 BG819355 CR600667 BC036849 BQ055453 AI590576 NM_153340 BC037582 AI677640 BX375446 BX093216 CF137550 AI274369 BQ643122 BI489982 AW873529 AV652947 BI916395 AK090460 AI759974 AI304410 AI126703
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L2 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|
|
| SP1: | | | | | - | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | |
ECgene alternative splicing isoforms for ATXN7L2
|
Expression
for ATXN7L2 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
| ATXN7L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCTTAATG
About this image
See ATXN7L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN7L2
SOURCE GeneReport for Unigene cluster: Hs.118248
SABiosciences Custom PCR Arrays for ATXN7L2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN7L2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATXN7L2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7L2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L2 |
Orthologs
for ATXN7L2 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 animals.
Orthologs for ATXN7L2 gene from 3/14 species (see all 14) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
ATXN7L26 |
-- |
53(a) |
1 ↔ 1 |
4(105565948-105583684) |
zebrafish
(Danio rerio) |
Actinopterygii |
wufi32b112 |
Danio rerio cDNA clone IMAGE2639325, partial cds |
75.53(n) |
|
BC056808.1 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
18(a) |
1 → many |
Group2.11(691755-696425) |
ENSEMBL Gene Tree for ATXN7L2 (if available)
TreeFam Gene Tree for ATXN7L2 (if available) |
Paralogs
for ATXN7L2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATXN7L2 gene
- ATXN7L12 ATXN72
3 SIMAP similar genes for ATXN7L2 using alignment to 3 protein entries: AT7L2_HUMAN (see all proteins):FLJ00381 MGC33190 ATXN7L1
ATXN7L2 for paralogs About GeneDecksing
|
Genomic Variants
for ATXN7L2 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 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATXN7L2 (110026101 - 110035426 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN7L2: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7L2 |
|
Disorders
/ Diseases
for ATXN7L2 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
|
ATXN7L2 for disorders About GeneDecksing
3  diseases for ATXN7L2: About MalaCardsmajor depressive disorder kidney disease ataxia
Human Genome Epidemiology (HuGE) Navigator: ATXN7L2 (1 document)
Export disorders for ATXN7L2 gene to outside databases
|
Publications
for ATXN7L2 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 ATXN7L2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATXN7L2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Genome-wide association study of recurrent early-onse t major depressive disorder. (PubMed id 20125088)1 Shi J....Levinson D.F. (2010)
- New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (2010)
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
- A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
|
External Searches for ATXN7L2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATXN7L2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN7L2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN7L2 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 ATXN7L2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATXN7L2 gene:
Search GeneIP for patents involving ATXN7L2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN7L2 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
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN7L2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7L2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN7L2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7L2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L2 |
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| |  |  |  |  | | | | |
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 | | | ATXN7L2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L2 |
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