ATXN7L3B Gene
protein-coding GIFtS: 34
GCID: GC12P074931
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ataxin 7-like 3B
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Aliases
for ATXN7L3B 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 3B1 2 | | Putative Ataxin-7-Like Protein 3B2 |
Export aliases for ATXN7L3B gene to outside databasesPrevious GC identifer: GC12P071980 |
Summaries
for ATXN7L3B 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 ATXN7L3B 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_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for ATXN7L3B
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN7L3B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L3B |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q21 Ensembl cytogenetic band: 12q21.1 HGNC cytogenetic band: 12q21ATXN7L3B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P074931: view genomic region
(about GC identifiers)
Start:
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74,931,551 bp from pter |
End:
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74,935,232 bp from pter |
Size:
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3,682 bases |
Orientation:
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plus strand |
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Proteins
for ATXN7L3B 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: A7L3B_HUMAN, Q96GX2 (See
protein sequence)Recommended Name: Putative ataxin-7-like protein 3B Size: 97 amino acids; 10771 Da
Miscellaneous: Encoded by an expressed retrotransposed copy of the ATXN7L3 locus that emerged prior to the speciationevent separating primates and rodents
Sequence caution: Sequence=AAH09111.1; Type=Erroneous translation; Note=Wrong choice of CDS;Explore the universe of human proteins at neXtProt for ATXN7L3B: NX_Q96GX2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96GX2
ATXN7L3B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001129734.1
ENSEMBL proteins: ENSP00000430000
Human Recombinant Protein Products:
ATXN7L3B Antibody Products:
Assay Products for ATXN7L3B: |
Protein
Domains /
Families
for ATXN7L3B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q96GX2 UniProtKB/Swiss-Prot: A7L3B_HUMAN, Q96GX2Similarity: Belongs to the SGF11 family |
Function
for ATXN7L3B 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 ATXN7L3B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L3B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ATXN7L3B (NM_001136262) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN7L3B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3B |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3B |
|
Pathways & Interactions
for ATXN7L3B 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 ATXN7L3B
1 Interacting protein for ATXN7L3B (Q96GX23) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for ATXN7L3B 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 ATXN7L3B
Search CenterWatch for drugs/clinical trials and news about ATXN7L3B / A7L3B
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Transcripts
for ATXN7L3B 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 ATXN7L3B gene: NM_001136262.1 Unigene Cluster for ATXN7L3B: Ataxin 7-like 3B Hs.213541 [show with all ESTs]Unigene Representative Sequence: NM_0011362621 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000519948(uc001sxd.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L3B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L3B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATXN7L3B (NM_001136262) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN7L3B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3B |
Additional cDNA sequence: AF456479.1 AK054742.1 AK056642.1 AK095526.1 AL713650.2 BC009111.1 BX647460.2 10 DOTS entries: DT.91776388 DT.100837013 DT.100837015 DT.75182111 DT.100662733 DT.121107396 DT.121107402 DT.121107460 DT.40198086 DT.95087871
GeneLoc Exon Structure
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Expression
for ATXN7L3B 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
| ATXN7L3B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGGATCAT
About this image
See ATXN7L3B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN7L3B
SOURCE GeneReport for Unigene cluster: Hs.213541
SABiosciences Custom PCR Arrays for ATXN7L3B
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN7L3B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATXN7L3B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3B | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3B |
Orthologs
for ATXN7L3B 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
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This gene was present in the common ancestor of animals.
Orthologs for ATXN7L3B gene from 4/15 species (see all 15) About this table
ENSEMBL Gene Tree for ATXN7L3B (if available)
TreeFam Gene Tree for ATXN7L3B (if available) |
Paralogs
for ATXN7L3B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATXN7L3B gene
- ATXN7L32
1 SIMAP similar gene for ATXN7L3B using alignment to 1 protein entry: A7L3B_HUMAN:ATXN7L3
ATXN7L3B for paralogs About GeneDecksing
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Genomic Variants
for ATXN7L3B 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 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for ATXN7L3B (74931551 - 74935232 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN7L3B: -- | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for ATXN7L3B 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
| -- |
Publications
for ATXN7L3B 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 ATXN7L3B gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATXN7L3B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Genome-wide survey for biologically functional pseudogenes. (PubMed id 16680195)2 Svensson O....Lagergren J. (2006)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for ATXN7L3B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ATXN7L3B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN7L3B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN7L3B 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 ATXN7L3B | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for ATXN7L3B gene:
Search GeneIP for patents involving ATXN7L3B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN7L3B 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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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ATXN7L3B | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN7L3B | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN7L3B | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ATXN7L3B | | OriGene 3'-UTR Clone for ATXN7L3B | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L3B | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L3B | | | 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 ATXN7L3B | | OriGene Custom Protein Services for ATXN7L3B | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN7L3B | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7L3B | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L3B | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN7L3B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3B |
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 | | | ATXN7L3B Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3B |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L3B |
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