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ATXN7L3B Gene

protein-coding   GIFtS: 33
GCID: GC12P074931

Ataxin 7-Like 3B

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ataxin 7-Like 3B1 2
Putative Ataxin-7-Like Protein 3B2

External Ids:    HGNC: 379311   Entrez Gene: 5528892   Ensembl: ENSG000002537197   OMIM: 6155795   UniProtKB: Q96GX23   

Export aliases for ATXN7L3B gene to outside databases

Previous GC identifer: GC12P071980


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATXN7L3B Gene:
ATXN7L3B (ataxin 7-like 3B) is a protein-coding gene. An important paralog of this gene is ATXN7L3.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ATXN7L3B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ATXN7L3B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 12q21

ATXN7L3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN7L3B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P074931:  view genomic region     (about GC identifiers)

Start:
74,931,551 bp from pter      End:
74,935,232 bp from pter
Size:
3,682 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
speciation event 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

Explore proteomics data for ATXN7L3B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATXN7L3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001129734.1  
    ENSEMBL proteins: 
     ENSP00000430000  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96GX2

    UniProtKB/Swiss-Prot: A7L3B_HUMAN, Q96GX2
    Similarity: Belongs to the SGF11 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATXN7L3B

    miRNA
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    miRTarBase miRNAs that target ATXN7L3B:
    hsa-mir-769-3p (MIRT039074), hsa-mir-320a (MIRT044840), hsa-mir-497-5p (MIRT041190), hsa-mir-1301-3p (MIRT036024), hsa-mir-484 (MIRT042129), hsa-mir-320c (MIRT036177)

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    hsa-miR-3678-3p hsa-miR-607 hsa-miR-15a hsa-miR-489 hsa-miR-29a* hsa-miR-3612 hsa-miR-34c-5p hsa-miR-130a*
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATXN7L3B
    Interactions:

        Search GeneGlobe Interaction Network for ATXN7L3B

    1 Interacting protein for ATXN7L3B (Q96GX23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP22Q9UPT93I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATXN7L3B (A7L3B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATXN7L3B gene: 
    NM_001136262.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000519948(uc001sxd.4)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATXN7L3B (see all 77):
    hsa-miR-3678-3p hsa-miR-607 hsa-miR-15a hsa-miR-489 hsa-miR-29a* hsa-miR-3612 hsa-miR-34c-5p hsa-miR-130a*
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      QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L3B
      QuantiFast Probe-based Assays in human, mouse, rat ATXN7L3B

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATXN7L3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGATCAT
    ATXN7L3B Expression
    About this image

    ATXN7L3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN7L3B Protein Expression
        Custom PCR Arrays for ATXN7L3B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L3B

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATXN7L3B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn7l3b1 , 5 ataxin 7-like 3B1, 5 89.35(n)1
    93.81(a)1
      10 (60.92 cM)5
    3824231  NM_001033474.21  NP_001028646.21 
     1129254305 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    12(a)
    1 → many
    6(66680243-66698413)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-118b1.26
    atxn7l36
    ataxin 7-like 3
    23(a)
    12(a)
    many ↔ many
    many ↔ many
    12(11195050-11208784) ENSDARG00000079131
    3(19914994-19929921) ENSDARG00000029331
    fruit fly
    (Drosophila melanogaster)
    Insecta Sgf116
    Sgf11
    7(a)
    1 → many
    3L(18674137-18674936)


    ENSEMBL Gene Tree for ATXN7L3B (if available)
    TreeFam Gene Tree for ATXN7L3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATXN7L3B gene
    ATXN7L32  
    1 SIMAP similar gene for ATXN7L3B using alignment to 1 protein entry:     A7L3B_HUMAN:
    ATXN7L3

    Find genes that share paralogs with ATXN7L3B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATXN7L3B (see all 139)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111800981,2
    H--74776721(+) taagcG/Atgcag 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs21993461,2
    H--74776809(+) actaaT/CacaGT 1 -- us2k14Minor allele frequency- C:0.00NS EA 412
    rs1915254211,2
    --74776841(+) AGGCCG/TGGCAA 1 -- us2k10--------
    rs791373091,2
    C,F--74776861(+) TGCCTG/ATAATC 1 -- us2k13Minor allele frequency- A:0.10NA 124
    rs18706991,2
    C,A,H--74776891(+) ggcagG/Caggat 1 -- us2k112Minor allele frequency- C:0.01NA WA CSA EA 376
    rs21261361,2
    C,F,A,H--74776927(+) ATCTGG/TGGCAA 1 -- us2k110Minor allele frequency- T:0.28NS EA NA WA 776
    rs1123541861,2
    --74776973(+) AAAAAG/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs30315841,2
    C--74776981(+) aaaaa-/AA/AAA
    /AAAAAAA
    gaaaa
    2 -- us2k1 cds11NA 2
    rs26053811,2
    C,F,A,H--74777023(-) TACAGC/GGGTGC 1 -- us2k16Minor allele frequency- G:0.36NA CSA WA EA 363
    rs1399570171,2
    --74777264(+) CCTTTA/CATCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATXN7L3B (74931551 - 74935232 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATXN7L3B:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1456n71CNV Loss21882294
    nsv899292CNV Loss21882294
    nsv899296CNV Loss21882294
    nsv470303CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN7L3B

    (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.)
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    OMIM gene information: 615579    OMIM disorders: --


    Find genes that share disorders with ATXN7L3B           About GenesLikeMe

    Genetic Association Database (GAD): ATXN7L3B

    Export disorders for ATXN7L3B gene to outside databases

    (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)
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    PubMed articles for ATXN7L3B gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ATXN7L3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. (PubMed id 23475819)1 Rajakulendran S....Stewart H. (J. Neurol. Neurosurg. Psychiatr. 2013)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    4. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (BMC Med. Genet. 2007)
    5. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)4 Lunetta K.L....Murabito J.M. (BMC Med. Genet. 2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    8. Genome-wide survey for biologically functional pseudogenes. (PubMed id 16680195)2 Svensson O.... Lagergren J. (PLoS Comput. Biol. 2006)
    9. 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. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 552889 HGNC: 37931 Ensembl:ENSG00000253719 euGenes: HUgn552889 ECgene: ATXN7L3B
    H-InvDB: ATXN7L3B

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATXN7L3B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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