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Aliases for ATXN7L3B Gene

Aliases for ATXN7L3B Gene

  • Ataxin 7 Like 3B 2 3 5
  • Putative Ataxin-7-Like Protein 3B 3
  • Ataxin 7-Like 3B 2
  • Lnc-SCA7 3

External Ids for ATXN7L3B Gene

Previous GeneCards Identifiers for ATXN7L3B Gene

  • GC12P074931
  • GC12P071980

Summaries for ATXN7L3B Gene

GeneCards Summary for ATXN7L3B Gene

ATXN7L3B (Ataxin 7 Like 3B) is a Protein Coding gene. An important paralog of this gene is ATXN7L3.

Additional gene information for ATXN7L3B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN7L3B Gene

Genomics for ATXN7L3B Gene

Regulatory Elements for ATXN7L3B Gene

Enhancers for ATXN7L3B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H074536 1.3 ENCODE dbSUPER 17.9 +1.8 1787 5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 REST ATXN7L3B LOC100507377 ENSG00000257386 LOC101929967
GH12H074489 0.8 Ensembl ENCODE 24.3 -47.3 -47339 1 ZNF687 DPF2 ZNF24 SPI1 ATXN7L3B LOC100507377
GH12H074619 0.5 ENCODE 10 +82.3 82275 0 GATA3 HLF CEBPB CEBPG EP300 ATXN7L3B LOC101929967 ENSG00000257386
GH12H074042 0.8 ENCODE 5.8 -494.3 -494325 1 CC2D1A CTBP1 GATA3 ZNF316 FOSL2 FOS NFE2 RCOR1 TCF7L2 NFE2L2 ATXN7L3B LINC02394 LOC100128674
GH12H074338 0.5 ENCODE 7.1 -199.6 -199646 0 FOSL1 JUND JUN FOSL2 FOS ATXN7L3B VENTXP3 LOC100507377
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATXN7L3B on UCSC Golden Path with GeneCards custom track

Promoters for ATXN7L3B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053994 230 2000 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3

Genomic Location for ATXN7L3B Gene

Chromosome:
12
Start:
74,537,771 bp from pter
End:
74,545,430 bp from pter
Size:
7,660 bases
Orientation:
Plus strand

Genomic View for ATXN7L3B Gene

Genes around ATXN7L3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN7L3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN7L3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7L3B Gene

Proteins for ATXN7L3B Gene

  • Protein details for ATXN7L3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GX2-A7L3B_HUMAN
    Recommended name:
    Putative ataxin-7-like protein 3B
    Protein Accession:
    Q96GX2

    Protein attributes for ATXN7L3B Gene

    Size:
    97 amino acids
    Molecular mass:
    10771 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded by an expressed retrotransposed copy of the ATXN7L3 locus that emerged prior to the speciation event separating primates and rodents.
    SequenceCaution:
    • Sequence=AAH09111.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

neXtProt entry for ATXN7L3B Gene

Post-translational modifications for ATXN7L3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN7L3B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATXN7L3B Gene

Domains & Families for ATXN7L3B Gene

Gene Families for ATXN7L3B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATXN7L3B Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ATXN7L3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GX2

UniProtKB/Swiss-Prot:

A7L3B_HUMAN :
  • Belongs to the SGF11 family.
Family:
  • Belongs to the SGF11 family.
genes like me logo Genes that share domains with ATXN7L3B: view

Function for ATXN7L3B Gene

Phenotypes From GWAS Catalog for ATXN7L3B Gene

Animal Model Products

CRISPR Products

miRNA for ATXN7L3B Gene

miRTarBase miRNAs that target ATXN7L3B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATXN7L3B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN7L3B Gene

Localization for ATXN7L3B Gene

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ATXN7L3B Gene

Pathways & Interactions for ATXN7L3B Gene

SuperPathways for ATXN7L3B Gene

No Data Available

Interacting Proteins for ATXN7L3B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000430000%0d%0a9606.ENSP00000261497%0d%0a
Selected Interacting proteins: Q96GX2-A7L3B_HUMAN ENSP00000430000 for ATXN7L3B Gene via IID STRING

Gene Ontology (GO) - Biological Process for ATXN7L3B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ATXN7L3B Gene

Drugs & Compounds for ATXN7L3B Gene

No Compound Related Data Available

Transcripts for ATXN7L3B Gene

mRNA/cDNA for ATXN7L3B Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN7L3B Gene

Ataxin 7-like 3B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATXN7L3B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L3B Gene

No ASD Table

Relevant External Links for ATXN7L3B Gene

GeneLoc Exon Structure for
ATXN7L3B
ECgene alternative splicing isoforms for
ATXN7L3B

Expression for ATXN7L3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN7L3B Gene

Protein differential expression in normal tissues from HIPED for ATXN7L3B Gene

This gene is overexpressed in Lung (22.9), Bone (12.2), Testis (11.7), and Pancreas (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATXN7L3B Gene



NURSA nuclear receptor signaling pathways regulating expression of ATXN7L3B Gene:

ATXN7L3B

SOURCE GeneReport for Unigene cluster for ATXN7L3B Gene:

Hs.744849
genes like me logo Genes that share expression patterns with ATXN7L3B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN7L3B Gene

Orthologs for ATXN7L3B Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN7L3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN7L3B 33 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia ATXN7L3B 33 34
  • 94.85 (n)
rat
(Rattus norvegicus)
Mammalia Atxn7l3b 33
  • 92.78 (n)
mouse
(Mus musculus)
Mammalia Atxn7l3b 33 16 34
  • 89.35 (n)
dog
(Canis familiaris)
Mammalia ATXN7L3B 33 34
  • 77.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN7L3B 34
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 13 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 12 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118b1.2 34
  • 23 (a)
ManyToMany
atxn7l3 34
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Sgf11 34
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10247 34
  • 6 (a)
OneToMany
Species where no ortholog for ATXN7L3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATXN7L3B Gene

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

Paralogs for ATXN7L3B Gene

Paralogs for ATXN7L3B Gene

(1) SIMAP similar genes for ATXN7L3B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ATXN7L3B: view

Variants for ATXN7L3B Gene

Sequence variations from dbSNP and Humsavar for ATXN7L3B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000971439 -- 74,537,396(+) CTTGC(A/G)CCATC upstream-variant-2KB
rs1001318867 -- 74,537,112(+) ATCAT(A/G)CATAT upstream-variant-2KB
rs1001431151 -- 74,537,131(+) GAAAA(A/T)TTTTA upstream-variant-2KB
rs1001545410 -- 74,536,809(+) TCCCA(A/T)GTAGC upstream-variant-2KB
rs1001761351 -- 74,541,128(+) TATCT(C/G)AGTGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATXN7L3B Gene

Variant ID Type Subtype PubMed ID
nsv470303 CNV gain 18288195

Variation tolerance for ATXN7L3B Gene

Gene Damage Index Score: 0.06; 1.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN7L3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN7L3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN7L3B Gene

Disorders for ATXN7L3B Gene

Relevant External Links for ATXN7L3B

Genetic Association Database (GAD)
ATXN7L3B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN7L3B

No disorders were found for ATXN7L3B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN7L3B Gene

Publications for ATXN7L3B Gene

  1. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. (PMID: 25306109) Tan JY … Marques AC (Nature structural & molecular biology 2014) 2 3 60
  2. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60
  3. Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module. (PMID: 27601583) Li W … Dent SY (Molecular and cellular biology 2016) 3 60
  4. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. (PMID: 24797263) Tong J … Moran MF (Molecular & cellular proteomics : MCP 2014) 3 60
  5. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. (PMID: 23475819) Rajakulendran S … Stewart H (Journal of neurology, neurosurgery, and psychiatry 2013) 3 60

Products for ATXN7L3B Gene

Sources for ATXN7L3B Gene

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