Aliases for ATXN7L3B Gene

Aliases for ATXN7L3B Gene

  • Ataxin 7 Like 3B 2 3 5
  • Ataxin-7-Like Protein 3B 3 4
  • Lnc-SCA7 2 3
  • Putative Ataxin-7-Like Protein 3B 3
  • Ataxin 7-Like 3B 2
  • ATXN7L3B 5

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. Diseases associated with ATXN7L3B include Spinocerebellar Ataxia 7 and Cerebellar Ataxia Type 47. An important paralog of this gene is ATXN7L3.

UniProtKB/Swiss-Prot Summary for ATXN7L3B Gene

  • By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN7L3B Gene

Genomics for ATXN7L3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATXN7L3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J074536 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 267.8 +1.6 1566 6 BCLAF1 ZNF654 IKZF1 ZNF600 ZNF580 ZNF592 POLR2A NFIC CHD4 YY1 ATXN7L3B ENSG00000257386 LINC02882 GLIPR1 piR-32325-041 HSALNG0092434 KCNC2
GH12J074489 Enhancer 0.4 ENCODE 24.3 -47.4 -47403 1.6 ZNF24 SPI1 ZNF687 DPF2 ATXN7L3B HSALNG0092426 RF00005-052 HSALNG0092434
GH12J074042 Enhancer 0.9 Ensembl ENCODE 5.8 -494.4 -494388 1.7 JUND ZNF217 ELF1 CTBP1 CUX1 ZNF316 NFE2 TCF7L2 SMARCE1 FOXA1 ATXN7L3B LINC02394 piR-40476-022 LINC02882
GH12J074338 Enhancer 0.6 Ensembl ENCODE 7.1 -199.6 -199635 0.4 JUND FOSL2 FOS EP300 ATXN7L3B ENSG00000257183 LOC107987178 VENTXP3 LINC02882 HSALNG0092434
GH12J074619 Enhancer 0.4 ENCODE 10 +82.2 82211 0.1 CEBPB EP300 HLF LOC101929967 ATXN7L3B piR-32325-041 KCNC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN7L3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN7L3B

Genomic Locations for ATXN7L3B Gene

Latest Assembly
chr12:74,537,835-74,545,430
(GRCh38/hg38)
Size:
7,596 bases
Orientation:
Plus strand

Previous Assembly
chr12:74,931,615-74,939,210
(GRCh37/hg19 by Entrez Gene)
Size:
7,596 bases
Orientation:
Plus strand

chr12:74,931,551-74,935,223
(GRCh37/hg19 by Ensembl)
Size:
3,673 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:
    Ataxin-7-like protein 3B
    Protein Accession:
    Q96GX2

    Protein attributes for ATXN7L3B Gene

    Size:
    97 amino acids
    Molecular mass:
    10771 Da
    Quaternary structure:
    • Interacts strongly with ENY2. Interacts weakly with USP22.
    SequenceCaution:
    • Sequence=AAH09111.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • Encoded by an expressed retrotransposed copy of the ATXN7L3 locus that emerged prior to the speciation event separating primates and rodents.

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):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ATXN7L3B Gene

InterPro:

Suggested Antigen Peptide Sequences for ATXN7L3B Gene

GenScript: Design optimal peptide antigens:
  • Putative ataxin-7-like protein 3B (A7L3B_HUMAN)

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

Molecular function for ATXN7L3B Gene

UniProtKB/Swiss-Prot Function:
By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3.

Phenotypes From GWAS Catalog for ATXN7L3B Gene

Gene Ontology (GO) - Molecular Function for ATXN7L3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27601583
genes like me logo Genes that share ontologies with ATXN7L3B: view

miRNA for ATXN7L3B Gene

miRTarBase miRNAs that target ATXN7L3B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7L3B

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

Localization for ATXN7L3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN7L3B Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN7L3B gene
Compartment Confidence
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATXN7L3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 27601583
genes like me logo Genes that share ontologies with ATXN7L3B: view

Pathways & Interactions for ATXN7L3B Gene

PathCards logo

SuperPathways for ATXN7L3B Gene

No Data Available

Interacting Proteins for ATXN7L3B Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000430000 Q96GX2-A7L3B_HUMAN for ATXN7L3B Gene via STRING IID

Gene Ontology (GO) - Biological Process for ATXN7L3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010468 regulation of gene expression IEP 27601583
genes like me logo Genes that share ontologies with ATXN7L3B: view

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 :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7L3B

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

No ASD Table

Relevant External Links for ATXN7L3B Gene

GeneLoc Exon Structure for
ATXN7L3B

Expression for ATXN7L3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATXN7L3B 29 30
  • 94.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atxn7l3b 29
  • 92.78 (n)
Mouse
(Mus musculus)
Mammalia Atxn7l3b 29 16 30
  • 89.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATXN7L3B 29 30
  • 77.66 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATXN7L3B 30
  • 50 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 13 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 12 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118b1.2 30
  • 23 (a)
ManyToMany
atxn7l3 30
  • 12 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Sgf11 30
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10247 30
  • 6 (a)
OneToMany
Species where no ortholog for ATXN7L3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN7L3B: view image
Alliance of Genome Resources:
Additional Orthologs for ATXN7L3B

Paralogs for ATXN7L3B Gene

Paralogs for ATXN7L3B Gene

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

  • A7L3B_HUMAN
genes like me logo Genes that share paralogs with ATXN7L3B: view

Variants for ATXN7L3B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATXN7L3B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ATXN7L3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN7L3B
Leiden Open Variation Database (LOVD)
ATXN7L3B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN7L3B Gene

Disorders for ATXN7L3B Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATXN7L3B Gene - From: LNC and COP

Disorder Aliases PubMed IDs
spinocerebellar ataxia 7
  • sca7
cerebellar ataxia type 47
  • sca47
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

A7L3B_HUMAN
  • Note=A chromosomal aberration involving ATXN7L3B has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes the entire single exon of ATXN7L3B. {ECO:0000269 PubMed:23475819}.

Additional Disease Information for ATXN7L3B

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

No data available for Genatlas for ATXN7L3B Gene

Publications for ATXN7L3B Gene

  1. Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module. (PMID: 27601583) Li W … Dent SYR (Molecular and cellular biology 2016) 2 3 4
  2. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. (PMID: 25306109) Tan JY … Marques AC (Nature structural & molecular biology 2014) 2 3 72
  3. 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 4
  4. Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk. (PMID: 31797724) Leberfarb EY … Merkulova TI (Personalized medicine 2020) 3
  5. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3

Products for ATXN7L3B Gene

Sources for ATXN7L3B Gene