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Aliases for ATXN7L2 Gene

Aliases for ATXN7L2 Gene

  • Ataxin 7 Like 2 2 3 5
  • Ataxin 7-Like 2 2

External Ids for ATXN7L2 Gene

Previous GeneCards Identifiers for ATXN7L2 Gene

  • GC01P109738
  • GC01P110026
  • GC01P107919

Summaries for ATXN7L2 Gene

GeneCards Summary for ATXN7L2 Gene

ATXN7L2 (Ataxin 7 Like 2) is a Protein Coding gene. An important paralog of this gene is ATXN7.

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 ATXN7L2 Gene

Genomics for ATXN7L2 Gene

Regulatory Elements for ATXN7L2 Gene

Enhancers for ATXN7L2 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
GH01G109296 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.4 -184.4 -184441 4.4 PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 SLC30A9 ZNF766 ZNF263 ZHX2 SYPL2 MYBPHL ATXN7L2 SORT1 PSRC1
GH01G109368 2 FANTOM5 Ensembl ENCODE dbSUPER 6.3 -110.9 -110912 8.2 HDGF FOXA2 PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF2 ZNF766 CBX5 SYPL2 ENSG00000258634 RPL17P7 PRPF38B AMIGO1 ATXN7L2 SORT1 GC01P109313
GH01G109389 2 FANTOM5 Ensembl ENCODE dbSUPER 6.3 -89.0 -89021 10.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 SLC30A9 SP3 NFYC TBX21 MEF2D SYPL2 PSRC1 MYBPHL SARS AMIGO1 ATXN7L2 SORT1 TMEM167B GSTM3 GNAI3
GH01G109281 1.4 ENCODE dbSUPER 5.6 -200.5 -200487 3.0 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D ZNF610 PSRC1 AMIGO1 ATXN7L2 PIR46363
GH01G109423 1.1 ENCODE 6.3 -57.8 -57819 4.8 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 SYPL2 AMIGO1 GNAI3 ENSG00000258634 ATXN7L2 GC01M109421 PSMA5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATXN7L2 on UCSC Golden Path with GeneCards custom track

Promoters for ATXN7L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011089 521 1201 YBX1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 ZFP41

Genomic Location for ATXN7L2 Gene

Chromosome:
1
Start:
109,483,479 bp from pter
End:
109,492,804 bp from pter
Size:
9,326 bases
Orientation:
Plus strand

Genomic View for ATXN7L2 Gene

Genes around ATXN7L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN7L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN7L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7L2 Gene

Proteins for ATXN7L2 Gene

  • Protein details for ATXN7L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T6C5-AT7L2_HUMAN
    Recommended name:
    Ataxin-7-like protein 2
    Protein Accession:
    Q5T6C5

    Protein attributes for ATXN7L2 Gene

    Size:
    722 amino acids
    Molecular mass:
    77181 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATXN7L2 Gene

Post-translational modifications for ATXN7L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATXN7L2 Gene

Domains & Families for ATXN7L2 Gene

Protein Domains for ATXN7L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATXN7L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATXN7L2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ATXN7L2 Gene

Function for ATXN7L2 Gene

Phenotypes for ATXN7L2 Gene

genes like me logo Genes that share phenotypes with ATXN7L2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATXN7L2 Gene

Localization for ATXN7L2 Gene

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 ATXN7L2 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATXN7L2 Gene

Pathways & Interactions for ATXN7L2 Gene

SuperPathways for ATXN7L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATXN7L2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ATXN7L2 Gene

Transcripts for ATXN7L2 Gene

Unigene Clusters for ATXN7L2 Gene

Ataxin 7-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L2 Gene

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: -
SP6:

Relevant External Links for ATXN7L2 Gene

GeneLoc Exon Structure for
ATXN7L2
ECgene alternative splicing isoforms for
ATXN7L2

Expression for ATXN7L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN7L2 Gene

mRNA differential expression in normal tissues according to GTEx for ATXN7L2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for ATXN7L2 Gene

This gene is overexpressed in Bone (41.0), Pancreatic juice (14.0), and Heart (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATXN7L2 Gene



Protein tissue co-expression partners for ATXN7L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATXN7L2 Gene:

ATXN7L2

SOURCE GeneReport for Unigene cluster for ATXN7L2 Gene:

Hs.118248
genes like me logo Genes that share expression patterns with ATXN7L2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN7L2 Gene

Orthologs for ATXN7L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATXN7L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN7L2 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia ATXN7L2 34 35
  • 92.76 (n)
cow
(Bos Taurus)
Mammalia ATXN7L2 34 35
  • 91.27 (n)
rat
(Rattus norvegicus)
Mammalia Atxn7l2 34
  • 89.41 (n)
mouse
(Mus musculus)
Mammalia Atxn7l2 34 16 35
  • 89.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ATXN7L2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN7L2 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN7L2 35
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atxn7l2a 34 35
  • 72.34 (n)
atxn7l2b 35
  • 29 (a)
OneToMany
wufi32b11 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for ATXN7L2 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)
  • fruit fly (Drosophila melanogaster)
  • 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 ATXN7L2 Gene

ENSEMBL:
Gene Tree for ATXN7L2 (if available)
TreeFam:
Gene Tree for ATXN7L2 (if available)

Paralogs for ATXN7L2 Gene

Paralogs for ATXN7L2 Gene

(1) SIMAP similar genes for ATXN7L2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATXN7L2: view

Variants for ATXN7L2 Gene

Sequence variations from dbSNP and Humsavar for ATXN7L2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000033955 -- 109,484,232(+) CCCGC(C/G)CGCTC intron-variant, utr-variant-5-prime
rs1000233611 -- 109,487,560(+) AGTCT(C/T)CCGAA intron-variant, reference, synonymous-codon, utr-variant-5-prime
rs1000721964 -- 109,492,488(+) AAGGA(A/G)ATCAA intron-variant, upstream-variant-2KB
rs1000753328 -- 109,492,151(+) GGCCT(C/T)GAAGG intron-variant, upstream-variant-2KB
rs1000987062 -- 109,492,364(+) CTCCT(C/G)GGTTA intron-variant, upstream-variant-2KB

Variation tolerance for ATXN7L2 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN7L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN7L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATXN7L2 Gene

Disorders for ATXN7L2 Gene

Relevant External Links for ATXN7L2

Genetic Association Database (GAD)
ATXN7L2
Human Genome Epidemiology (HuGE) Navigator
ATXN7L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN7L2

No disorders were found for ATXN7L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN7L2 Gene

Publications for ATXN7L2 Gene

  1. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J. … Levinson D.F. (Mol. Psychiatry 2011) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ATXN7L2 Gene

Sources for ATXN7L2 Gene

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