Identity
HGNC
LOCATION
12q21.1
LOCUSID
ALIAS
lnc-SCA7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 552889
MIM: 615579
HGNC: 37931
Ensembl: ENSG00000253719
Variants:
dbSNP: 552889
ClinVar: 552889
TCGA: ENSG00000253719
COSMIC: ATXN7L3B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000253719 | ENST00000519948 | Q96GX2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34375763 | 2021 | ATXN7L3B promotes hepatocellular carcinoma stemness and is downregulated by metformin. | 2 |
| 34375763 | 2021 | ATXN7L3B promotes hepatocellular carcinoma stemness and is downregulated by metformin. | 2 |
| 31797724 | 2020 | Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk. | 3 |
| 32202298 | 2020 | Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. | 3 |
| 31797724 | 2020 | Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk. | 3 |
| 32202298 | 2020 | Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. | 3 |
| 27601583 | 2016 | Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module. | 8 |
| 27601583 | 2016 | Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module. | 8 |
| 23475819 | 2013 | Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. | 13 |
| 23475819 | 2013 | Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. | 13 |
Citation
Dessen P
ATXN7L3B (ataxin 7 like 3B)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54147/atxn7l3b-(ataxin-7-like-3b)
