Gene Gene information from NCBI Gene database.
Entrez ID 552889
Gene name Ataxin 7 like 3B
Gene symbol ATXN7L3B
Synonyms (NCBI Gene)
lnc-SCA7
Chromosome 12
Chromosome location 12q21.1
miRNA miRNA information provided by mirtarbase database.
1948
miRTarBase ID miRNA Experiments Reference
MIRT044840 hsa-miR-320a CLASH 23622248
MIRT042129 hsa-miR-484 CLASH 23622248
MIRT041190 hsa-miR-497-5p CLASH 23622248
MIRT039074 hsa-miR-769-3p CLASH 23622248
MIRT036177 hsa-miR-320c CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27601583
GO:0005737 Component Cytoplasm IDA 27601583
GO:0005737 Component Cytoplasm IEA
GO:0010468 Process Regulation of gene expression IBA
GO:0010468 Process Regulation of gene expression IEP 27601583
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615579 37931 ENSG00000253719
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GX2
Protein name Ataxin-7-like protein 3B
Protein 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
Family and domains
Sequence
MEEISLANLDTNKLEAIAQEIYVDLIEDSCLGFCFEVHRAVKCGYFYLEFAETGSVKDFG
IQPVEDKGACRLPLCSLPGEPGNGPDQQLQRSPPEFQ
Sequence length 97
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 27601583
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27601583 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 27601583
★☆☆☆☆
Found in Text Mining only
Migraine Disorders Migraine Pubtator 29168350 Associate
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder BEFREE 23475819
★☆☆☆☆
Found in Text Mining only