Gene Gene information from NCBI Gene database.
Entrez ID 56970
Gene name Ataxin 7 like 3
Gene symbol ATXN7L3
Synonyms (NCBI Gene)
SGF11
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
592
miRTarBase ID miRNA Experiments Reference
MIRT032069 hsa-miR-16-5p Sequencing 20371350
MIRT046807 hsa-miR-222-3p CLASH 23622248
MIRT045707 hsa-miR-125a-5p CLASH 23622248
MIRT041671 hsa-miR-484 CLASH 23622248
MIRT041527 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000124 Component SAGA complex IBA
GO:0000124 Component SAGA complex IDA 18206972, 27601583
GO:0000124 Component SAGA complex IEA
GO:0000124 Component SAGA complex NAS 19114550
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619010 25416 ENSG00000087152
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14CW9
Protein name Ataxin-7-like protein 3 (SAGA-associated factor 11 homolog)
Protein function Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, partic
PDB 2KKT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08209 Sgf11 80 112 Sgf11 (transcriptional regulation protein) Family
PF08313 SCA7 202 239 SCA7, zinc-binding domain Domain
Sequence
MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVKCGYFFLDDTDPDSMKD
FEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHLEKCLGMGRNSSRIANRRI
ANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKNPNSPRRSKSLKHKNGELSNS
DPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKKMCTRSLRCPQHTDEQRRTVRIY
FLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDGSSDLSPSDSGSSKTSENQGWGLGT
NSSESRKTKKKKSHLSLVGTASGLGSNKKKKPKPPAPPTPSIYDDIN
Sequence length 347
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
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
cervical cancer Cervical Cancer BEFREE 31737900
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervix carcinoma Cervix carcinoma BEFREE 31737900
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 35192684 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27132940
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 31737900
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27132940
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 31737900 Associate
★☆☆☆☆
Found in Text Mining only