Gene Gene information from NCBI Gene database.
Entrez ID 222255
Gene name Ataxin 7 like 1
Gene symbol ATXN7L1
Synonyms (NCBI Gene)
ATXN7L4
Chromosome 7
Chromosome location 7q22.3
miRNA miRNA information provided by mirtarbase database.
203
miRTarBase ID miRNA Experiments Reference
MIRT031296 hsa-miR-19b-3p Sequencing 20371350
MIRT640167 hsa-miR-4282 HITS-CLIP 23824327
MIRT219886 hsa-miR-3606-3p HITS-CLIP 23824327
MIRT219884 hsa-miR-513a-3p HITS-CLIP 23824327
MIRT219885 hsa-miR-513c-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULK2
Protein name Ataxin-7-like protein 1 (Ataxin-7-like protein 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08313 SCA7 277 345 SCA7, zinc-binding domain Domain
Sequence
MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSD
NVDLEEAGKEGGKSREVMRLNKEDMHLFGHYPAHDDFYLVVCSACNQVVKPQVFQSHCER
RHGSMCRPSPSPVSPASNPRTSLVQVKTKACLSGHHSASSTSKPFKTPKDNLLTSSSKQH
TVFPAKGSRDKPCVPVPVVSLEKIPNLVKADGANVKMNSTTTTAVSASSTSSSAVSTPPL
IKPVLMSKSVPPSPEKILNGKGILPTTIDKKHQNGTKNSNKPYRRLSEREFDPNKHCGVL
DPETKKPCTRSLTCKTHSLSHRRAVPGRKKQFDLLLAEHKAKSRE
KEVKDKEHLLTSTRE
ILPSQSGPAQDSLLGSSGSSGPEPKVASPAKSRPPNSVLPRPSSANSISSSTSSNHSGHT
PEPPLPPVGGDLASRLSSDEGEMDGADESEKLDCQFSTHHPRPLAFCSFGSRLMGRGYYV
FDRRWDRFRFALNSMVEKHLNSQMWKKIPPAADSPLPSPAAHITTPVPASVLQPFSNPSA
VYLPSAPISSRLTSSYIMTSAMLSNAAFVTSPDPSALMSHTTAFPHVAATLSIMDSTFKA
PSAVSPIPAVIPSPSHKPSKTKTSKSSKVKDLSTRSDESPSNKKRKPQSSTSSSSSSSSS
SLQTSLSSPLSGPHKKNCVLNASSALNSYQAAPPYNSLSVHNSNNGVSPLSAKLEPSGRT
SLPGGPADIVRQVGAVGGSSDSCPLSVPSLALHAGDLSLASHNAVSSLPLSFDKSEGKKR
KNSSSSSKACKITKMPGMNSVHKKNPPSLLAPVPDPVNSTSSRQVGKNSSLALSQSSPSS
ISSPGHSRQNTNRTGRIRTLP
Sequence length 861
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE 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
Alzheimer`s Disease Alzheimer disease GWASDB_DG 22881374
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 22881374
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 29631575
★☆☆☆☆
Found in Text Mining only