Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
222255
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 7 like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN7L1
Synonyms (NCBI Gene) Gene synonyms aliases
ATXN7L4
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 24441198