ATXN7L2 (ataxin 7 like 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Other IDs Protein Associated diseases
Entrez ID 127002
Gene name Ataxin 7 like 2
Gene symbol ATXN7L2
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p13.3
miRNA miRNA information provided by mirtarbase database.
12
Gene miRNA Other IDs Protein Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT811600 hsa-miR-1276 CLIP-seq
MIRT811601 hsa-miR-202 CLIP-seq
MIRT811602 hsa-miR-3689d CLIP-seq
MIRT811603 hsa-miR-4311 CLIP-seq
MIRT811604 hsa-miR-4467 CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T6C5
Protein name Ataxin-7-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08313 SCA7 224 → 291 SCA7, zinc-binding domain Domain
Sequence 
MAVRERAAAAMAALERRVPSLDDFAGQSWSSWVERADLPAADGAELEESSKNTKKLDAMT
LIKEDMSIFGHCPAHDDFYLVVCNHCSQVVKPQAFQKHCERRHGPLSKLYGRAPPPPPAP
ASSQKCHVVNGQGPACRAPGSTKTSSREKGQGSRSRGHQPPEKTQKDNLCQPGGLTKDSP
GKPPMAPPSKEPPGRENIEIIPSEGSSHWAEGSPPEKEPSGTRLPPKTHRKMARKECDLN
RQCGVINPETKKICTRLLTCKIHSVHQRREVQGRAKDFDVLVAELKANSRKGESPKEKSP
GRKEQVLERPSQELPSSVQVVAAVAAPSSTFSVRAKQTYPYCALPRSRASSESELDDEGP
CGGDGDPGLFPFPMPRGGTQASSEESEEEGTSDDLHPPPDCHYATRPPRPQAFCTFGSRL
VSPGCYVFSRRLDRFCSALSSMLERHLSTHMWKKIPPAAEPPAHLVNSPLSAPLSPSSTG
TCPRLPGPTLRPACPASMPPTKDNLVPSYPAGSPSVAAACSQAECMGGSQAITSPLPANT
PSPSFSKLPPSKASKSSKGKDGVEVEAPSRKRKLSPGPTTLKRTCILEPTGKGKPSGCRG
LSAKTKTALSMGLNGTMGPRVKRAGPLDCRGSPHQLPTPVKASQLENRGAAGHPAKALPT
NCLSEEEVAKKRKNLATYCRPVKAKHCQAGAPADVACSVRRKKPGPALAFEEKCSTLKSK
AH
Sequence length 722
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
FAMILIAL HYPERLIPIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations