BTBD8 (BTB domain containing 8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 284697
Gene name BTB domain containing 8
Gene symbol BTBD8
Synonyms (NCBI Gene)
KIAA1107
Chromosome 1
Chromosome location 1p22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 14654994
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0008021 Component Synaptic vesicle IEA
GO:0016182 Process Synaptic vesicle budding from endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617945 21019 ENSG00000189195
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5XKL5
Protein name BTB/POZ domain-containing protein 8 (AP2-interacting clathrin-endocytosis) (APache)
Protein function Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 48 → 141 BTB/POZ domain Domain
PF00651 BTB 197 → 304 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal brain. Weakly expressed in adult brain and prostate. {ECO:0000269|PubMed:14654994}.
Sequence 
MARCGEGSAAPMVLLGSAGVCSKGLQRKGPCERRRLKATVSEQLSQDLLRLLREEFHTDV
TFSVGCTLFKAHKAVLLARVPDFYFHTIGQTSNSLTNQEPIAVENVEALEFRTFLQIIYS
SNRNIKNYEEEILRKKIMEIGISQKQLDISFPKCENSSDCSLQKHEIPEDISDRDDDFIS
NDNYDLEPASELGEDLLKLYVKPCCPDIDIFVDGKRFKAHRAILSARSSYFAAMLSGCWA
ESSQEYVTLQGISHVELNVMMHFIYGGTLDIPDKTNVGQILNMADMYGLEGLKEVAIYIL
RRDYCNFFQKPVPRTLTSILECLIIAHSVGVESLFADCMKWIVKHFARFWSERSFANIPP
EIQKSCLNMLIQSLVSIT
Sequence length 378
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene Gene ontology 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 (5)
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
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (60)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 29456727
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 16437661, 28507751, 29209119, 30984258, 31008971, 31195984, 31400275, 31507427, 31528098, 31798002
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 27707620
★★★★★
★☆☆☆☆
Found in Text Mining only
Azotemia Azotemia BEFREE 21071523
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 30600428
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28966007
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 29162037
★★★★★
★☆☆☆☆
Found in Text Mining only
CATARACT, ANTERIOR POLAR Cataract BEFREE 29759075, 31291389
★★★★★
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 31530847
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 31564039
★★★★★
★☆☆☆☆
Found in Text Mining only