BTBD8 (BTB domain containing 8)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284697
Gene name Gene Name - the full gene name approved by the HGNC.
BTB domain containing 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTBD8
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1107
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617945 21019 ENSG00000189195
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
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
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS