Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84541
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch repeat and BTB domain containing 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KBTBD8
Synonyms (NCBI Gene) Gene synonyms aliases
TA-KRP, TAKRP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016028 hsa-miR-374b-5p Sequencing 20371350
MIRT092531 hsa-miR-100-5p PAR-CLIP 21572407
MIRT092530 hsa-miR-99a-5p PAR-CLIP 21572407
MIRT092533 hsa-miR-99b-5p PAR-CLIP 21572407
MIRT308293 hsa-miR-548n PAR-CLIP 21572407
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 21145461, 26399832, 28514442, 30190310, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005819 Component Spindle IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616607 30691 ENSG00000163376
Protein
UniProt ID Q8NFY9
Protein name Kelch repeat and BTB domain-containing protein 8 (T-cell activation kelch repeat protein) (TA-KRP)
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiqui
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 39 147 BTB/POZ domain Domain
PF07707 BACK 152 254 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 330 377 Kelch motif Repeat
PF01344 Kelch_1 379 428 Kelch motif Repeat
PF01344 Kelch_1 470 516 Kelch motif Repeat
Sequence
MAASADLSKSSPTPNGIPSSDPASDAMDPFHACSILKQLKTMYDEGQLTDIVVEVDHGKT
FSCHRNVLAAISPYFRSMFTSGLTESTQKEVRIVGVEAESMDLVLNYAYTSRVILTEANV
QALFTAASIFQIPSIQDQCAKYMISHL
DPQNSIGVFIFADHYGHQELGDRSKEYIRKKFL
CVTKEQEFLQLTKDQLISILDSDDLNVDREEHVYESIIRWFEHEQNEREVHLPEIFAKCI
RFPLMEDTFIEKIP
PQFAQAIAKSCVEKGPSNTNGCTQRLGMTASEMIICFDAAHKHSGK
KQTVPCLDIVTGRVFKLCKPPNDLREVGILVSPDNDIYIAGGYRPSSSEVSIDHKAENDF
WMYDHSTNRWLSKPSLL
RARIGCKLVYCCGKMYAIGGRVYEGDGRNSLKSVECYDSRENC
WTTVCAMP
VAMEFHNAVEYKEKIYVLQGEFFLFYEPQKDYWGFLTPMTVPRIQGLAAVYK
DSIYYIAGTCGNHQRMFTVEAYDIELNKWTRKKDFP
CDQSINPYLKLVLFQNKLHLFVRA
TQVTVEEHVFRTSRKNSLYQYDDIADQWMKVYETPDRLWDLGRHFECAVAKLYPQCLQKV
L
Sequence length 601
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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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
Diabetes Type 2 diabetes N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Growth Disorders Associate 31848607