Gene Gene information from NCBI Gene database.
Entrez ID 166348
Gene name Kelch repeat and BTB domain containing 12
Gene symbol KBTBD12
Synonyms (NCBI Gene)
KLHDC6
Chromosome 3
Chromosome location 3q21.3
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT453813 hsa-miR-490-3p PAR-CLIP 23592263
MIRT453812 hsa-miR-7851-3p PAR-CLIP 23592263
MIRT453811 hsa-miR-194-3p PAR-CLIP 23592263
MIRT453810 hsa-miR-3192-5p PAR-CLIP 23592263
MIRT453809 hsa-miR-6087 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IBA
GO:0043161 Process Proteasome-mediated ubiquitin-dependent protein catabolic process IBA
GO:1990756 Function Ubiquitin-like ligase-substrate adaptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3ZCT8
Protein name Kelch repeat and BTB domain-containing protein 12 (Kelch domain-containing protein 6)
PDB 7QZQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 21 127 BTB/POZ domain Domain
PF07707 BACK 133 235 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 375 423 Kelch motif Repeat
PF01344 Kelch_1 425 479 Kelch motif Repeat
PF01344 Kelch_1 481 534 Kelch motif Repeat
PF01344 Kelch_1 541 588 Kelch motif Repeat
Sequence
Sequence length 623
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Depressive Disorder Major depressive disorder Pubtator 34200970 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 34200970 Associate
★☆☆☆☆
Found in Text Mining only
Periodontal Diseases Periodontal disease Pubtator 34200970 Associate
★☆☆☆☆
Found in Text Mining only
Periodontitis Periodontitis Pubtator 34200970 Associate
★☆☆☆☆
Found in Text Mining only