Gene Gene information from NCBI Gene database.
Entrez ID 57563
Gene name Kelch like family member 8
Gene symbol KLHL8
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q22.1
miRNA miRNA information provided by mirtarbase database.
324
miRTarBase ID miRNA Experiments Reference
MIRT024647 hsa-miR-215-5p Microarray 19074876
MIRT026842 hsa-miR-192-5p Microarray 19074876
MIRT046891 hsa-miR-221-3p CLASH 23622248
MIRT040093 hsa-miR-615-3p CLASH 23622248
MIRT667702 hsa-miR-3121-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21145461, 30190310, 32296183, 33961781, 34591642
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IDA 19158078
GO:0016567 Process Protein ubiquitination IDA 19158078
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611967 18644 ENSG00000145332
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2G9
Protein name Kelch-like protein 8
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 57 163 BTB/POZ domain Domain
PF07707 BACK 169 271 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 316 353 Kelch motif Repeat
PF01344 Kelch_1 355 400 Kelch motif Repeat
PF01344 Kelch_1 402 447 Kelch motif Repeat
PF01344 Kelch_1 449 494 Kelch motif Repeat
PF01344 Kelch_1 496 541 Kelch motif Repeat
PF01344 Kelch_1 543 588 Kelch motif Repeat
Sequence
Sequence length 620
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
BULIMIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOGONADISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Menopause Premature Associate 33860118
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 27358489
★☆☆☆☆
Found in Text Mining only