Gene Gene information from NCBI Gene database.
Entrez ID 55958
Gene name Kelch like family member 9
Gene symbol KLHL9
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9p21.3
Summary This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which
miRNA miRNA information provided by mirtarbase database.
542
miRTarBase ID miRNA Experiments Reference
MIRT038249 hsa-miR-330-5p CLASH 23622248
MIRT522823 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT522822 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT522821 hsa-miR-369-3p HITS-CLIP 21572407
MIRT522820 hsa-miR-5692b HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 17543862
GO:0005515 Function Protein binding IPI 17543862, 20554658, 21145461, 30190310, 34591642, 35512704
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611201 18732 ENSG00000198642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2J3
Protein name Kelch-like protein 9
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dyn
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 40 148 BTB/POZ domain Domain
PF07707 BACK 154 255 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 336 386 Kelch motif Repeat
PF01344 Kelch_1 388 433 Kelch motif Repeat
PF01344 Kelch_1 435 480 Kelch motif Repeat
PF01344 Kelch_1 483 532 Kelch motif Repeat
PF01344 Kelch_1 536 581 Kelch motif Repeat
Sequence
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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
GILLES DE LA TOURETTE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KLHL9-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KLHL9-related distal myopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
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
KLHL9-related early-onset distal myopathy Distal Myopathy ORPHANET_DG 20554658
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KLHL9-related early-onset distal myopathy Distal Myopathy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Melanoma Pubtator 18612309 Associate
★☆☆☆☆
Found in Text Mining only
Myopathies, Nemaline Myopathy GENOMICS_ENGLAND_DG 20554658
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25521327
★☆☆☆☆
Found in Text Mining only
Peripheral axonal neuropathy Peripheral axonal neuropathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 32716971 Associate
★☆☆☆☆
Found in Text Mining only