Gene Gene information from NCBI Gene database.
Entrez ID 54800
Gene name Kelch like family member 24
Gene symbol KLHL24
Synonyms (NCBI Gene)
CMH29DRE1EBS6EBSSHKRIP6
Chromosome 3
Chromosome location 3q27.1
Summary The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protei
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs886037956 A>G,T Pathogenic Missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant
rs886037957 G>A,T Pathogenic Missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant
rs1057515580 T>C Pathogenic Initiator codon variant, 5 prime UTR variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
530
miRTarBase ID miRNA Experiments Reference
MIRT017030 hsa-miR-335-5p Microarray 18185580
MIRT022299 hsa-miR-124-3p Microarray 18668037
MIRT025029 hsa-miR-183-5p Sequencing 20371350
MIRT029040 hsa-miR-26b-5p Microarray 19088304
MIRT029040 hsa-miR-26b-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27798626, 30190310, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 27889062
GO:0005737 Component Cytoplasm IEA
GO:0005912 Component Adherens junction IDA 27889062
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611295 25947 ENSG00000114796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6TFL4
Protein name Kelch-like protein 24 (Kainate receptor-interacting protein for GluR6) (KRIP6) (Protein DRE1)
Protein function Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 56 163 BTB/POZ domain Domain
PF07707 BACK 168 270 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 307 349 Kelch motif Repeat
PF01344 Kelch_1 353 394 Kelch motif Repeat
PF01344 Kelch_1 397 441 Kelch motif Repeat
PF01344 Kelch_1 443 483 Kelch motif Repeat
PF01344 Kelch_1 535 571 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in the skin (PubMed:27798626, PubMed:27889062). Found in keratinocytes, dermal fibroblasts, and melanocytes (PubMed:27889062). Basal-layer keratinocytes have lower KLHL24 expression than suprabasal keratinocytes (PubMed:27798
Sequence
Sequence length 600
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies Pathogenic rs2545651806, rs778943927 RCV003152371
RCV003152372
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss Pathogenic rs886037957, rs886037956, rs1057515580 RCV000415529
RCV000415601
RCV000415556
RCV000415575
RCV001197323
Epidermolysis bullosa simplex, Koebner type Pathogenic rs886037957, rs886037956, rs1057515580 RCV000258019
RCV000258008
RCV000258014
RCV000408918
KLHL24-related disorder Pathogenic rs886037956 RCV004758678
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Conflicting classifications of pathogenicity rs138664031 RCV004786868
Gastric cancer Benign rs9290769 RCV005924618
Hypertrophic cardiomyopathy Uncertain significance rs754865611 RCV003319269
Lung cancer Benign rs9290769 RCV005924620
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 34990474
Cardiomyopathies Associate 34740256, 36672924
Cardiomyopathy Dilated Associate 30579426, 35975634, 36672924
Cardiomyopathy Hypertrophic Associate 36672924, 39971408
Ectodermal Dysplasia Skin Fragility Syndrome Associate 27889062, 30579426, 34740256
Epidermolysis Bullosa Simplex Associate 30579426, 34740256, 35975634, 39317060
Heredodegenerative Disorders Nervous System Associate 30579426
Leukemia Myeloid Acute Associate 32783661
Myopathy desmin storage Associate 27889062
Skin Abnormalities Associate 34740256