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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies Pathogenic rs2545651806, rs778943927 RCV003152371
RCV003152372
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss Pathogenic rs886037957, rs886037956, rs1057515580 RCV000415529
RCV000415601
RCV000415556
RCV000415575
RCV001197323
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex, Koebner type Pathogenic rs886037957, rs886037956, rs1057515580 RCV000258019
RCV000258008
RCV000258014
RCV000408918
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLHL24-related disorder Pathogenic rs886037956 RCV004758678
★★★★☆
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
CARDIOMYOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX Disgenet
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 34990474 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 30715372
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathies Cardiomyopathy Pubtator 34740256, 36672924 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 30579426, 35975634, 36672924 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 36672924, 39971408 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 30579426
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 30715372
★☆☆☆☆
Found in Text Mining only
Epidermolysis Bullosa Epidermolysis Bullosa BEFREE 27798626
★☆☆☆☆
Found in Text Mining only
Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex BEFREE 28532758, 29574966, 30579426
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex Epidermolysis bullosa Pubtator 30579426, 34740256, 35975634, 39317060 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations