Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54800
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 24
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL24
Synonyms (NCBI Gene) Gene synonyms aliases
CMH29, DRE1, EBS6, EBSSH, KRIP6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMH29, EBS6
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27798626, 32296183
GO:0005737 Component Cytoplasm IDA 27889062
GO:0005912 Component Adherens junction IDA 27889062
GO:0016567 Process Protein ubiquitination IDA 27798626
GO:0030057 Component Desmosome IDA 27889062
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611295 25947 ENSG00000114796
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epidermolysis bullosa Epidermolysis Bullosa Simplex Kobner rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901
View all (97 more)
27889062, 27798626
Palmoplantar keratoderma Keratoderma, Palmoplantar, Diffuse rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951
View all (10 more)
Unknown
Disease term Disease name Evidence References Source
Epidermolysis Bullosa Simplex epidermolysis bullosa simplex 6, generalized, with scarring and hair loss GenCC
Cardiomyopathy cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies GenCC
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy GenCC
Hypertension Hypertension GWAS
Associations from Text Mining
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