Gene Gene information from NCBI Gene database.
Entrez ID 55295
Gene name Kelch like family member 26
Gene symbol KLHL26
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT723879 hsa-miR-490-3p HITS-CLIP 19536157
MIRT723878 hsa-miR-649 HITS-CLIP 19536157
MIRT723877 hsa-miR-3155a HITS-CLIP 19536157
MIRT723876 hsa-miR-3155b HITS-CLIP 19536157
MIRT723875 hsa-miR-484 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53HC5
Protein name Kelch-like protein 26
Protein function May play a role in endo(sarco)plasmic reticulum (ER/SR) mitochondrial signaling (PubMed:37204873). May be part of the ubiquitin-proteasome system (UPS) and affect ubiquitination and degradation of target substrates in cardiomyocytes (PubMed:3720
PDB 9ETW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 53 159 BTB/POZ domain Domain
PF07707 BACK 165 266 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 402 442 Kelch motif Repeat
PF01344 Kelch_1 452 495 Kelch motif Repeat
PF01344 Kelch_1 497 546 Kelch motif Repeat
PF01344 Kelch_1 550 590 Kelch motif Repeat
Sequence
Sequence length 615
Interactions View interactions
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
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT GWAS catalog
★★☆☆☆
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
Ebstein Anomaly Ebstein anomaly Pubtator 31985165, 37204873 Associate
★☆☆☆☆
Found in Text Mining only
Gastroesophageal reflux disease Gastroesophageal Reflux Disease GWASCAT_DG 31527586
★★☆☆☆
Found in Text Mining + Unknown/Other Associations