Log in to bookmark this gene

Bookmark This Gene

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 Show/Hide all (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
PF01344 Kelch_1 550 → 590 Kelch motif Repeat
PF01344 Kelch_1 497 → 546 Kelch motif Repeat
PF01344 Kelch_1 402 → 442 Kelch motif Repeat
PF01344 Kelch_1 452 → 495 Kelch motif Repeat
PF07707 BACK 165 → 266 BTB And C-terminal Kelch Domain
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 Reference Evidence Score
BARRETT'S ESOPHAGUS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE — GWAS catalog 31527586, 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT — GWAS catalog 22419666
★★★★★
★★☆☆☆
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