Gene Gene information from NCBI Gene database.
Entrez ID 54758
Gene name Kelch domain containing 4
Gene symbol KLHDC4
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16q24.2
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT023572 hsa-miR-1-3p Microarray 18668037
MIRT713966 hsa-miR-335-5p HITS-CLIP 19536157
MIRT713965 hsa-miR-6837-3p HITS-CLIP 19536157
MIRT713964 hsa-miR-5699-5p HITS-CLIP 19536157
MIRT713963 hsa-miR-874-5p 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 21044950, 23455924, 25416956, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620518 25272 ENSG00000104731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBB5
Protein name Kelch domain-containing protein 4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13418 Kelch_4 63 117 Repeat
PF13415 Kelch_3 131 184 Domain
PF07646 Kelch_2 231 290 Kelch motif Repeat
PF07646 Kelch_2 295 349 Kelch motif Repeat
Sequence
MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEEEDLEALIAHFQTLDAKRTQTVELPCPP
PSPRLNASLSVHPEKDELILFGGEYFNGQKTFLYNELYVYNTRKDTWTKVDIPSPPPRRC
AHQAVVVPQGGGQLWVFGGEFASPNGEQFYHYKDLWVLHLATKTWEQVKSTGGPSGRSGH
RMVA
WKRQLILFGGFHESTRDYIYYNDVYAFNLDTFTWSKLSPSGTGPTPRSGCQMSVTP
QGGIVVYGGYSKQRVKKDVDKGTRHSDMFLLKPEDGREDKWVWTRMNPSG
VKPTPRSGFS
VAMAPNHQTLFFGGVCDEEEEESLSGEFFNDLYFYDATRNRWFEGQLKG
PKSEKKKRRRG
RKEEPEGGSRPACGGAGTQGPVQLVKEVVAEDGTVVTIKQVLTAPGSAGQPRSEDEDSLE
EAGSPAPGPCPRSNAMLAVKHGVLYVYGGMFEAGDRQVTLSDLHCLDLHRMEAWKALVEM
DPETQEWLEETDSEEDSEEVEGAEGGVDDEDSGEESGAED
Sequence length 520
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA 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
Nasopharyngeal carcinoma Nasopharyngeal Carcinoma BEFREE 27030985
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 39706520 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27030985
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 37340842 Associate
★☆☆☆☆
Found in Text Mining only