Gene Gene information from NCBI Gene database.
Entrez ID 54093
Gene name SET domain containing 4
Gene symbol SETD4
Synonyms (NCBI Gene)
C21orf18C21orf27
Chromosome 21
Chromosome location 21q22.12
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT004168 hsa-miR-192-5p Microarray 16822819
MIRT004226 hsa-miR-346 Microarray 16822819
MIRT038999 hsa-let-7a-3p CLASH 23622248
MIRT1340149 hsa-miR-1200 CLIP-seq
MIRT1340150 hsa-miR-1286 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 24738023
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620995 1258 ENSG00000185917
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVD3
Protein name SET domain-containing protein 4 (EC 2.1.1.-) (EC 2.1.1.364)
Protein function Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins (PubMed:31308046, PubMed:35545041, PubMed:37926288). Via its catalytic activity, regulates many processes, including cell proliferation, cell differentiati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 59 273 SET domain Family
PF09273 Rubis-subs-bind 309 425 Rubisco LSMT substrate-binding Domain
Sequence
Sequence length 440
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
MITRAL VALVE PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 24696725
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Non gestational Associate 35655916
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Inhibit 37879429
★☆☆☆☆
Found in Text Mining only