Gene Gene information from NCBI Gene database.
Entrez ID 387338
Gene name NOP2/Sun RNA methyltransferase 4
Gene symbol NSUN4
Synonyms (NCBI Gene)
SHTAP
Chromosome 1
Chromosome location 1p33
miRNA miRNA information provided by mirtarbase database.
348
miRTarBase ID miRNA Experiments Reference
MIRT005275 hsa-miR-1-3p pSILAC 18668040
MIRT005275 hsa-miR-1-3p Proteomics;Other 18668040
MIRT052818 hsa-miR-3200-3p CLASH 23622248
MIRT687407 hsa-miR-4438 HITS-CLIP 23313552
MIRT687406 hsa-miR-6813-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000957 Process Mitochondrial RNA catabolic process IDA 19509288
GO:0000957 Process Mitochondrial RNA catabolic process IDA 39019044
GO:0001510 Process RNA methylation IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 21531335, 22949673, 23022348
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615394 31802 ENSG00000117481
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CB9
Protein name 5-cytosine rRNA methyltransferase NSUN4 (EC 2.1.1.-) (5-cytosine tRNA methyltransferase NSUN4) (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 4) (mRNA cytosine C(5)-methyltransferase NSUN4) (EC 2.1.1.-)
Protein function Mitochondrial RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as rRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:21531335, PubMed:23022348, PubMed:39019044). Involved in m
PDB 4FP9 , 4FZV , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF3 , 7OF5 , 7OF7 , 7OIC , 7PD3 , 8PK0 , 8QSJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01189 Methyltr_RsmB-F 166 352 16S rRNA methyltransferase RsmB/F Family
Sequence
MAALTLRGVRELLKRVDLATVPRRHRYKKKWAATEPKFPAVRLALQNFDMTYSVQFGDLW
PSIRVSLLSEQKYGALVNNFAAWDHVSAKLEQLSAKDFVNEAISHWELQSEGGQSAAPSP
ASWACSPNLRCFTFDRGDISRFPPARPGSLGVMEYYLMDAASLLPVLALGLQPGDIVLDL
CAAPGGKTLALLQTGCCRNLAANDLSPSRIARLQKILHSYVPEEIRDGNQVRVTSWDGRK
WGELEGDTYDRVLVDVPCTTDRHSLHEEENNIFKRSRKKERQILPVLQVQLLAAGLLATK
PGGHVVYSTCSLSHLQNEYVVQGAIELLANQYSIQVQVEDLTHFRRVFMDTF
CFFSSCQV
GELVIPNLMANFGPMYFCKMRRLT
Sequence length 384
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    rRNA modification in the mitochondrion
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER 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
Breast Neoplasms Breast neoplasm Pubtator 27432226, 36634566 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34744073 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Hereditary Leber Leber hereditary optic neuropathy Pubtator 36233195 Associate
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 27432226 Associate
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 27432226
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms Prostatic neoplasm Pubtator 36634566 Associate
★☆☆☆☆
Found in Text Mining only