Gene Gene information from NCBI Gene database.
Entrez ID 51307
Gene name Family with sequence similarity 53 member C
Gene symbol FAM53C
Synonyms (NCBI Gene)
C5orf6
Chromosome 5
Chromosome location 5q31.2
Summary The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Ap
miRNA miRNA information provided by mirtarbase database.
607
miRTarBase ID miRNA Experiments Reference
MIRT046607 hsa-miR-222-3p CLASH 23622248
MIRT037568 hsa-miR-744-5p CLASH 23622248
MIRT568779 hsa-miR-6769a-3p HITS-CLIP 19536157
MIRT568778 hsa-miR-1225-3p HITS-CLIP 19536157
MIRT568777 hsa-miR-4749-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20936779, 23602568, 25416956, 28514442, 32296183, 33961781, 35271311, 35914814, 36931259, 36950384
GO:0005634 Component Nucleus IBA
GO:0006606 Process Protein import into nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609372 1336 ENSG00000120709
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYF3
Protein name Protein FAM53C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15242 FAM53 1 307 Family of FAM53 Family
Sequence
Sequence length 392
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations