Gene Gene information from NCBI Gene database.
Entrez ID 132200
Gene name Chromosome 3 open reading frame 49
Gene symbol C3orf49
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p14.2-p14.1
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT019026 hsa-miR-335-5p Microarray 18185580
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.
Q96BT1
Protein name Putative uncharacterized protein C3orf49
Family and domains
Sequence
MAQPQLYLPEPFKIAYRKVGQCRRFQQLKKKNGSFKRKGIERWHRAVSTNLLKQNVLVPK
EESSSDSDMGFHESQQNQKSNLKTKVKTAFGRMLSYKYRSKPACASQEGSTDHKEALLSN
TQSLLPRIVKEFSSPKLFTAKMRKLSENATIQLDVVEAETEEITQGNTLLRARRTTKRLS
VTSLPSGLQKGPYSPKKRPHFPALKKKKRGMENILRKSDLTVGKLQMQVDDLIETVTDKS
MKLLAQRHAELQQCEFLGDEILQSSKQFQRISKRTMRKYKLKNMTTKGPGDS
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Schizophrenia Schizophrenia GWASCAT_DG 25056061, 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations