Gene Gene information from NCBI Gene database.
Entrez ID 284805
Gene name Chromosome 20 open reading frame 203
Gene symbol C20orf203
Synonyms (NCBI Gene)
-
Chromosome 20
Chromosome location 20q11.21
Summary The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide
miRNA miRNA information provided by mirtarbase database.
506
miRTarBase ID miRNA Experiments Reference
MIRT843783 hsa-miR-1236 CLIP-seq
MIRT843784 hsa-miR-128 CLIP-seq
MIRT843785 hsa-miR-1301 CLIP-seq
MIRT843786 hsa-miR-140-3p CLIP-seq
MIRT843787 hsa-miR-142-5p CLIP-seq
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:0005737 Component Cytoplasm IEA
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.
Q8NBC4
Protein name Uncharacterized protein C20orf203
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17714 DUF5559 1 194 Family of unknown function (DUF5559) Family
Tissue specificity TISSUE SPECIFICITY: Expressed most abundantly in the brain at protein level. Present in cortex, cerebellum and midbrain. Found in neurons. Elevated expressions detected in Alzheimer brain samples. Also expressed in testis. {ECO:0000269|PubMed:20376170}.
Sequence
Sequence length 194
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations