Gene Gene information from NCBI Gene database.
Entrez ID 148423
Gene name Chromosome 1 open reading frame 52
Gene symbol C1orf52
Synonyms (NCBI Gene)
gm117
Chromosome 1
Chromosome location 1p22.3
miRNA miRNA information provided by mirtarbase database.
382
miRTarBase ID miRNA Experiments Reference
MIRT027370 hsa-miR-101-3p Sequencing 20371350
MIRT720847 hsa-miR-6757-3p HITS-CLIP 19536157
MIRT720846 hsa-miR-626 HITS-CLIP 19536157
MIRT720845 hsa-miR-6876-3p HITS-CLIP 19536157
MIRT720844 hsa-miR-7974 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005654 Component Nucleoplasm IDA
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.
Q8N6N3
Protein name UPF0690 protein C1orf52 (BCL10-associated gene protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15559 DUF4660 22 127 Domain of unknown function (DUF4660) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested including heart, placenta, liver, skeletal muscle, kidney and pancreas. Weak expression in brain and lung. {ECO:0000269|PubMed:11891061}.
Sequence
MAAEEKDPLSYFAAYGSSSSGSSDEEDNIEPEETSRRTPDPAKSAGGCRNKAEKRLPGPD
ELFRSVTRPAFLYNPLNKQIDWERHVVKAPEEPPKEFKIWKSNYVPPPETYTTEKKPPPP
ELDMAIK
WSNIYEDNGDDAPQNAKKARLLPEGEETLESDDEKDEHTSKKRKVEPGEPAKK
KK
Sequence length 182
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS 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
Breast Carcinoma Breast Carcinoma BEFREE 12902980, 15065599, 28510570
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17503439
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30803829
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 24876225
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 29986884
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 12902980, 15065599, 28510570
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of kidney Kidney Cancer BEFREE 19681889
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 17503439
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 17503439, 26271008, 9721087
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 28523530
★☆☆☆☆
Found in Text Mining only