Gene Gene information from NCBI Gene database.
Entrez ID 8545
Gene name CGG triplet repeat binding protein 1
Gene symbol CGGBP1
Synonyms (NCBI Gene)
CGGBPp20-CGGBP
Chromosome 3
Chromosome location 3p11.1
Summary This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures whic
miRNA miRNA information provided by mirtarbase database.
738
miRTarBase ID miRNA Experiments Reference
MIRT027916 hsa-miR-96-5p Sequencing 20371350
MIRT659570 hsa-miR-3133 HITS-CLIP 23824327
MIRT659569 hsa-miR-186-5p HITS-CLIP 23824327
MIRT659568 hsa-miR-4661-3p HITS-CLIP 23824327
MIRT659567 hsa-miR-5088-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10692448
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IDA 31547883
GO:0003690 Function Double-stranded DNA binding IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 29892012, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603363 1888 ENSG00000163320
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UFW8
Protein name CGG triplet repeat-binding protein 1 (CGG-binding protein 1) (20 kDa CGG-binding protein) (p20-CGGBP DNA-binding protein)
Protein function Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain. {ECO:0000269|PubMed:14667814}.
Sequence
MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTSCNVVLNHVRKSAISD
HLKSKTHTKRKAEFEEQNVRKKQRPLTASLQCNSTAQTEKVSVIQDFVKMCLEANIPLEK
ADHPAVRAFLSRHVKNGGSIPKSDQLRRAYLPDGYENENQLLNSQDC
Sequence length 167
Interactions View interactions
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT 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
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 22491060, 23478628 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26482656
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 23202957 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma Carcinoma BEFREE 23478628
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 23478628 Associate
★☆☆☆☆
Found in Text Mining only