Gene Gene information from NCBI Gene database.
Entrez ID 284040
Gene name CMT1A duplicated region transcript 4
Gene symbol CDRT4
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p12
miRNA miRNA information provided by mirtarbase database.
199
miRTarBase ID miRNA Experiments Reference
MIRT016868 hsa-miR-335-5p Microarray 18185580
MIRT022198 hsa-miR-124-3p Microarray 18668037
MIRT045965 hsa-miR-125b-5p CLASH 23622248
MIRT882223 hsa-miR-1193 CLIP-seq
MIRT882224 hsa-miR-1207-3p 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:0005515 Function Protein binding IPI 25416956, 29892012, 32296183
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.
Q8N9R6
Protein name CMT1A duplicated region transcript 4 protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15213 CDRT4 12 148 CMT1A duplicated region transcript 4 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal skeletal muscle and kidney. {ECO:0000269|PubMed:11381029}.
Sequence
Sequence length 152
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
VASCULAR DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Triple Negative Breast Neoplasms Associate 35672711
★☆☆☆☆
Found in Text Mining only