Gene Gene information from NCBI Gene database.
Entrez ID 125488
Gene name Tetratricopeptide repeat domain 39C
Gene symbol TTC39C
Synonyms (NCBI Gene)
C18orf17HsT2697
Chromosome 18
Chromosome location 18q11.2
miRNA miRNA information provided by mirtarbase database.
668
miRTarBase ID miRNA Experiments Reference
MIRT720605 hsa-miR-4797-5p HITS-CLIP 19536157
MIRT720604 hsa-miR-3664-5p HITS-CLIP 19536157
MIRT720603 hsa-miR-5586-3p HITS-CLIP 19536157
MIRT720602 hsa-miR-8063 HITS-CLIP 19536157
MIRT720601 hsa-miR-4698 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:0032474 Process Otolith morphogenesis IBA
GO:0060271 Process Cilium assembly IBA
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.
Q8N584
Protein name Tetratricopeptide repeat protein 39C (TPR repeat protein 39C)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10300 DUF3808 34 498 Protein of unknown function (DUF3808) Family
Sequence
Sequence length 583
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC MACULOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER 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
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 31264924
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36303158 Stimulate
★☆☆☆☆
Found in Text Mining only
Maculopathy with diabetes mellitus Diabetic maculopathy GWASCAT_DG 31264924
★☆☆☆☆
Found in Text Mining only