CCDC47 coiled-coil domain containing 47
Gene ID: 57003, updated on 3-Nov-2024Gene type: protein coding
Also known as: THNS; GK001; MSTP041
- See all available tests in GTR for this gene
- Go to complete Gene record for CCDC47
- Go to Variation Viewer for CCDC47 variants
Summary
Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and multi-pass transmembrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex and protein folding chaperone complex. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Trichohepatoneurodevelopmental syndrome | not available |
Genomic context
- Location:
- 17q23.3
- Sequence:
- Chromosome: 17; NC_000017.11 (63745255..63773597, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCDC47 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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