POPDC3 popeye domain cAMP effector 3
Gene ID: 64208, updated on 14-Nov-2024Gene type: protein coding
Also known as: POP3; LGMDR26; bA355M14.1
- See all available tests in GTR for this gene
- Go to complete Gene record for POPDC3
- Go to Variation Viewer for POPDC3 variants
Summary
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. GeneReviews: Not available | |
| Genome-wide association study of severity in multiple sclerosis. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Muscular dystrophy, limb-girdle, autosomal recessive 26 | not available |
Genomic context
- Location:
- 6q21
- Sequence:
- Chromosome: 6; NC_000006.12 (105157900..105180014, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POPDC3 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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