IFRD1 interferon related developmental regulator 1
Gene ID: 3475, updated on 28-Oct-2024Gene type: protein coding
Also known as: PC4; TIS7
- See all available tests in GTR for this gene
- Go to complete Gene record for IFRD1
- Go to Variation Viewer for IFRD1 variants
Summary
This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip. GeneReviews: Not available | |
| Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GeneReviews: Not available | |
| Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available |
Genomic context
- Location:
- 7q31.1
- Sequence:
- Chromosome: 7; NC_000007.14 (112423174..112477203)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFRD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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