SEM1 SEM1 26S proteasome subunit
Gene ID: 7979, updated on 5-Mar-2024Gene type: protein coding
Also known as: ECD; DSS1; SHFD1; SHFM1; SHSF1; PSMD15; Shfdg1; C7orf76
- See all available tests in GTR for this gene
- Go to complete Gene record for SEM1
- Go to Variation Viewer for SEM1 variants
Summary
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. GeneReviews: Not available | |
| The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q21.3
- Sequence:
- Chromosome: 7; NC_000007.14 (96481626..96709846, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEM1 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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