SAMD9
Sign in to saveAlso known as C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2
Sterile alpha motif domain-containing protein 9 is a 1,589-amino-acid protein encoded by the SAMD9 gene. This cytoplasmic protein is a tumor suppressor that has a role in cell proliferation and the innate immune response to viral infection. Like its paralog, SAMD9-like (SAMD9L) protein, its N-terminus contains a sterile alpha motif (SAM).
Gene data
SAMD9- Name
- sterile alpha motif domain containing 9
- Type
- protein-coding
- Aliases
- C7orf5, DRIF1, M7MLS2, MIRAGE, NFTC, OEF1, OEF2
This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010].
via MyGene.info
Gene · Ensembl
sterile alpha motif domain containing 9
- Symbol
- SAMD9
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:93,099,513-93,118,042
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 75072
- exact match
- identifiers.org/ncbigene/54809
- genomic end
- 92747336
- genomic start
- 92728829
- cytogenetic location
- 7q21.2
via Wikidata · CC0
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Article
2 sectionsContents
- References
- Further reading
Sterile alpha motif domain-containing protein 9 is a 1,589-amino-acid protein encoded by the SAMD9 gene. This cytoplasmic protein is a tumor suppressor that has a role in cell proliferation and the innate immune response to viral infection. Like its paralog, SAMD9-like (SAMD9L) protein, its N-terminus contains a sterile alpha motif (SAM).
Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC). On the other hand, mutations that increase the activity of SAMD9 cause myelodysplasia, infection, restriction of growth, adrenal hypoplasia (small adrenal glands with diminished function), genital phenotypes, and enteropathy (MIRAGE) syndrome. This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2). Loss of chromosome 7/7q may be an adaptation to a growth restriction inherent in SAMD9/9L mutant cells.