SAMD9

54809

SAMD9
SAMD9
Identifiers
AliasesSAMD9, C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2
External IDsOMIM: 610456; GeneCards: SAMD9
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

54809

n/a

Ensembl

ENSG00000205413

n/a

UniProt

Q5K651

n/a

RefSeq (mRNA)

NM_017654
NM_001193307

n/a

RefSeq (protein)

NP_001180236
NP_060124

n/a

Location (UCSC)Chr 7: 93.1 – 93.12 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Sterile alpha motif domain-containing protein 9 is a 1,589-amino-acid protein encoded by the SAMD9 gene.[3] 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,[4] its N-terminus contains a sterile alpha motif (SAM).

Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC).[4] 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.[5] This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2).[6] Loss of chromosome 7/7q may be an adaptation to a growth restriction inherent in SAMD9/9L mutant cells.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000205413 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: SAMD9 sterile alpha motif domain containing 9".
  4. ^ a b Topaz et al. 2006
  5. ^ Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, et al. (July 2016). "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7". Nature Genetics. 48 (7): 792–7. doi:10.1038/ng.3569. PMID 27182967. S2CID 13270706.
  6. ^ Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, et al. (August 2017). "Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome". Leukemia. 31 (8): 1827–30. doi:10.1038/leu.2017.142. PMC 5540771. PMID 28487541.
  7. ^ Hall T, Gurbuxani S, Crispino JD (May 2024). "Malignant progression of preleukemic disorders". Blood. 143 (22): 2245–55. doi:10.1182/blood.2023020817. PMC 11181356. PMID 38498034.

Further reading

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