SAMD9

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).

SAMD9
Identifiers
Aliases	SAMD9, C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2
External IDs	OMIM: 610456; HomoloGene: 75072; GeneCards: SAMD9; OMA:SAMD9 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.2 Start 93,099,513 bp[1] End 93,118,023 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid oral cavity buccal mucosa cell mucosa of pharynx gums gingival epithelium palpebral conjunctiva decidua epithelium of nasopharynx trabecular bone n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm intracellular membrane-bounded organelle cytosol early endosome Biological process endosomal vesicle fusion Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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]