SAMD9

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
Gene location (Human)
Chr.	Chromosome 7 (human)
End	93,118,023 bp
RNA expression pattern
	Top expressed in
	cavity of mouth; ; thymus; ; blood; ; esophagus; ; palpebral conjunctiva; ; bone marrow;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	GO:0001948 protein binding;
Cellular component	cytoplasm; intracellular membrane-bounded organelle; cytosol; early endosome;
Biological process	endosomal vesicle fusion;
	Sources:Amigo / QuickGO
Orthologs
	54809
	n/a
	ENSG00000205413
	n/a
	Q5K651
	n/a
	NM_017654; NM_001193307
	n/a
	NP_001180236; NP_060124
	n/a
	Wikidata
View/Edit Human

Sterile alpha motif domain-containing protein 9 is a protein that in humans is encoded by the SAMD9 gene.^[3] Mutations in this gene cause MIRAGE syndrome.

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000205413 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: SAMD9 sterile alpha motif domain containing 9".

Further reading[]

Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E (October 2006). "A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis". American Journal of Human Genetics. 79 (4): 759–64. doi:10.1086/508069. PMC 1592555. PMID 16960814.
Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA (April 2007). "Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse". BMC Genomics. 8: 92. doi:10.1186/1471-2164-8-92. PMC 1855325. PMID 17407603.
Dereure O (May 2007). "[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]". Annales de Dermatologie et de Venereologie. 134 (5 Pt 1): 505. doi:10.1016/S0151-9638(07)89230-1. PMID 17507861.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000205413 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: SAMD9 sterile alpha motif domain containing 9".

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