GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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SAMD9 (sterile alpha motif domain containing 9)

Gene

Sterile alpha motif domain containing 9

SAMD9

C7orf5, DRIF1, M7MLS2, MIRAGE, NFTC, OEF1, OEF2

7

7q21.2

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 tumora

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918554	T>C	Pathogenic	Missense variant, coding sequence variant
rs201122403	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs572380130	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant
rs753146043	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795431	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1186536794	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1554336974	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554336981	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554337067	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554337424	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584251663	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584251938	G>A	Pathogenic	Missense variant, coding sequence variant
rs1584252276	GCCTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584253343	C>T	Pathogenic	Missense variant, coding sequence variant
rs1584253388	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584254152	C>T	Pathogenic	Missense variant, coding sequence variant
rs1584254471	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(132)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028548	hsa-miR-30a-5p	Proteomics	18668040
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT1325637	hsa-miR-219-2-3p	CLIP-seq
MIRT1325638	hsa-miR-2964a-3p	CLIP-seq
MIRT1325639	hsa-miR-3156-5p	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT1325643	hsa-miR-4452	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT1325648	hsa-miR-518a-5p	CLIP-seq
MIRT1325649	hsa-miR-520a-5p	CLIP-seq
MIRT1325650	hsa-miR-525-5p	CLIP-seq
MIRT1325651	hsa-miR-527	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2096583	hsa-miR-3182	CLIP-seq
MIRT2096584	hsa-miR-4699-3p	CLIP-seq
MIRT2096585	hsa-miR-4729	CLIP-seq
MIRT2096586	hsa-miR-520d-5p	CLIP-seq
MIRT2096587	hsa-miR-524-5p	CLIP-seq
MIRT2096588	hsa-miR-616	CLIP-seq
MIRT2616870	hsa-miR-103b	CLIP-seq
MIRT2616871	hsa-miR-1231	CLIP-seq
MIRT2616872	hsa-miR-1278	CLIP-seq
MIRT2616873	hsa-miR-129-5p	CLIP-seq
MIRT2616874	hsa-miR-1302	CLIP-seq
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT2616875	hsa-miR-23a	CLIP-seq
MIRT2616876	hsa-miR-23b	CLIP-seq
MIRT2616877	hsa-miR-23c	CLIP-seq
MIRT2616878	hsa-miR-3122	CLIP-seq
MIRT2616879	hsa-miR-3125	CLIP-seq
MIRT2616880	hsa-miR-3161	CLIP-seq
MIRT2616881	hsa-miR-337-3p	CLIP-seq
MIRT2616882	hsa-miR-361-5p	CLIP-seq
MIRT2616883	hsa-miR-3647-3p	CLIP-seq
MIRT2616884	hsa-miR-3658	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT2616885	hsa-miR-3674	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT2616886	hsa-miR-3913-5p	CLIP-seq
MIRT2616887	hsa-miR-3916	CLIP-seq
MIRT2616888	hsa-miR-3925-3p	CLIP-seq
MIRT2616889	hsa-miR-409-3p	CLIP-seq
MIRT2616890	hsa-miR-4263	CLIP-seq
MIRT2616891	hsa-miR-4268	CLIP-seq
MIRT2616892	hsa-miR-4282	CLIP-seq
MIRT2616893	hsa-miR-4298	CLIP-seq
MIRT2616894	hsa-miR-4307	CLIP-seq
MIRT2616895	hsa-miR-4328	CLIP-seq
MIRT2616896	hsa-miR-4422	CLIP-seq
MIRT2616897	hsa-miR-4446-5p	CLIP-seq
MIRT2616898	hsa-miR-4448	CLIP-seq
MIRT2616899	hsa-miR-4645-5p	CLIP-seq
MIRT2616900	hsa-miR-4673	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT2616901	hsa-miR-4795-3p	CLIP-seq
MIRT2616902	hsa-miR-4799-5p	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT2616903	hsa-miR-508-5p	CLIP-seq
MIRT2616904	hsa-miR-5096	CLIP-seq
MIRT2616905	hsa-miR-511	CLIP-seq
MIRT2616906	hsa-miR-513a-3p	CLIP-seq
MIRT2616907	hsa-miR-539	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2616908	hsa-miR-576-5p	CLIP-seq
MIRT2616909	hsa-miR-580	CLIP-seq
MIRT2616910	hsa-miR-605	CLIP-seq
MIRT2616911	hsa-miR-607	CLIP-seq
MIRT2616912	hsa-miR-626	CLIP-seq
MIRT2616913	hsa-miR-654-3p	CLIP-seq
MIRT2616914	hsa-miR-885-5p	CLIP-seq
MIRT2616915	hsa-miR-889	CLIP-seq
MIRT2616870	hsa-miR-103b	CLIP-seq
MIRT2616871	hsa-miR-1231	CLIP-seq
MIRT2616872	hsa-miR-1278	CLIP-seq
MIRT2616873	hsa-miR-129-5p	CLIP-seq
MIRT2616874	hsa-miR-1302	CLIP-seq
MIRT1325636	hsa-miR-2053	CLIP-seq
MIRT2616875	hsa-miR-23a	CLIP-seq
MIRT2616876	hsa-miR-23b	CLIP-seq
MIRT2616877	hsa-miR-23c	CLIP-seq
MIRT2616878	hsa-miR-3122	CLIP-seq
MIRT2616880	hsa-miR-3161	CLIP-seq
MIRT2616881	hsa-miR-337-3p	CLIP-seq
MIRT2616882	hsa-miR-361-5p	CLIP-seq
MIRT2616883	hsa-miR-3647-3p	CLIP-seq
MIRT1325640	hsa-miR-3663-5p	CLIP-seq
MIRT1325641	hsa-miR-3667-3p	CLIP-seq
MIRT2616885	hsa-miR-3674	CLIP-seq
MIRT1325642	hsa-miR-3682-3p	CLIP-seq
MIRT2616886	hsa-miR-3913-5p	CLIP-seq
MIRT2616888	hsa-miR-3925-3p	CLIP-seq
MIRT2616889	hsa-miR-409-3p	CLIP-seq
MIRT2616890	hsa-miR-4263	CLIP-seq
MIRT2616891	hsa-miR-4268	CLIP-seq
MIRT2616892	hsa-miR-4282	CLIP-seq
MIRT2616893	hsa-miR-4298	CLIP-seq
MIRT2616894	hsa-miR-4307	CLIP-seq
MIRT2616895	hsa-miR-4328	CLIP-seq
MIRT2690193	hsa-miR-4419a	CLIP-seq
MIRT2616896	hsa-miR-4422	CLIP-seq
MIRT2616898	hsa-miR-4448	CLIP-seq
MIRT2690194	hsa-miR-4510	CLIP-seq
MIRT2616899	hsa-miR-4645-5p	CLIP-seq
MIRT2616900	hsa-miR-4673	CLIP-seq
MIRT1325644	hsa-miR-4677-3p	CLIP-seq
MIRT1325645	hsa-miR-4679	CLIP-seq
MIRT1325646	hsa-miR-4686	CLIP-seq
MIRT2616901	hsa-miR-4795-3p	CLIP-seq
MIRT2616902	hsa-miR-4799-5p	CLIP-seq
MIRT1325647	hsa-miR-483-3p	CLIP-seq
MIRT2616903	hsa-miR-508-5p	CLIP-seq
MIRT2616904	hsa-miR-5096	CLIP-seq
MIRT2616905	hsa-miR-511	CLIP-seq
MIRT2616906	hsa-miR-513a-3p	CLIP-seq
MIRT2616907	hsa-miR-539	CLIP-seq
MIRT1325652	hsa-miR-569	CLIP-seq
MIRT2616908	hsa-miR-576-5p	CLIP-seq
MIRT2616909	hsa-miR-580	CLIP-seq
MIRT2616910	hsa-miR-605	CLIP-seq
MIRT2616911	hsa-miR-607	CLIP-seq
MIRT2616912	hsa-miR-626	CLIP-seq
MIRT2616913	hsa-miR-654-3p	CLIP-seq
MIRT2616914	hsa-miR-885-5p	CLIP-seq
MIRT2616915	hsa-miR-889	CLIP-seq

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24029230
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	16960814
GO:0005829	Component	Cytosol	IDA
GO:0034058	Process	Endosomal vesicle fusion	IDA	24029230
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA

MIM	HGNC	e!Ensembl
610456	1348	ENSG00000205413

Protein

UniProt ID

Protein name

Sterile alpha motif domain-containing protein 9 (SAM domain-containing protein 9)

Protein function

Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue inju

PDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07647	SAM_2	11 → 66	SAM domain (Sterile alpha motif)	Domain

Sequence

MAKQLNLPENTDDWTKEDVNQWLESHKIDQKHREILTEQDVNGAVLKWLKKEHLVDMGIT
HGPAIQIEELFKELRKTAIEDSIQTSKMGKPSKNAPKDQTVSQKERRETSKQKQKGKENP
DMANPSAMSTTAKGSKSLKVELIEDKIDYTKERQPSIDLTCVSYPFDEFSNPYRYKLDFS
LQPETGPGNLIDPIHEFKAFTNTATATEEDVKMKFSNEVFRFASACMNSRTNGTIHFGVK
DKPHGKIVGIKVTNDTKEALINHFNLMINKYFEDHQVQQAKKCIREPRFVEVLLPNSTLS
DRFVIEVDIIPQFSECQYDYFQIKMQNYNNKIWEQSKKFSLFVRDGTSSKDITKNKVDFR
AFKADFKTLAESRKAAEEKFRAKTNKKEREGPKLVKLLTGNQDLLDNSYYEQYILVTNKC
HPDQTKHLDFLKEIKWFAVLEFDPESNINGVVKAYKESRVANLHFPSVYVEQKTTPNETI
STLNLYHQPSWIFCNGRLDLDSEKYKPFDPSSWQRERASDVRKLISFLTHEDIMPRGKFL
VVFLLLSSVDDPRDPLIETFCAFYQDLKGMENILCICVHPHIFQGWKDLLEARLIKHQDE
ISSQCISALSLEEINGTILKLKSVTQSSKRLLPSIGLSTVLLKKEEDIMTALEIICENEC
EGTLLEKDKNKFLEFKASKEEDFYRGGKVSWWNFYFSSESYSSPFVKRDKYERLEAMIQN
CADSSKPTSTKIIHLYHHPGCGGTTLAMHILWELRKKFRCAVLKNKTVDFSEIGEQVTSL
ITYGAMNRQEYVPVLLLVDDFEEQDNVYLLQYSIQTAIAKKYIRYEKPLVIILNCMRSQN
PEKSARIPDSIAVIQQLSPKEQRAFELKLKEIKEQHKNFEDFYSFMIMKTNFNKEYIENV
VRNILKGQNIFTKEAKLFSFLALLNSYVPDTTISLSQCEKFLGIGNKKAFWGTEKFEDKM
GTYSTILIKTEVIECGNYCGVRIIHSLIAEFSLEELKKSYHLNKSQIMLDMLTENLFFDT
GMGKSKFLQDMHTLLLTRHRDEHEGETGNWFSPFIEALHKDEGNEAVEAVLLESIHRFNP
NAFICQALARHFYIKKKDFGNALNWAKQAKIIEPDNSYISDTLGQVYKSKIRWWIEENGG
NGNISVDDLIALLDLAEHASSAFKESQQQSEDREYEVKERLYPKSKRRYDTYNIAGYQGE
IEVGLYTIQILQLIPFFDNKNELSKRYMVNFVSGSSDIPGDPNNEYKLALKNYIPYLTKL
KFSLKKSFDFFDEYFVLLKPRNNIKQNEEAKTRRKVAGYFKKYVDIFCLLEESQNNTGLG
SKFSEPLQVERCRRNLVALKADKFSGLLEYLIKSQEDAISTMKCIVNEYTFLLEQCTVKI
QSKEKLNFILANIILSCIQPTSRLVKPVEKLKDQLREVLQPIGLTYQFSEPYFLASLLFW
PENQQLDQHSEQMKEYAQALKNSFKGQYKHMHRTKQPIAYFFLGKGKRLERLVHKGKIDQ
CFKKTPDINSLWQSGDVWKEEKVQELLLRLQGRAENNCLYIEYGINEKITIPITPAFLGQ
LRSGRSIEKVSFYLGFSIGGPLAYDIEIV

Sequence length

1589

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mirage syndrome	MIRAGE syndrome	rs1584254152, rs1584253343, rs1584251938, rs1064795431, rs1554336981, rs1554336974, rs1584253388
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	16960814, 18094730, 24029230, 27182967
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	27182967
Normophosphatemic tumoral calcinosis	Familial normophosphatemic tumoral calcinosis	rs121918554, rs1554337424
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tumoral calcinosis	Tumoral Calcinosis, Normophosphatemic, Familial	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	28346228, 18094730, 16960814

Show/Hide Unknown Diseases (14)

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital clubfoot	Congenital clubfoot
Conjunctivitis	Conjunctivitis
Dwarfism	Dwarfism
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Gingivitis	Gingivitis
Hypoglycemia	Hypoglycemia
Hypogonadism	Primary hypogonadism
Hypospadias	Hypospadias
Intestinal diseases	Intestinal Diseases		27182967
Lymphopenia	Lymphopenia
Motor delay	Clumsiness - motor delay
Prostatic neoplasms	Prostatic Neoplasms		29610475
Urogenital abnormalities	Urogenital Abnormalities		27182967
Vertical talus	Vertical Talus

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