Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54809
Gene name	Sterile alpha motif domain containing 9
Gene symbol	SAMD9
Synonyms (NCBI Gene)	C7orf5DRIF1M7MLS2MIRAGENFTCOEF1OEF2
Chromosome	7
Chromosome location	7q21.2
Summary	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

132

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 (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	24029230
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16960814
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0034058	Process	Endosomal vesicle fusion	IDA	24029230
GO:0045087	Process	Innate immune response	IEA

MIM	HGNC	e!Ensembl
610456	1348	ENSG00000205413

Q5K651

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

7KSP

Family and domains

Pfam

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatem

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

298

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2535353132	RCV005601917
MIRAGE syndrome	Likely pathogenic; Pathogenic	rs1791570014, rs1435946172, rs2535358325, rs2535352584, rs1584254152, rs1584253343, rs1584251938, rs2535352835, rs2535357784, rs2535361498, rs2535359490, rs2535358818, rs1064795431, rs1554336981, rs1554336974, rs1584253388, rs1247438528 View all (2 more)	RCV001330969 RCV001843938 RCV002466797 RCV003148091 RCV000239546 RCV000239465 RCV000239516 RCV005250303 RCV003444018 RCV003448932 RCV003992107 RCV004595049 RCV003387520 RCV001281104 RCV000677708 RCV000984532 RCV001281105
Monosomy 7 myelodysplasia and leukemia syndrome 2	Likely pathogenic; Pathogenic	rs2535353132, rs1247438528, rs759775100, rs1791586314	RCV002470231 RCV003989666 RCV001270305 RCV001270306
Normophosphatemic familial tumoral calcinosis	Pathogenic; Likely pathogenic	rs121918554, rs1554337424, rs1247438528	RCV000001288 RCV000672720 RCV005038023
SAMD9-related disorder	Pathogenic; Likely pathogenic	rs1435946172, rs1247438528	RCV004552049 RCV004548112
See cases	Pathogenic; Likely pathogenic	rs2535354223, rs2535358833	RCV004584505 RCV003232947

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Diffuse midline glioma, H3 K27-altered	Uncertain significance	rs2535361704	RCV003314778
Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance	rs780121260	RCV005626535
Hereditary cancer	Conflicting classifications of pathogenicity	rs367869345	RCV004698874
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs759155667, rs770339001	RCV005626582 RCV005626387
Myelodysplastic syndrome	Conflicting classifications of pathogenicity	rs556478940	RCV002310620

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	36060959
Abortion Spontaneous	Associate	36060959
Addison Disease	Associate	34659124
Adrenal Insufficiency	Associate	29506479, 30403727, 34659124
Anemia	Associate	36060959
Atherosclerosis	Associate	16960814
Autoimmune Diseases	Associate	16960814
Autoimmune enteropathy	Associate	31306780, 31620126, 32787808, 36060959
Bone Marrow Failure Disorders	Associate	28346228, 31306780, 31620126, 32054657, 38597819
Calcinosis	Associate	16960814, 21160498, 26901061
Carcinoma Hepatocellular	Associate	39511689
Cardiomyopathy Dilated	Associate	37745698
Chromosome 7 monosomy	Associate	28346228, 29146883, 30046003, 31620126, 32770553, 36060959
Congenital Bone Marrow Failure Syndromes	Associate	29146883
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	31620126
COVID 19	Associate	38115996
Cyclic neutropenia	Associate	36087523
Cytomegalovirus Infections	Associate	31620126
Deafness	Associate	31638924
Death	Associate	37160314
Deglutition Disorders	Associate	31638924
Developmental Disabilities	Associate	35046037
Diabetes Gestational	Associate	30403727, 36060959
Diarrhea	Associate	37745698
Disorder of Sex Development 46 XY	Associate	30403727
Disorders of Sex Development	Associate	30403727
Fetal Growth Retardation	Associate	28346228, 29506479, 31306780, 36060959
Fever	Associate	31620126
Gastrointestinal Diseases	Associate	31620126
Gastrointestinal Neoplasms	Associate	31620126
Glioma	Associate	33936093, 34815785
Growth Disorders	Associate	36060959
Guillain Barre Syndrome	Associate	38115996
Hematologic Diseases	Associate	31306780
Hereditary renal agenesis	Associate	29146883
Hypoadrenocorticism Familial	Associate	29506479, 31208161, 31306780, 36060959
Hypoalphalipoproteinemias	Associate	36060959
Hypospadias	Associate	36060959
Hypothyroidism	Associate	36060959
Immunologic Deficiency Syndromes	Associate	31620126
Infections	Associate	29506479, 31306780, 31638924
Inflammation	Associate	18094730, 19865099, 21160498, 31620126
Intussusception	Associate	34659124
Leukemia Myeloid	Associate	30046003
Leukemia Myeloid Acute	Associate	30046003, 36087523, 37160314
Leukemia Myelomonocytic Juvenile	Associate	19358830
Lung Diseases	Associate	36060959
Metabolic Diseases	Associate	19865099
Monosomy 7 of Bone Marrow	Associate	30046003
Multiple Organ Failure	Associate	31638924
Multiple System Atrophy	Associate	30046003, 36060959
Myelocerebellar Disorder	Associate	31306780
Myelodysplastic Syndromes	Associate	28346228, 30046003, 31306780, 32770553, 34621053, 35046037, 36087523, 37160314
Neoplasms	Inhibit	19358830, 26901061, 35046037
Neoplasms	Associate	19865099, 27959387, 30046003, 33936093, 34815785
Nephrotic Syndrome	Associate	32787808
Neural Tube Defects	Associate	31306780, 39276527
Neutropenia	Associate	31620126
Obesity Morbid	Associate	31306780
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	36087523
Pelvic Pain	Stimulate	32727237
Sepsis	Associate	31620126, 31638924
Signs and Symptoms Digestive	Associate	31620126
Silver Russell Syndrome	Associate	36060959
Skin Diseases	Associate	21160498
Soft Tissue Injuries	Associate	18094730
Thiamine responsive megaloblastic anemia syndrome	Associate	31638924
Thrombocytopenia	Associate	34659124
Thrombocytopenia Neonatal Alloimmune	Associate	30403727
Tooth Erosion	Associate	31620126
Tumoral Calcinosis Hyperphosphatemic Familial	Associate	16960814
Tumoral Calcinosis Normophosphatemic Familial	Associate	16960814, 18094730, 19865099
Tumoral Calcinosis Normophosphatemic Familial	Inhibit	21160498
Wounds and Injuries	Associate	18094730

SAMD9 (sterile alpha motif domain containing 9)