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SAMD9 Gene

protein-coding GIFtS: 47

GC07M092566

sterile alpha motif domain containing 9
(Previous name: chromosome 7 open reading frame 5 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C7orf5)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
C7orf5 ^², ³
DRIF1 ^³
FLJ20073 ^¹, ²
KIAA2004 ^¹, ², ³
NFTC ^², ⁵
OEF1 ^², ³
OEF2 ^²

Descriptions
chromosome 7 open reading frame 5 ^¹
expressed in aggressive fibromatosis ^²
sterile alpha motif domain containing 9 ^²

External Ids
HGNC: 1348¹
Entrez Gene: 54809²
UniProtKB: Q5K651³
Ensembl: ENSG00000205413⁷

Search outside databases for aliases for SAMD9 gene

Previous GC identifer: GC07M092373

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Gene Wiki entry for SAMD9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SAMD9 gene

Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2

SAMD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M092566: (about GC identifiers)

Start:	92,566,767 bp from pter
End:	92,585,272 bp from pter
Size:	18,506 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 92,058,139-92,076,630

RefSeq DNA sequence:

NC_000007.12 NT_007933.14 NT_079595.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651 (See protein sequence)

Recommended Name: Sterile alpha motif domain-containing protein 9

Size: 1589 amino acids; 184281 Da

Subcellular location: Cytoplasm (Probable)

Sequence caution: Sequence=AAH65769.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.

Potential poly-A sequence; Sequence=AAQ04689.3; Type=Miscellaneous discrepancy; Note=Unlikely

isoform. Aberrant splice sites;

Secondary accessions: A2RU68 Q5K649 Q6P080 Q75N21 Q8IVG6 Q9NXS8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_060124.2

ENSEMBL proteins:

ENSP00000369292

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

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Antibodies for SAMD9:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for SAMD9
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for SAMD9

Assays for SAMD9:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q5K651

ProtoNet protein and cluster: Q5K651

2 Blocks protein families:

IPB001660 Sterile alpha motif SAM

IPB011510 Sterile alpha motif homology 2

UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651

Similarity: Contains 1 SAM (sterile alpha motif) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SAMD9)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017654

Applied Biosystems Silencer® siRNAs for SAMD9

Sigma-Aldrich siRNA for SAMD9

Sigma-Aldrich shRNA for SAMD9

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_017654
Myc/DDK tagged cDNA clone in CMV expression vector: NM_017654
untagged cDNA clone in CMV expression vector: NM_017654

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_017654

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Interacting proteins for SAMD9 (ENSP00000369292³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SAMSN1	ENSP00000374091³	STRING (score=.871)
FGF23	ENSP00000237837³	STRING (score=.732)
--	ENSP00000233685³	STRING (score=.791)

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SAMD9

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SAMD9)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017654

Sigma-Aldrich siRNA for SAMD9

Sigma-Aldrich shRNA for SAMD9

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_017654

REFSEQ mRNAs for SAMD9 gene:

NM_017654.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_017654

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017654
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_017654
                                 untagged cDNA clone in CMV expression vector: NM_017654

Additional cDNA sequence:

AB095925.2 AF445355.1 AF453311.3 AK000080.1 AK122951.1 AK125101.1 AK125131.1 AK225201.1

BC065769.1 BC132773.1 BC132775.1 BC150249.1 BX647072.1

3 DOTS entries:

DT.100757636 DT.100785880 DT.108686

24/90 AceView cDNA sequences (see all 90 ):

BM975811 BQ050746 BM541593 CN478600 CB123846 AB095925 BX447355 AK125131

AI950623 AA745549 CB134607 AA830166 BE673232 CA313457 CB321996 BU509659

NM_017654 BM474521 AW449632 AK000080 BG674534 BU520888 AI476716 BX093644

highest scoring ESTs for SAMD9:

AA741307 AB095925 AK122951 BC065769 BG615970 BG942089 BX447355 BX457116 BX473839 BX473904

Unigene Cluster for SAMD9:

Sterile alpha motif domain containing 9

Hs.65641 [show with all ESTs]

Unigene Representative Sequence: NM_017654

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000379958

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SAMD9 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SAMD9

¹ / ² / ³

6 probe-sets matching SAMD9 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
62528_at²^{, 3}	U95-C	1	1.00	1.00	0.99	1.06	AA741307	0.80	1.00	0.91	1
54215_at²^{, 3}	U95-C	1	1.00	1.00	0.87	0.96	AA742993	0.60	1.00	0.82	1
228531_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA741307	0.80	1.00	0.91	1
219691_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_017654	0.60	1.00	0.82	1
228531_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
219691_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SAMD9 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.65641
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651
Tissue specificity: Widely expressed. Very low levels in skeletal muscle. Not detected in fetal
brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SAMD9 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	SAMD9¹	--	sterile alpha motif domain containing 9	99.56(n) 99.43(a)	472443 XM_001167211.1 XP_001167211.1
cow (Bos taurus)	SAMD9¹	--	sterile alpha motif domain containing 9	86.38(n) 80.58(a)	514205 XM_592017.3 XP_592017.3
rat (Rattus norvegicus)	RGD1563091¹	--	similar to OEF2	82.09(n) 77.24(a)	500011 XM_575365.2 XP_575365.2

About this table Species with no ortholog for SAMD9

ENSEMBL Gene Tree for SAMD9

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for SAMD9 gene

SAMD9L²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/79 NCBI SNPs in SAMD9 are shown (see all 79 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 35)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs10953089^1,2	A,C,F,H	92566363(+)	`TTTTAC/TATTTT`	1	--	ng5¹		4	EU EA WA	418
	rs6969691^1,2	A,C,F,H	92572919(+)	`CTTCTA/GTGAGC`	1	I/T	mis¹ ese³		12	EA NA EU WA	1056
	rs10953090^1,2	A,C,H	92566464(+)	`CATAGA/GAGCAG`	1	--	ng5¹		1	WA	118
	rs10279499^1,2	C,F,H	92571702(+)	`ATCCAC/AAGAGG`	1	L/V	mis¹ ese³		16	EA NA EU WA	1418
	rs3802065^1,2	C,F,H	92568264(-)	`AACCCC/TACTAC`	1	--	ut3¹ ese³		7	NA EU EA WA	560
	rs10239435^1,2	C,F,H	92572001(+)	`CTCCAT/CTGATG`	1	S/N	mis¹ ese³		8	EU EA WA	838
	rs10277338^1,2	C,F,H	92566734(+)	`atataC/Tctata`	1	--	ng5¹		4	EU EA WA	390
	rs12333976^1,2	F,H	92567497(+)	`gaattG/Tcaaat`	1	--	ut3¹		4	EU EA WA	410
	rs6960328^1,2	H	92571677(+)	`TCTCAA/CTGAGG`	1	I/S	mis¹		4	EU EA WA	420
	rs12333457^1,2	H	92567220(+)	`tatctA/Cgtctg`	1	--	ut3¹ ese³		4	EU EA WA	420

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HapMap Linkage Disequilibrium images for SAMD9 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 610456 disorders: 610455

UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651

Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC)

[MIM:610455]. NFTC is an uncommon life-threatening disorder characterized by massive

periarticular, and seldom visceral, deposition of calcified tumors

Human Gene Mutation Database: SAMD9

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/12 PubMed articles for SAMD9 gene (see all 12 ):

Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse. (PubMed id 17407603)^{3, 4} Li C.F.... Alman B.A. (2007)
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (PubMed id 16960814)^{3, 4} Topaz O.... Sprecher E. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{3, 4} Scherer S.W....Tsui L.C. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{3, 4} Hillier L.W.... Wilson R.K. (2003)
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (PubMed id 18094730)³ Chefetz I....Sprecher E. (2008)
[SAMD9 mutation in normophosphatemic familial tumoral calcinosis] (PubMed id 17507861)³ Dereure O. (2007)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Toward a complete human genome sequence. (PubMed id 9847074)³ (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 54809	HGNC: 1348	AceView: SAMD9	Ensembl:ENSG00000205413	euGenes: HUgn54809
ECgene: SAMD9	H-InvDB: SAMD9

(According to HUGE)
About This Section

HUGE: KIAA2004

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for SAMD9
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for SAMD9:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SAMD9-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for SAMD9		Antibodies for SAMD9
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for SAMD9		Browse small molecules at Sigma-Aldrich
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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SAMD9 Gene

protein-coding GIFtS: 47

Aliases &
Descriptions
for SAMD9

Summaries
for SAMD9

Genomic Location
for SAMD9

Proteins
for SAMD9

Protein Domains/
Families
for SAMD9

Gene Function
for SAMD9

Pathways & Interactions
for SAMD9

Drugs & Compounds
for SAMD9

Transcripts
for SAMD9

Expression
for SAMD9

Orthologs
for SAMD9

Paralogs
for SAMD9

SNPs/Variants
for SAMD9

Disorders & Mutations
for SAMD9

Medical News
for SAMD9

Publications
for SAMD9

Search for SAMD9

Genome Databases showing SAMD9

Other Databases showing SAMD9

Specialized Databases showing SAMD9

Licensable Technologies
for SAMD9

Services
for SAMD9

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SAMD9 Gene

protein-coding GIFtS: 47

Aliases & Descriptionsfor SAMD9

Summariesfor SAMD9

Genomic Locationfor SAMD9

Proteinsfor SAMD9

Protein Domains/Familiesfor SAMD9

Gene Functionfor SAMD9

Pathways & Interactionsfor SAMD9

Drugs & Compoundsfor SAMD9

Transcriptsfor SAMD9

Expression for SAMD9

Orthologsfor SAMD9

Paralogsfor SAMD9

SNPs/Variantsfor SAMD9

Disorders & Mutationsfor SAMD9

Medical Newsfor SAMD9

Publicationsfor SAMD9

Search for SAMD9

Genome Databases showing SAMD9

Other Databases showing SAMD9

Specialized Databases showing SAMD9

Licensable Technologiesfor SAMD9

Servicesfor SAMD9

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SAMD9

Summaries
for SAMD9

Genomic Location
for SAMD9

Proteins
for SAMD9

Protein Domains/
Families
for SAMD9

Gene Function
for SAMD9

Pathways & Interactions
for SAMD9

Drugs & Compounds
for SAMD9

Transcripts
for SAMD9

Expression
for SAMD9

Orthologs
for SAMD9

Paralogs
for SAMD9

SNPs/Variants
for SAMD9

Disorders & Mutations
for SAMD9

Medical News
for SAMD9

Publications
for SAMD9

Licensable Technologies
for SAMD9

Services
for SAMD9