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SAMD9L Gene

protein-coding GIFtS: 46

GC07M092597

sterile alpha motif domain containing 9-like
(Previous name: chromosome 7 open reading frame 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C7orf6)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
C7orf6 ^², ³
DRIF2 ^², ³
FLJ39885 ^¹, ²
KIAA2005 ^¹, ², ³
UEF ^³
UEF1 ^²

Descriptions
chromosome 7 open reading frame 6 ^¹
sterile alpha motif domain containing 9-like ^²

External Ids
HGNC: 1349¹
Entrez Gene: 219285²
UniProtKB: Q8IVG5³
Ensembl: ENSG00000177409⁷

Search outside databases for aliases for SAMD9L gene

Previous GC identifer: GC07M092405

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(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)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SAMD9L gene

Entrez Gene cytogenetic band: 7q21.2-q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.2

SAMD9L 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 GC07M092597: (about GC identifiers)

Start:	92,597,304 bp from pter
End:	92,615,616 bp from pter
Size:	18,313 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 92,088,687-92,106,998

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: SAM9L_HUMAN, Q8IVG5 (See protein sequence)

Recommended Name: Sterile alpha motif domain-containing protein 9-like

Size: 1584 amino acids; 184533 Da

Sequence caution: Sequence=AAI27118.1; Type=Frameshift; Positions=1259; Sequence=AAI27119.1;

Type=Frameshift; Positions=1516;

Secondary accessions: A0JP23 A0JP24 A0PJG8 A4D1G8 Q2TV71 Q2TV75 Q2UZV8 Q8IWI4 Q8N3L9 Q8N875

Alternative splicing: 2 isoforms: Q8IVG5-1 Q8IVG5-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_689916.2

ENSEMBL proteins:

ENSP00000326247 ENSP00000377983

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse Abnova for Human Recombinant Proteins

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

Antibodies for SAMD9L:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for SAMD9L
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	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 SAMD9L

Assays for SAMD9L:

	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 Q8IVG5

ProtoNet protein and cluster: Q8IVG5

1 Blocks protein family: IPB001660 Sterile alpha motif SAM

UniProtKB/Swiss-Prot: SAM9L_HUMAN, Q8IVG5

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 (SAMD9L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152703

Applied Biosystems Silencer® siRNAs for SAMD9L

Sigma-Aldrich siRNA for SAMD9L

Sigma-Aldrich shRNA for SAMD9L

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_152703
Myc/DDK tagged cDNA clone in CMV expression vector: NM_152703
untagged cDNA clones in CMV expression vector (see all 2): NM_152703

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_152703

(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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2 Interacting proteins for SAMD9L (ENSP00000326247³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SAMSN1	ENSP00000374091³	STRING (score=.815)
USF1	ENSP00000356999³	STRING (score=.702)

About this table

(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 SAMD9L

(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 (SAMD9L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152703

Sigma-Aldrich siRNA for SAMD9L

Sigma-Aldrich shRNA for SAMD9L

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_152703

REFSEQ mRNAs for SAMD9L gene:

NM_152703.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_152703

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_152703
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_152703
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_152703

Additional cDNA sequence:

AB095926.1 AF474973.1 AK026672.1 AK097204.1 AK304307.1 AK304779.1 AL832264.1 AL834232.1

AY195582.1 AY195583.1 AY195584.1 AY195585.1 AY195586.1 AY195587.1 AY195588.1 BC029108.1

BC038974.1 BC127117.1 BC127118.1 DQ068177.1

4 DOTS entries:

DT.303533 DT.95322412 DT.91701818 DT.121046737

24/92 AceView cDNA sequences (see all 92 ):

BC029108 AI457736 BE675526 AA490264 BQ433442 BU507807 AA490365 AW675618

AL832264 AW294127 AK097204 AI139687 BG236517 AI674920 BF058148 AA988857

NM_152703 BM470525 AA648507 AI087313 AA253288 BU190148 AW337195 AB095926

highest scoring ESTs for SAMD9L:

AA215579 AB095926 AI038997 AI309599 CB267658 CB957001 W19045 AA215765 AA622528 AA648507

Unigene Cluster for SAMD9L:

Sterile alpha motif domain containing 9-like

Hs.489118 [show with all ESTs]

Unigene Representative Sequence: NM_152703

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD9L

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6
SP1:
SP2:							-				-
SP3:					-		-

About this scheme

ECgene alternative splicing isoforms for SAMD9L

2 Ensembl transcripts including schematic representations:

ENST00000318238 ENST00000394472

(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 )
About This Section

SAMD9L expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SAMD9L

¹ / ² / ³

10 probe-sets matching SAMD9L 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
51024_at²^{, 3}	U95-B	1	1.00	1.00	0.98	1.19	AI400509	0.60	1.00	0.82	1
90663_at²^{, 3}	U95-D	1	1.00	1.00	0.95	1.01	AA215579	0.80	1.00	0.91	1
80928_at²^{, 3}	U95-E	1	1.00	1.00	0.96	1.45	AI309599	0.80	1.00	0.91	1
74867_at²^{, 3}	U95-E	1	0.94	1.00	-0.13	0.38	AI038997	0.80	1.00	0.91	1
235643_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BE886225	0.60	1.00	0.82	1
230036_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BE669858	0.40	1.00	0.76	1
226603_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BE966604	0.40	1.00	0.76	1
235643_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
230036_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
226603_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SAMD9L 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.489118
UniProtKB/Swiss-Prot: SAM9L_HUMAN, Q8IVG5
Tissue specificity: Widely expressed in adult and fetal tissues. Variable expression in tumors.
Down-regulated in breast cancer

(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 SAMD9L gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SAMD9L¹	--	sterile alpha motif domain containing 9-like	86.03(n) 79.9(a)	482305 XM_539422.2 XP_539422.2
chimpanzee (Pan troglodytes)	SAMD9L¹	--	sterile alpha motif domain containing 9-like	99.49(n) 99.37(a)	472444 XM_527818.2 XP_527818.2
rat (Rattus norvegicus)	Samd9l¹	--	sterile alpha motif domain containing 9-like	79.88(n) 72.98(a)	500015 XM_575369.2 XP_575369.1
mouse (Mus musculus)	Samd9l^{1, 5}	6 (2.90 cM)⁵	sterile alpha motif domain containing 9-like^{1, 5}	79.69(n)¹ 72.74(a)¹	209086¹ XM_620286.3¹ XP_620286.1¹ AA175286⁵ AA267211⁵ (see all 17)
chicken (Gallus gallus)	SAMD9L¹	--	sterile alpha motif domain containing 9-like	62.36(n) 53.05(a)	420559 XM_418660.2 XP_418660.2

About this table Species with no ortholog for SAMD9L

ENSEMBL Gene Tree for SAMD9L

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

Paralogs for SAMD9L gene

SAMD9²

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

10/82 NCBI SNPs in SAMD9L are shown (see all 82 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 28)

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
				--	--	--		--	--			--
	rs10236444^1,2	A,C,F,H	92598005(+)	`CACATA/GAGTTT`	1	--	ut3¹		7	NA EU EA WA	562
	rs28662^1,2	C,F,H,O	92612955(+)	`ATGTTC/TGAACA`	1	--	ut5¹		10	NA EA EU WA	805
	rs4267^1,2	C,F,H,O	92597398(+)	`TTCCAA/GGCTCT`	1	--	ut3¹		19	NA PA EA MN EU WA	1650
	rs4268^1,2	A,C,F,H	92598438(+)	`TAAACG/ATATTT`	1	--	ut3¹ ese³		12	NA PA MN EU EA WA	972
	rs10282508^1,2	C,F,H	92598674(+)	`CTTCAT/GTTTTT`	1	T/N	mis¹ trp³		8	EU EA WA	840
	rs17165111^1,2	C,F,H	92599811(+)	`TGTTCC/GCATCC`	1	G/A	mis¹		11	NA EU EA WA	970
	rs2073793^1,2	C,F,H	92602355(+)	`CCACAA/GACCTT`	1	F/S	mis¹ ese³		9	EA EU WA	2320
	rs10488532^1,2	C,F,H	92602425(+)	`CATTAC/TATTGA`	1	V/I	mis¹		16	NS EU EA WA NA	1088
	rs3752615^1,2	H	92612687(+)	`GTCTTC/TATGAG`	1	--	ut5¹ ese³		4	EU EA WA	420
	rs1029357^1,2	A,C,F,H,O	92600617(+)	`CCAAAA/GGCTCT`	1	A/A	syn¹		18	NA EA MN EU WA	1647

About this table

HapMap Linkage Disequilibrium images for SAMD9L (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: 611170

(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

7 PubMed articles for SAMD9L gene:

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)
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 full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)⁴ Bechtel S....Schupp I. (2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)⁴ Olsen J.V....Mann M. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
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)

(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: 219285	HGNC: 1349	AceView: C7orf6	Ensembl:ENSG00000177409	euGenes: HUgn219285
ECgene: SAMD9L	H-InvDB: SAMD9L

(According to HUGE)
About This Section

HUGE: KIAA2005

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for SAMD9L
(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 SAMD9L:

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 SAMD9L-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 SAMD9L		Antibodies for SAMD9L
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SAMD9L Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for SAMD9L

Summaries
for SAMD9L

Genomic Location
for SAMD9L

Proteins
for SAMD9L

Protein Domains/
Families
for SAMD9L

Gene Function
for SAMD9L

Pathways & Interactions
for SAMD9L

Drugs & Compounds
for SAMD9L

Transcripts
for SAMD9L

Expression
for SAMD9L

Orthologs
for SAMD9L

Paralogs
for SAMD9L

SNPs/Variants
for SAMD9L

Disorders & Mutations
for SAMD9L

Medical News
for SAMD9L

Publications
for SAMD9L

Search for SAMD9L

Genome Databases showing SAMD9L

Other Databases showing SAMD9L

Specialized Databases showing SAMD9L

Licensable Technologies
for SAMD9L

Services
for SAMD9L

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

SAMD9L Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor SAMD9L

Summariesfor SAMD9L

Genomic Locationfor SAMD9L

Proteinsfor SAMD9L

Protein Domains/Familiesfor SAMD9L

Gene Functionfor SAMD9L

Pathways & Interactionsfor SAMD9L

Drugs & Compoundsfor SAMD9L

Transcriptsfor SAMD9L

Expression for SAMD9L

Orthologsfor SAMD9L

Paralogsfor SAMD9L

SNPs/Variantsfor SAMD9L

Disorders & Mutationsfor SAMD9L

Medical Newsfor SAMD9L

Publicationsfor SAMD9L

Search for SAMD9L

Genome Databases showing SAMD9L

Other Databases showing SAMD9L

Specialized Databases showing SAMD9L

Licensable Technologiesfor SAMD9L

Servicesfor SAMD9L

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 SAMD9L

Summaries
for SAMD9L

Genomic Location
for SAMD9L

Proteins
for SAMD9L

Protein Domains/
Families
for SAMD9L

Gene Function
for SAMD9L

Pathways & Interactions
for SAMD9L

Drugs & Compounds
for SAMD9L

Transcripts
for SAMD9L

Expression
for SAMD9L

Orthologs
for SAMD9L

Paralogs
for SAMD9L

SNPs/Variants
for SAMD9L

Disorders & Mutations
for SAMD9L

Medical News
for SAMD9L

Publications
for SAMD9L

Licensable Technologies
for SAMD9L

Services
for SAMD9L