SAMD9 Gene
protein-coding GIFtS: 46
GCID: GC07M092728
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sterile alpha motif domain containing 9(Previous name: chromosome 7 open reading frame 5 )
(Previous symbol: C7orf5)
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Aliases
for SAMD9 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Sterile Alpha Motif Domain Containing 91 2 | | NFTC2 5 | | C7orf51 2 3 | | FLJ200731 | | KIAA20041 3 | | Chromosome 7 Open Reading Frame 51 | | DRIF12 3 | | OEF22 | | OEF12 3 | | Expressed In Aggressive Fibromatosis2 | | SAM Domain-Containing Protein 92 3 | | Sterile Alpha Motif Domain-Containing Protein 92 |
Export aliases for SAMD9 gene to outside databasesPrevious GC identifers: GC07M092373 GC07M092566 GC07M087337 |
Summaries
for SAMD9 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SAMD9:
This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm andmay play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause ofnormophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encodethe same protein.(provided by RefSeq, Jul 2010)
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651Function: May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification,acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2
Gene Wiki entry for SAMD9
|
Genomic Views
for SAMD9 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SAMD9 gene promoter:
AML1a Pax-6 HSF1 (long) NF-AT NF-AT4 NF-AT2 NF-AT3 HSF1short Pax-4a NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for SAMD9
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD9 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2SAMD9 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M092728: view genomic region
(about GC identifiers)
Start:
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92,728,826 bp from pter |
End:
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92,747,336 bp from pter |
Size:
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18,511 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 92,058,134-92,076,644 |
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Proteins
for SAMD9 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651 (See
protein sequence)Recommended Name: Sterile alpha motif domain-containing protein 9 Size: 1589 amino acids; 184281 Da
Subunit: Interacts with RGL2
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAH65769.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence; Sequence=AAQ04689.3; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;Sequence=BAA90932.1; Type=Erroneous initiation; Sequence=BAC23101.1; Type=Erroneous initiation;
Secondary accessions: A2RU68 Q5K649 Q6P080 Q75N21 Q8IVG6 Q9NXS8Explore the universe of human proteins at neXtProt for SAMD9: NX_Q5K651
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5K651
SAMD9 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001180236.1 NP_060124.2
ENSEMBL proteins: ENSP00000369292 ENSP00000414529
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IDA | -- | | GO:0043231 | intracellular membrane-bounded organelle |
IDA | -- |
SAMD9 for ontologies About GeneDecksing
SAMD9 Antibody Products:
Assay Products for SAMD9: |
Protein
Domains /
Families
for SAMD9 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SAMD9 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5K651ProtoNet protein and cluster: Q5K651 2 Blocks protein families: IPB001660 Sterile alpha motif SAM IPB011510 Sterile alpha motif homology 2
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651Similarity: Contains 1 SAM (sterile alpha motif) domain |
Function
for SAMD9 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651Function: May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification,acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2Induction: Up-regulated by TNF-alpha through p38 MAPKs and NF-kappa-B. Up-regulated by osmotic shock. Induced by INFG
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD9
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD9 |
|
Pathways & Interactions
for SAMD9 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAMD9
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for SAMD9 (ENSP000003692924) via UniProtKB, MINT, STRING, and/or I2DAbout this table
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Drugs & Compounds
for SAMD9 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SAMD9
Search CenterWatch for drugs/clinical trials and news about SAMD9
|
Transcripts
for SAMD9 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SAMD9 gene (2 alternative transcripts): NM_001193307.1 NM_017654.3 Unigene Cluster for SAMD9: Sterile alpha motif domain containing 9 Hs.65641 [show with all ESTs]Unigene Representative Sequence: NM_0176542 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379958(uc003umf.3 uc003umg.3) ENST00000446617
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD9
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD9
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SAMD9 (NM_017654) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SAMD9 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD9 |
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): BM541593 AK000080 AW449632 BQ050746 NM_017654 AI950623 BM474521 BX447355 BM975811 AK125131 CN478600 AA745549 BU509659 CB321996 AB095925 AA830166 BE673232 CB134607 CA313457 CB123846 AA742993 AI476716 AK125101 BG615970
GeneLoc Exon Structure
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Expression
for SAMD9 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SAMD9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See SAMD9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SAMD9
SOURCE GeneReport for Unigene cluster: Hs.65641
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651Tissue 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 frompatients with normophosphatemic tumoral calcinosis (NFTC)
SABiosciences Custom PCR Arrays for SAMD9
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAMD9
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD9 |
Orthologs
for SAMD9 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of chordates.
Orthologs for SAMD9 gene from 3/8 species (see all 8) About this table
ENSEMBL Gene Tree for SAMD9 (if available)
TreeFam Gene Tree for SAMD9 (if available) |
Paralogs
for SAMD9 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SAMD9 gene
- SAMD9L2
1 SIMAP similar gene for SAMD9 using alignment to 2 protein entries: SAMD9_HUMAN (see all proteins):SAMD9L
SAMD9 for paralogs About GeneDecksing
|
Genomic Variants
for SAMD9 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SAMD9 (92728826 - 92747336 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SAMD9: --
Human Gene Mutation Database (HGMD): SAMD9
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SAMD9 |
|
Disorders
/ Diseases
for SAMD9 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SAMD9 for disorders About GeneDecksing
OMIM gene information: 610456
OMIM disorders: 610455
UniProtKB/Swiss-Prot: SAMD9_HUMAN, Q5K651
Defects in SAMD9 are the cause of tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455]. Anuncommon disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues.Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions, massive calciumdeposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption ininfancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in whichtissue calcification occurs as a consequence of tissue injury/inflammation
7  diseases for SAMD9: About MalaCardsnormophosphatemic familial tumoral calcinosis familial tumoral calcinosis calcinosis fibromatosis
malignant glioma myxoma colon cancer
1 disease from the University of Copenhagen DISEASES database for SAMD9:Calcinosis Export disorders for SAMD9 gene to outside databases
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Publications
for SAMD9 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SAMD9 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with SAMD9) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Functional characterization of SAMD9, a protein defic ient in normophosphatemic familial tumoral calcinosis. (PubMed id 21160498)1, 2 Hershkovitz D....Sprecher E. (2011)
- Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (PubMed id 18094730)1, 2 Chefetz I....Sprecher E. (2008)
- Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse. (PubMed id 17407603)1, 2 Li C.F.... Alman B.A. (2007)
- A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (PubMed id 16960814)1, 2 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)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
- M062 is a host range factor essential for myxoma viru s pathogenesis and functions as an antagonist of host SAMD9 in human cells. (PubMed id 21248034)1 Liu J....McFadden G. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
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External Searches for SAMD9 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SAMD9 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SAMD9 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SAMD9 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SAMD9 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SAMD9 gene:
Search GeneIP for patents involving SAMD9
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SAMD9 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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