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Aliases for SAMD9 Gene

Aliases for SAMD9 Gene

  • Sterile Alpha Motif Domain Containing 9 2 3 5
  • SAM Domain-Containing Protein 9 3 4
  • C7orf5 3 4
  • DRIF1 3 4
  • OEF1 3 4
  • Expressed In Aggressive Fibromatosis 3
  • Chromosome 7 Open Reading Frame 5 2
  • KIAA2004 4
  • NFTC 3
  • OEF2 3

External Ids for SAMD9 Gene

Previous HGNC Symbols for SAMD9 Gene

  • C7orf5

Previous GeneCards Identifiers for SAMD9 Gene

  • GC07M092373
  • GC07M092566
  • GC07M092728
  • GC07M087337

Summaries for SAMD9 Gene

Entrez Gene Summary for SAMD9 Gene

  • 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 tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

GeneCards Summary for SAMD9 Gene

SAMD9 (Sterile Alpha Motif Domain Containing 9) is a Protein Coding gene. Diseases associated with SAMD9 include Tumoral Calcinosis, Familial, Normophosphatemic and Calcinosis. An important paralog of this gene is SAMD9L.

UniProtKB/Swiss-Prot for SAMD9 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD9 Gene

Genomics for SAMD9 Gene

Regulatory Elements for SAMD9 Gene

Enhancers for SAMD9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SAMD9 on UCSC Golden Path with GeneCards custom track

Promoters for SAMD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SAMD9 on UCSC Golden Path with GeneCards custom track

Genomic Location for SAMD9 Gene

93,099,513 bp from pter
93,118,023 bp from pter
18,511 bases
Minus strand

Genomic View for SAMD9 Gene

Genes around SAMD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD9 Gene

Proteins for SAMD9 Gene

  • Protein details for SAMD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sterile alpha motif domain-containing protein 9
    Protein Accession:
    Secondary Accessions:
    • A2RU68
    • Q5K649
    • Q6P080
    • Q75N21
    • Q8IVG6
    • Q9NXS8

    Protein attributes for SAMD9 Gene

    1589 amino acids
    Molecular mass:
    184281 Da
    Quaternary structure:
    • Interacts with RGL2.
    • Sequence=AAH65769.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAQ04689.3; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAA90932.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC23101.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SAMD9 Gene

Proteomics data for SAMD9 Gene at MOPED

Post-translational modifications for SAMD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAMD9 Gene

No data available for DME Specific Peptides for SAMD9 Gene

Domains & Families for SAMD9 Gene

Gene Families for SAMD9 Gene

Protein Domains for SAMD9 Gene

Suggested Antigen Peptide Sequences for SAMD9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SAM (sterile alpha motif) domain.
genes like me logo Genes that share domains with SAMD9: view

Function for SAMD9 Gene

Molecular function for SAMD9 Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by TNF-alpha through p38 MAPKs and NF-kappa-B. Up-regulated by osmotic shock. Induced by IFNG.

Phenotypes for SAMD9 Gene

GenomeRNAi human phenotypes for SAMD9:
genes like me logo Genes that share phenotypes with SAMD9: view

Human Phenotype Ontology for SAMD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SAMD9 Gene

miRTarBase miRNAs that target SAMD9

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD9 Gene

Localization for SAMD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD9 Gene


Subcellular locations from

Jensen Localization Image for SAMD9 Gene COMPARTMENTS Subcellular localization image for SAMD9 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for SAMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16960814
genes like me logo Genes that share ontologies with SAMD9: view

Pathways & Interactions for SAMD9 Gene

SuperPathways for SAMD9 Gene

No Data Available

Interacting Proteins for SAMD9 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000369292 Q5K651-SAMD9_HUMAN for SAMD9 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for SAMD9 Gene


No data available for Pathways by source and SIGNOR curated interactions for SAMD9 Gene

Drugs & Compounds for SAMD9 Gene

No Compound Related Data Available

Transcripts for SAMD9 Gene

Unigene Clusters for SAMD9 Gene

Sterile alpha motif domain containing 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD9 Gene

No ASD Table

Relevant External Links for SAMD9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SAMD9 Gene

mRNA expression in normal human tissues for SAMD9 Gene

mRNA differential expression in normal tissues according to GTEx for SAMD9 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.6) and Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for SAMD9 Gene

This gene is overexpressed in Cervix (28.3) and Lymph node (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SAMD9 Gene

SOURCE GeneReport for Unigene cluster for SAMD9 Gene Hs.65641

mRNA Expression by UniProt/SwissProt for SAMD9 Gene

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 normophosphatemic tumoral calcinosis (NFTC).
genes like me logo Genes that share expression patterns with SAMD9: view

Protein tissue co-expression partners for SAMD9 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SAMD9 Gene

Orthologs for SAMD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SAMD9 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SAMD9 35
  • 86.38 (n)
  • 80.58 (a)
SAMD9 36
  • 81 (a)
(Pan troglodytes)
Mammalia SAMD9 35
  • 99.56 (n)
  • 99.43 (a)
SAMD9 36
  • 99 (a)
(Rattus norvegicus)
Mammalia RGD1563091 35
  • 82.13 (n)
  • 77.24 (a)
(Monodelphis domestica)
Mammalia SAMD9 36
  • 80 (a)
(Gallus gallus)
Aves -- 36
  • 49 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
(Danio rerio)
Actinopterygii LOC101886156 35
  • 53.37 (n)
  • 42.31 (a)
BX537350.1 36
  • 27 (a)
CU633740.1 36
  • 36 (a)
CU929417.2 36
  • 34 (a)
si:ch1073-209h18.1 36
  • 36 (a)
si:ch211-113e8.9 36
  • 35 (a)
si:ch211-141h20.6 36
  • 38 (a)
Species with no ortholog for SAMD9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAMD9 Gene

Gene Tree for SAMD9 (if available)
Gene Tree for SAMD9 (if available)

Paralogs for SAMD9 Gene

Paralogs for SAMD9 Gene

(1) SIMAP similar genes for SAMD9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SAMD9: view

Variants for SAMD9 Gene

Sequence variations from dbSNP and Humsavar for SAMD9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6969691 - 93,105,670(+) CTTCT(A/G)TGAGC reference, missense
rs10239435 - 93,104,752(+) CTCCA(C/T)TGATG reference, missense
rs10279499 - 93,104,453(+) ATCCA(A/C/T)AGAGG reference, missense
VAR_031529 Tumoral calcinosis, normophosphatemic, familial (NFTC)
rs6957832 -- 93,108,745(+) gcaag(C/G)ctggg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD9 Gene

Variant ID Type Subtype PubMed ID
nsv5845 CNV Loss 18451855

Variation tolerance for SAMD9 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAMD9 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD9 Gene

Disorders for SAMD9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SAMD9 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tumoral calcinosis, familial, normophosphatemic
  • normophosphatemic familial tumoral calcinosis
  • pathologic calcification
familial tumoral calcinosis
- elite association - COSMIC cancer census association via MalaCards
Search SAMD9 in MalaCards View complete list of genes associated with diseases


  • Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455]: An uncommon, life-threatening 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 and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. {ECO:0000269 PubMed:16960814, ECO:0000269 PubMed:18094730}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SAMD9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SAMD9: view

No data available for Genatlas for SAMD9 Gene

Publications for SAMD9 Gene

  1. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (PMID: 21160498) Hershkovitz D. … Sprecher E. (J. Invest. Dermatol. 2011) 3 4 67
  2. SAMD9 is an innate antiviral host factor with stress response properties that can be antagonized by poxviruses. (PMID: 25428864) Liu J. … McFadden G. (J. Virol. 2015) 3
  3. Identification of Restriction Factors by Human Genome-Wide RNA Interference Screening of Viral Host Range Mutants Exemplified by Discovery of SAMD9 and WDR6 as Inhibitors of the Vaccinia Virus K1L-C7L- Mutant. (PMID: 26242627) Sivan G. … Moss B. (MBio 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SAMD9 Gene

Sources for SAMD9 Gene