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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
  • Sterile Alpha Motif Domain-Containing Protein 9 3
  • Expressed In Aggressive Fibromatosis 3
  • Chromosome 7 Open Reading Frame 5 2
  • KIAA2004 4
  • MIRAGE 3
  • 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 Mirage Syndrome. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F093115 1.2 FANTOM5 ENCODE 9 +0.7 659 4.6 TBP ZNF133 RFX5 YY1 ZNF121 RCOR1 FOS NFYA NFYC JUNB SAMD9 SAMD9L VPS50 GC07P093054
GH07F092807 1.7 FANTOM5 Ensembl ENCODE 4.2 +308.6 308583 4.1 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 CBX5 FOS KLF13 LOC101927497 CDK6 FAM133B MTERF1 CYP51A1 SAMD9 RBM48 PEX1 GC07M092702 RNU6-10P
GH07F092902 1.6 FANTOM5 Ensembl ENCODE 2.9 +213.6 213587 2.9 PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 CBX5 FOS JUNB TSHZ1 FAM133B PEX1 SAMD9 CDK6 GC07M092971 GC07M092972
GH07F092638 1.6 FANTOM5 Ensembl ENCODE 2.9 +474.6 474550 10.3 HDGF PKNOX1 TBL1XR1 KLF17 SIN3A BMI1 GATA2 ETV6 FOS CREM CDK6 LOC101927497 FAM133B GATAD1 KRIT1 ANKIB1 SAMD9 GC07M092611 RNU6-10P GC07M092702
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000067793 723 2601 TBP ZNF133 RFX5 YY1 ZNF121 RCOR1 FOS JUNB TBX21 POLR2H

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

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.

Gene Ontology (GO) - Molecular Function for SAMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24029230
genes like me logo Genes that share ontologies with SAMD9: view

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

miRNA for SAMD9 Gene

miRTarBase miRNAs that target SAMD9

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMD9 gene
Compartment Confidence
cytosol 5
endosome 4

Gene Ontology (GO) - Cellular Components for SAMD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16960814
GO:0043231 intracellular membrane-bounded organelle IDA --
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

Gene Ontology (GO) - Biological Process for SAMD9 Gene


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

Transcripts for SAMD9 Gene

Unigene Clusters for SAMD9 Gene

Sterile alpha motif domain containing 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SAMD9 Gene

Protein tissue co-expression partners for SAMD9 Gene

NURSA nuclear receptor signaling pathways regulating expression of SAMD9 Gene:


SOURCE GeneReport for Unigene cluster for SAMD9 Gene:


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

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
(Pan troglodytes)
Mammalia SAMD9 34 35
  • 99.56 (n)
(Bos Taurus)
Mammalia SAMD9 34 35
  • 86.38 (n)
(Rattus norvegicus)
Mammalia RGD1563091 34
  • 82.13 (n)
(Monodelphis domestica)
Mammalia SAMD9 35
  • 80 (a)
(Gallus gallus)
Aves -- 35
  • 49 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
(Danio rerio)
Actinopterygii LOC101886156 34
  • 53.37 (n)
si:ch211-141h20.6 35
  • 38 (a)
CU633740.1 35
  • 36 (a)
si:ch1073-209h18.1 35
  • 36 (a)
si:ch211-113e8.9 35
  • 35 (a)
CU929417.2 35
  • 34 (a)
BX537350.1 35
  • 27 (a)
Species where no ortholog for SAMD9 was found in the sources mined by GeneCards:
  • 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
rs121918554 Tumoral calcinosis, normophosphatemic, familial (NFTC) [MIM:610455], Pathogenic 93,101,615(-) TTCAC(A/G)AAGGA reference, missense
rs10229795 -- 93,107,663(+) TATTG(C/T)TTTCT intron-variant
rs10233715 -- 93,117,648(+) TTCAA(C/T)TGCAT intron-variant
rs10234975 -- 93,112,637(+) aatca(A/C)aagca intron-variant
rs10235462 -- 93,112,840(+) tcatg(A/G)atagg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5845 CNV deletion 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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SAMD9 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tumoral calcinosis, familial, normophosphatemic
  • tumoral calcinosis, normophosphatemic, familial
mirage syndrome
  • myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy
  • 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. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. (PMID: 27182967) Narumi S. … Hasegawa T. (Nat. Genet. 2016) 2 3 64
  2. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (PMID: 21160498) Hershkovitz D. … Sprecher E. (J. Invest. Dermatol. 2011) 3 4 64
  3. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (PMID: 18094730) Chefetz I. … Sprecher E. (J. Invest. Dermatol. 2008) 3 4 64
  4. Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse. (PMID: 17407603) Li C.F. … Alman B.A. (BMC Genomics 2007) 3 4 64
  5. A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (PMID: 16960814) Topaz O. … Sprecher E. (Am. J. Hum. Genet. 2006) 3 4 64

Products for SAMD9 Gene

Sources for SAMD9 Gene

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