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Aliases for SAMD9 Gene

Aliases for SAMD9 Gene

  • Sterile Alpha Motif Domain Containing 9 2 3
  • SAM Domain-Containing Protein 9 3 4
  • C7orf5 3 4
  • DRIF1 3 4
  • NFTC 3 6
  • 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
  • OEF2 3

External Ids for SAMD9 Gene

Previous Symbols for SAMD9 Gene

  • C7orf5

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 normocalcemic tumoral calcinosis and tumoral calcinosis, familial, normophosphatemic. 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

Genomic Location for SAMD9 Gene

Start:
93,099,513 bp from pter
End:
93,118,023 bp from pter
Size:
18,511 bases
Orientation:
Minus strand

Genomic View for SAMD9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAMD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD9 Gene

Regulatory Elements for SAMD9 Gene

Proteins for SAMD9 Gene

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

    Protein Symbol:
    Q5K651-SAMD9_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 9
    Protein Accession:
    Q5K651
    Secondary Accessions:
    • A2RU68
    • Q5K649
    • Q6P080
    • Q75N21
    • Q8IVG6
    • Q9NXS8

    Protein attributes for SAMD9 Gene

    Size:
    1589 amino acids
    Molecular mass:
    184281 Da
    Quaternary structure:
    • Interacts with RGL2.
    SequenceCaution:
    • 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 for SAMD9 Gene

Gene Families for SAMD9 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for SAMD9 Gene

UniProtKB/Swiss-Prot:

SAMD9_HUMAN
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q5K651
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

miRNA for SAMD9 Gene

miRTarBase miRNAs that target SAMD9

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SAMD9 Gene

Localization for SAMD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SAMD9: view

Pathways 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369292%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000317955%0d%0a
Selected Interacting proteins: ENSP00000369292 Q5K651-SAMD9_HUMAN for SAMD9 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for SAMD9 Gene

None

No data available for Pathways by source for SAMD9 Gene

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
SAMD9
ECgene alternative splicing isoforms for
SAMD9

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 (8.6) and Whole Blood (4.6).

Integrated Proteomics: protein expression 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

Q5K651-SAMD9_HUMAN
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 expressions with SAMD9: view

Orthologs for SAMD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SAMD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD9 36
  • 99.56 (n)
  • 99.43 (a)
SAMD9 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAMD9 36
  • 86.38 (n)
  • 80.58 (a)
SAMD9 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMD9 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563091 36
  • 82.13 (n)
  • 77.24 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 54 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii BX537350.1 37
  • 27 (a)
ManyToMany
CU633740.1 37
  • 36 (a)
ManyToMany
CU929417.2 37
  • 34 (a)
ManyToMany
LOC101886156 36
  • 53.37 (n)
  • 42.31 (a)
si:ch1073-209h18.1 37
  • 36 (a)
ManyToMany
si:ch211-113e8.9 37
  • 35 (a)
ManyToMany
si:ch211-141h20.6 37
  • 38 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SAMD9 (if available)
TreeFam:
Gene Tree for SAMD9 (if available)

Paralogs for SAMD9 Gene

Paralogs for SAMD9 Gene

Selected 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 MAF
rs2374627 -- 93,106,641(+) CACAC(A/G)TGAAG intron-variant
rs3802064 -- 93,102,273(-) TACTT(C/T)GTCCT synonymous-codon, reference
rs3802065 -- 93,101,015(-) AACCC(C/T)ACTAC utr-variant-3-prime
rs3839837 -- 93,100,657(-) AAAAA(-/A)CATAC utr-variant-3-prime
rs4478506 -- 93,110,329(+) gaaaa(A/T)ccggt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5845 CNV Loss 18451855

Relevant External Links for SAMD9 Gene

HapMap Linkage Disequilibrium report
SAMD9
Human Gene Mutation Database (HGMD)
SAMD9

Disorders for SAMD9 Gene

(1) OMIM Diseases for SAMD9 Gene (610456)

UniProtKB/Swiss-Prot

SAMD9_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for SAMD9 Gene

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

Publications for SAMD9 Gene

  1. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (PMID: 16960814) Topaz O. … Sprecher E. (Am. J. Hum. Genet. 2006) 3 4

Products for SAMD9 Gene

Sources for SAMD9 Gene

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