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    SAMD9 sterile alpha motif domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 54809, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SAMD9provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:1348
    See related
    Ensembl:ENSG00000205413 MIM:610456; AllianceGenome:HGNC:1348
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFTC; OEF1; OEF2; DRIF1; C7orf5; M7MLS2; MIRAGE
    Summary
    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]
    Expression
    Broad expression in esophagus (RPKM 24.7), spleen (RPKM 9.8) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SAMD9 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93099518..93117979, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94341541..94360001, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92728831..92747292, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18376 Neighboring gene CDK6 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:92651586-92652785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92657799-92658383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92668331-92668846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92669879-92670393 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:92673175-92673906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26278 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26280 Neighboring gene sterile alpha motif domain containing 9 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26282 Neighboring gene HEPACAM family member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Narumi S, et al. Nat Genet, 2016 Jul. PMID 27182967
    2. Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. Csillag B, et al. Pediatr Blood Cancer, 2019 Apr. PMID 30565860
    3. SAMD9 is a (epi-) genetically regulated anti-inflammatory factor activated in RA patients. He P, et al. Mol Cell Biochem, 2019 Jun. PMID 30715670
    4. A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. Perisa MP, et al. Pediatr Blood Cancer, 2019 Jul. PMID 30900330
    5. In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation. Hockings C, et al. Br J Haematol, 2020 Feb. PMID 31900929

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest.
      Title: Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest.
    2. PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.
      Title: PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.
    3. [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].
      Title: [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].
    4. SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3beta/beta-Catenin Signaling.
      Title: SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3β/β-Catenin Signaling.
    5. Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
      Title: Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
    6. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
      Title: Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
    7. Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
      Title: Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
    8. Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
      Title: Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
    9. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
      Title: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
    10. SAMD9 Is Relating With M2 Macrophage and Remarkable Malignancy Characters in Low-Grade Glioma.
      Title: SAMD9 Is Relating With M2 Macrophage and Remarkable Malignancy Characters in Low-Grade Glioma.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    MIRAGE syndrome
    MedGen: C4284088 OMIM: 617053 GeneReviews: MIRAGE Syndrome
    		not available
    Monosomy 7 myelodysplasia and leukemia syndrome 2
    MedGen: C5436668 OMIM: 619041 GeneReviews: Not available
    		not available
    Normophosphatemic familial tumoral calcinosis
    MedGen: C1864861 OMIM: 610455 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Not yet evaluated (Last evaluated 2024-05-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2024-05-14)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: SAMD9L

    Homology

    Clone Names

    • FLJ20073, KIAA2004

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endosomal vesicle fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    sterile alpha motif domain-containing protein 9
    Names
    SAM domain-containing protein 9
    expressed in aggressive fibromatosis

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023419.1 RefSeqGene

      Range
      5045..23506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193307.2 → NP_001180236.1  sterile alpha motif domain-containing protein 9

      See identical proteins and their annotated locations for NP_001180236.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF445355, AK122951, BC132773, BF109390
      Consensus CDS
      CCDS34680.1
      UniProtKB/Swiss-Prot
      A2RU68, Q5K649, Q5K651, Q6P080, Q75N21, Q8IVG6, Q9NXS8
      UniProtKB/TrEMBL
      C9JKF1
      Related
      ENSP00000484636.1, ENST00000620985.4
      Conserved Domains (2) summary
      cd09528
      Location:12 → 75
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
      smart00454
      Location:12 → 77
      SAM; Sterile alpha motif

    2. NM_017654.4 → NP_060124.2  sterile alpha motif domain-containing protein 9

      See identical proteins and their annotated locations for NP_060124.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA628487, AF445355
      Consensus CDS
      CCDS34680.1
      UniProtKB/Swiss-Prot
      A2RU68, Q5K649, Q5K651, Q6P080, Q75N21, Q8IVG6, Q9NXS8
      UniProtKB/TrEMBL
      C9JKF1
      Related
      ENSP00000369292.2, ENST00000379958.3
      Conserved Domains (2) summary
      cd09528
      Location:12 → 75
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
      smart00454
      Location:12 → 77
      SAM; Sterile alpha motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      93099518..93117979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      94341541..94360001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5K651.1 GenPept UniProtKB/Swiss-Prot:Q5K651

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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