U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 54809, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SAMD9 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93099518..93117979, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94341541..94360001, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SAMD9L

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001193307.2NP_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:1275
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
      smart00454
      Location:1277
      SAM; Sterile alpha motif
    2. NM_017654.4NP_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:1275
      SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
      smart00454
      Location:1277
      SAM; Sterile alpha motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)