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    Samd12 sterile alpha motif domain containing 12 [ Mus musculus (house mouse) ]

    Gene ID: 320679, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Samd12provided by MGI
    Official Full Name
    sterile alpha motif domain containing 12provided by MGI
    Primary source
    MGI:MGI:2444518
    See related
    Ensembl:ENSMUSG00000058656 AllianceGenome:MGI:2444518
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A830094I09Rik
    Summary
    Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 1. Orthologous to human SAMD12 (sterile alpha motif domain containing 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in frontal lobe adult (RPKM 2.2), CNS E18 (RPKM 2.1) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Samd12 in Genome Data Viewer
    Location:
    15 C- D1; 15 21.1 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (53262514..53765926, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (53399113..53902535, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_38673 Neighboring gene STARR-seq mESC enhancer starr_38674 Neighboring gene exostosin glycosyltransferase 1 Neighboring gene STARR-seq mESC enhancer starr_38679 Neighboring gene STARR-seq mESC enhancer starr_38681 Neighboring gene STARR-positive B cell enhancer mm9_chr15:53231912-53232213 Neighboring gene STARR-seq mESC enhancer starr_38683 Neighboring gene STARR-positive B cell enhancer mm9_chr15:53246502-53246803 Neighboring gene predicted gene, 27926 Neighboring gene STARR-seq mESC enhancer starr_38684 Neighboring gene predicted gene, 23200 Neighboring gene microRNA 28c Neighboring gene STARR-seq mESC enhancer starr_38685 Neighboring gene predicted gene 7489 Neighboring gene STARR-seq mESC enhancer starr_38686 Neighboring gene tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) Neighboring gene ribosomal protein L19 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    2. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073
    5. High-efficiency full-length cDNA cloning. Carninci P, et al. Methods Enzymol, 1999. PMID 10349636

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sterile alpha motif domain-containing protein 12
    Names
    SAM domain-containing protein 12

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_177225.4 → NP_796199.1  sterile alpha motif domain-containing protein 12

      See identical proteins and their annotated locations for NP_796199.1

      Status: PROVISIONAL

      Source sequence(s)
      AC122341, AC123675, AC160638
      Consensus CDS
      CCDS37072.1
      UniProtKB/Swiss-Prot
      Q0VE29
      UniProtKB/TrEMBL
      B7ZN34
      Related
      ENSMUSP00000077741.7, ENSMUST00000078673.14
      Conserved Domains (2) summary
      cd09510
      Location:72 → 146
      SAM_aveugle-like; SAM domain of aveugle-like subfamily
      smart00454
      Location:74 → 141
      SAM; Sterile alpha motif

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      53262514..53765926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245660.4 → XP_011243962.1  sterile alpha motif domain-containing protein 12 isoform X2

      UniProtKB/TrEMBL
      B7ZN34
      Conserved Domains (1) summary
      cd09510
      Location:72 → 146
      SAM_aveugle-like; SAM domain of aveugle-like subfamily

    2. XM_006521080.5 → XP_006521143.1  sterile alpha motif domain-containing protein 12 isoform X1

      Conserved Domains (1) summary
      cd09510
      Location:72 → 146
      SAM_aveugle-like; SAM domain of aveugle-like subfamily

    3. XM_006521085.5 → XP_006521148.1  sterile alpha motif domain-containing protein 12 isoform X7

      UniProtKB/TrEMBL
      B7ZN34
      Conserved Domains (1) summary
      cl15755
      Location:72 → 136
      SAM_superfamily; SAM (Sterile alpha motif )

    4. XM_006521081.5 → XP_006521144.1  sterile alpha motif domain-containing protein 12 isoform X3

      UniProtKB/TrEMBL
      B7ZN34
      Conserved Domains (1) summary
      cl15755
      Location:72 → 136
      SAM_superfamily; SAM (Sterile alpha motif )

    5. XM_006521084.5 → XP_006521147.1  sterile alpha motif domain-containing protein 12 isoform X6

      UniProtKB/TrEMBL
      B7ZN34
      Conserved Domains (1) summary
      cd09510
      Location:72 → 146
      SAM_aveugle-like; SAM domain of aveugle-like subfamily

    6. XM_036159467.1 → XP_036015360.1  sterile alpha motif domain-containing protein 12 isoform X4

      UniProtKB/TrEMBL
      B7ZN34
      Conserved Domains (1) summary
      cd09510
      Location:72 → 146
      SAM_aveugle-like; SAM domain of aveugle-like subfamily

    7. XM_006521083.5 → XP_006521146.1  sterile alpha motif domain-containing protein 12 isoform X5

      Conserved Domains (1) summary
      cl15755
      Location:72 → 99
      SAM_superfamily; SAM (Sterile alpha motif )
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VE29.1 GenPept UniProtKB/Swiss-Prot:Q0VE29

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