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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SAMD12 Gene

protein-coding   GIFtS: 40
GCID: GC08M119270

Sterile Alpha Motif Domain Containing 12

  Search for SAMD12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sterile Alpha Motif Domain Containing 121 2
SAM Domain-Containing Protein 122 3
Sterile Alpha Motif Domain-Containing Protein 122

External Ids:    HGNC: 317501   Entrez Gene: 4014742   Ensembl: ENSG000001775707   UniProtKB: Q8N8I03   

Export aliases for SAMD12 gene to outside databases

Previous GC identifers: GC08M119459 GC08M114528


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SAMD12 Gene: 
SAMD12 (sterile alpha motif domain containing 12) is a protein-coding gene. An important paralog of this gene is SAMD10.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAMD12 gene promoter:
         Nkx3-1   C/EBPbeta   AP-1   Nkx3-1 v1   CREB   Nkx3-1 v2   Nkx6-1   deltaCREB   Nkx3-1 v3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAMD12 promoter sequence
   Search SABiosciences Chromatin IP Primers for SAMD12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.12   Ensembl cytogenetic band:  8q24.12   HGNC cytogenetic band: 8q24.12

SAMD12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD12 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M119270:  view genomic region     (about GC identifiers)

Start:
119,201,694 bp from pter      End:
119,634,234 bp from pter
Size:
432,541 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SAM12_HUMAN, Q8N8I0 (See protein sequence)
Recommended Name: Sterile alpha motif domain-containing protein 12  
Size: 201 amino acids; 22907 Da
Secondary accessions: Q0P502

Explore the universe of human proteins at neXtProt for SAMD12: NX_Q8N8I0

Explore proteomics data for SAMD12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N8I0

  • SAMD12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAMD12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001095146.1  NP_997389.2  

    ENSEMBL proteins: 
     ENSP00000402786   ENSP00000435927   ENSP00000387605   ENSP00000314173   ENSP00000431360  
     ENSP00000434079   ENSP00000387133  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----

    SAMD12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SAMD: Sterile alpha motif (SAM) domain containing

    3 InterPro protein domains:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR011510 SAM_2

    Graphical View of Domain Structure for InterPro Entry Q8N8I0

    ProtoNet protein and cluster: Q8N8I0

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SAM12_HUMAN, Q8N8I0
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    SAMD12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding ----
         
    SAMD12 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidSAMD12 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAMD12

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SAMD12 (SAM12)

    Search CenterWatch for drugs/clinical trials and news about SAMD12 / SAM12

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SAMD12 gene (2 alternative transcripts): 
    NM_001101676.1  NM_207506.2  

    Unigene Clusters for SAMD12:

    Sterile alpha motif domain containing 12
    Hs.359393  [show with all ESTs], Hs.701196  [show with all ESTs]
    Unigene Representative Sequences: NM_001101676, AV724325
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453675 ENST00000524796 ENST00000445741 ENST00000527515 ENST00000314727(uc003yom.2)
    ENST00000526328 ENST00000526765 ENST00000409003(uc010mda.1 uc010mdb.1)

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    8/198 QIAGEN miScript miRNA Assays for microRNAs that regulate SAMD12 (see all 198):
    hsa-miR-579 hsa-miR-361-5p hsa-miR-640 hsa-miR-520f hsa-miR-106a hsa-miR-199a-3p hsa-miR-605 hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidSAMD12 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: EF212289.1 

    12 DOTS entries:

    DT.97822079  DT.99936242  DT.92024917  DT.206268  DT.75176359  DT.91647065  DT.206267  DT.91664629 
    DT.92005670  DT.97785533  DT.40201986  DT.99986063 

    8 AceView cDNA sequences:

    BF058494 BM930432 NM_207506 BG387404 AK096777 BM728028 BF516219 CD690574 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SAMD12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATGTATT
    SAMD12 Expression
    About this image


    See SAMD12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAMD12

    SOURCE GeneReport for Unigene clusters: Hs.359393 Hs.701196
        SABiosciences Custom PCR Arrays for SAMD12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SAMD12 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Samd121 , 5 sterile alpha motif domain containing 121, 5 89.6(n)1
    93.63(a)1
      15 (21.10 cM)5
    3206791  NM_177225.41  NP_796199.11 
     534616215 
    chicken
    (Gallus gallus)
    Aves SAMD121 sterile alpha motif domain containing 12 77.48(n)
    81.46(a)
      420282  XM_418395.3  XP_418395.3 
    lizard
    (Anolis carolinensis)
    Reptilia SAMD126
    sterile alpha motif domain containing 12
    80(a)
    1 ↔ 1
    GL343269.1(567282-658598)
    zebrafish
    (Danio rerio)
    Actinopterygii samd121 sterile alpha motif domain containing 12 65.31(n)
    68.71(a)
      797592  XM_001338025.2  XP_001338061.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ave6
    aveugle
    34(a)
    1 → many
    2R(10640031-10640774)


    ENSEMBL Gene Tree for SAMD12 (if available)
    TreeFam Gene Tree for SAMD12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAMD12 gene
    SAMD102  
    1 SIMAP similar gene for SAMD12 using alignment to 7 protein entries:     SAM12_HUMAN (see all proteins):
    SAMD10

    SAMD12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SAMD12
    PGOHUM00000243530


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/9254 SNPs in SAMD12 are shown (see all 9254)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1815164231,2
    --119201239(+) CAGGAC/GGTGCT 1 -- int10--------
    rs174518661,2
    C,H--119201306(+) AAATCA/C/GGTGGG 1 -- int15NS EA CSA 420
    rs115626661,2
    C,F,H--119201362(+) GAGGGG/ATGAAG 1 -- int111Minor allele frequency- A:0.01NA NS EA CSA WA 829
    rs803450801,2
    C,F--119201383(+) CTATCG/ATCCAG 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1403893411,2
    C--119201419(+) CAGTCA/GTTGCA 1 -- int10--------
    rs175071241,2
    C,F,H--119201443(+) GATTTG/TGTGCT 1 -- int15Minor allele frequency- T:0.04NS EA WA 534
    rs1870459801,2
    --119201448(+) GGTGCC/TGGGGG 1 -- int10--------
    rs175071311,2
    C,F,H--119201451(+) GCTGGG/AGGAAT 1 -- int15Minor allele frequency- A:0.03NS EA WA 536
    rs1901954381,2
    --119201452(+) CTGGGA/GGAATT 1 -- int10--------
    rs174846321,2
    C,F,H--119201503(+) ACATAT/CATTAT 1 -- int16Minor allele frequency- C:0.06NS EA WA 538

    HapMap Linkage Disequilibrium report for SAMD12 (119201694 - 119451694 bp, first 250kb of SAMD12)

    Structural Variations
         Database of Genomic Variants (DGV) 10/31 variations for SAMD12 (see all 31):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2467119CNV Deletion19546169
    esv2737481CNV Deletion23290073
    esv1943293CNV Deletion18987734
    esv1337695CNV Deletion17803354
    esv2661900CNV Deletion23128226
    esv1928288CNV Deletion18987734
    esv2737482CNV Deletion23290073
    esv3203CNV Deletion18987735
    nsv6361CNV Insertion18451855
    esv2499592CNV Insertion19546169

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SAMD12 for disorders           About MalaCards

    SAMD12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SAMD12
    Human Genome Epidemiology (HuGE) Navigator: SAMD12 (2 documents)

    Export disorders for SAMD12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SAMD12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SAMD12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. A genome-wide association study of brain lesion distri bution in multiple sclerosis. (PubMed id 23412934)1 Gourraud P.A....Baranzini S.E. (2013)
    3. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (2007)
    4. Structured RNAs in the ENCODE selected regions of the human genome. (PubMed id 17568003)1 Washietl S....Stadler P.F. (2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 401474 HGNC: 31750 AceView: SAMD12 Ensembl:ENSG00000177570 euGenes: HUgn401474
    ECgene: SAMD12 H-InvDB: SAMD12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SAMD12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SAMD12 gene:
    Search GeneIP for patents involving SAMD12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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