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SAMD7 Gene

protein-coding   GIFtS: 40
GCID: GC03P169629

Sterile Alpha Motif Domain Containing 7

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sterile Alpha Motif Domain Containing 71 2
SAM Domain-Containing Protein 72 3
Sterile Alpha Motif Domain-Containing Protein 72

External Ids:    HGNC: 253941   Entrez Gene: 3446582   Ensembl: ENSG000001870337   UniProtKB: Q7Z3H43   

Export aliases for SAMD7 gene to outside databases

Previous GC identifers: GC03P170950 GC03P171112 GC03P166999


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SAMD7 Gene:
SAMD7 (sterile alpha motif domain containing 7) is a protein-coding gene. Diseases associated with SAMD7 include ureteral obstruction. An important paralog of this gene is PHC1.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SAMD7 gene promoter:
         HOXA9B   HOXA9   ER-alpha   AML1a   Lmo2   MEF-2A   aMEF-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAMD7 promoter sequence
   Search Chromatin IP Primers for SAMD7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SAMD7


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

Entrez Gene cytogenetic band: 3q26.2   Ensembl cytogenetic band:  3q26.2   HGNC cytogenetic band: 3q26.31

SAMD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD7 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P169629:  view genomic region     (about GC identifiers)

Start:
169,629,360 bp from pter      End:
169,656,963 bp from pter
Size:
27,604 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SAMD7_HUMAN, Q7Z3H4 (See protein sequence)
Recommended Name: Sterile alpha motif domain-containing protein 7  
Size: 446 amino acids; 49112 Da

Explore the universe of human proteins at neXtProt for SAMD7: NX_Q7Z3H4

Explore proteomics data for SAMD7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SAMD7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_872416.1  
    ENSEMBL proteins: 
     ENSP00000391299   ENSP00000334668   ENSP00000420460  

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

    3 InterPro protein domains:
     IPR021129 SAM_type1
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry Q7Z3H4

    ProtoNet protein and cluster: Q7Z3H4

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SAMD7_HUMAN, Q7Z3H4
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    SAMD7 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SAMD7 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SAMD7:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSAMD7 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SAMD7
    Interactions:

        Search GeneGlobe Interaction Network for SAMD7

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SAMD7



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SAMD7 gene: 
    NM_182610.2  

    Unigene Cluster for SAMD7:

    Sterile alpha motif domain containing 7
    Hs.439922  [show with all ESTs]
    Unigene Representative Sequence: BX648991
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428432(uc003fgd.3) ENST00000335556(uc003fge.3 uc011bpo.2)
    ENST00000487910
    miRNA
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    hsa-miR-548a-3p hsa-miR-548e hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSAMD7 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SAMD7
      QuantiFast Probe-based Assays in human, mouse, rat SAMD7

    Additional mRNA sequence: 

    BC117339.1 BC143909.1 BX537903.1 BX648534.1 BX648989.1 BX648991.1 

    2 DOTS entries:

    DT.97762263  DT.101981753 

    9 AceView cDNA sequences:

    BX648534 BX537903 BX648991 NM_182610 BX648989 AL711948 AA059000 AA058977 
    W28179 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD7    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                    -                                             
    SP2:                                                                  


    ECgene alternative splicing isoforms for SAMD7

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SAMD7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SAMD7 Expression
    About this image


    SAMD7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
    SAMD7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SAMD7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439922
        Custom PCR Arrays for SAMD7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD7

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SAMD7 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Samd71 , 5 sterile alpha motif domain containing 71, 5 77.55(n)1
    66.89(a)1
      3 (14.27 cM)5
    759531  NM_029489.31  NP_083765.21 
     307462935 
    chicken
    (Gallus gallus)
    Aves SAMD76
    sterile alpha motif domain containing 7
    38(a)
    1 ↔ 1
    9(19367689-19374184)
    lizard
    (Anolis carolinensis)
    Reptilia SAMD76
    sterile alpha motif domain containing 7
    44(a)
    1 ↔ 1
    3(7890589-7908420)
    zebrafish
    (Danio rerio)
    Actinopterygii samd76
    sterile alpha motif domain containing 7
    29(a)
    1 ↔ 1
    2(36947844-36963370) ENSDARG00000060354
    fruit fly
    (Drosophila melanogaster)
    Insecta Samuel6
    SAM-motif ubiquitously expressed punctatedly local...
    8(a)
    1 → many
    2L(11013221-11066997)


    ENSEMBL Gene Tree for SAMD7 (if available)
    TreeFam Gene Tree for SAMD7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SAMD7 gene
    PHC12  PHC32  PHC22  SAMD112  

    SAMD7 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SAMD7 (see all 709)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918856351,2
    Cuntested1169639114(+) CCAGTC/TGGATC 2 R W mis10--------
    rs3750913791,2
    C--169627617(+) CGGGC-/CCT   
       GTAGT
    CTGTA
    1 -- us2k10--------
    rs571770441,2
    C--169627619(+) GCGCC-/TGT   
       AGTCC
    CAGCT
    1 -- us2k10--------
    rs67925181,2
    C--169627754(+) acaaaA/Caaaca 1 -- us2k1 tfbs30--------
    rs76372011,2
    C,F,A,H--169627767(+) aacaaA/Caaaaa 1 -- us2k16Minor allele frequency- C:0.36NA WA 14
    rs1998775421,2
    C--169627767(+) AACAA-/CAAAAA 1 -- us2k10--------
    rs1452912361,2
    --169627805(+) ATAAAC/TGCTAA 1 -- us2k10--------
    rs1491626371,2
    --169627855(+) AAAGAC/TAGTTT 1 -- us2k10--------
    rs1464352211,2
    --169627875(+) TAGGGC/TAAAGG 1 -- us2k10--------
    rs1390138961,2
    C--169627905(+) ATAAGA/TTGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SAMD7 (169629360 - 169656963 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SAMD7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726188CNV Deletion23290073
    esv2663940CNV Deletion23128226
    nsv460987CNV Loss19166990
    nsv877976CNV Gain21882294
    nsv7356OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SAMD7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for SAMD7:    
    About MalaCards
    ureteral obstruction


    SAMD7 for disorders           About GeneDecksing


    Export disorders for SAMD7 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)
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    PubMed articles for SAMD7 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SAMD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina. (PubMed id 23565263)1 Hlawatsch J....Langmann T. (PLoS ONE 2013)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 344658 HGNC: 25394 AceView: SAMD7 Ensembl:ENSG00000187033 euGenes: HUgn344658
    ECgene: SAMD7 H-InvDB: SAMD7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SAMD7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SAMD7 gene:
    Search GeneIP for patents involving SAMD7

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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