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

SAMD9L Gene

protein-coding   GIFtS: 46
GCID: GC07M092759

sterile alpha motif domain containing 9-like

(Previous name: chromosome 7 open reading frame 6 )
(Previous symbol: C7orf6)
 Explore 6 diseases affiliated with
SAMD9L via our new
 Human Malady Compendium 
Biological research products
for SAMD9L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sterile Alpha Motif Domain Containing 9-Like1 2     FLJ398851
C7orf61 2 3     Chromosome 7 Open Reading Frame 61
KIAA20051 3     UEF12
DRIF22 3     Sterile Alpha Motif Domain-Containing Protein 9-Like2
SAM Domain-Containing Protein 9-Like2 3     UEF3

External Ids:    HGNC: 13491   Entrez Gene: 2192852   Ensembl: ENSG000001774097   OMIM: 6111705   UniProtKB: Q8IVG53   

Export aliases for SAMD9L gene to outside databases

Previous GC identifers: GC07M092405 GC07M092597 GC07M087368


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAMD9L gene promoter:
         MEF-2A   IRF-2   FOXO4   MEF-2   IRF-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SAMD9L promoter sequence
   Search SABiosciences Chromatin IP Primers for SAMD9L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD9L


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

Entrez Gene cytogenetic band: 7q21.2   Ensembl cytogenetic band:  7q21.2   HGNC cytogenetic band: 7q21.2

SAMD9L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD9L gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M092759:  view genomic region     (about GC identifiers)

Start:
92,759,368 bp from pter      End:
92,777,682 bp from pter
Size:
18,315 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 92,088,687-92,106,998     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAM9L_HUMAN, Q8IVG5 (See protein sequence)
Recommended Name: Sterile alpha motif domain-containing protein 9-like  
Size: 1584 amino acids; 184533 Da
Sequence caution: Sequence=AAI27118.1; Type=Frameshift; Positions=1259; Sequence=AAI27119.1; Type=Frameshift;
Positions=1516; Sequence=BAC04975.1; Type=Erroneous initiation; Sequence=BAC23102.1; Type=Erroneous initiation;
Sequence=CAD38910.1; Type=Erroneous initiation;
Secondary accessions: A0JP23 A0JP24 A0PJG8 A4D1G8 D6W5Q6 Q2TV71 Q2TV75 Q2UZV8 Q8IWI4 Q8N3L9 Q8N875
Alternative splicing: 2 isoforms:  Q8IVG5-1   Q8IVG5-2   (No experimental confirmation available. Dubious isoform produced through aberrant splice sites)

Explore the universe of human proteins at neXtProt for SAMD9L: NX_Q8IVG5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IVG5

  • SAMD9L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689916.2  
    ENSEMBL proteins: 
     ENSP00000326247   ENSP00000405760   ENSP00000408796   ENSP00000391699   ENSP00000391387  
     ENSP00000396137   ENSP00000410062  

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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SAMD9L for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry Q8IVG5

    ProtoNet protein and cluster: Q8IVG5

    1 Blocks protein family: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SAM9L_HUMAN, Q8IVG5
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAMD9L
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    hsa-miR-4314 hsa-miR-128 hsa-miR-3681* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSAMD9L 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAMD9L
    OriGene shRNA RFP: SAMD9L
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMD9L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD9L

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Samd9l):
     tumorigenesis 

    SAMD9L for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAMD9L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SAMD9L (Q8IVG53 ENSP000003262474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 SAMD9L
    Search CenterWatch for drugs/clinical trials and news about SAMD9L / SAM9L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SAMD9L gene: 
    NM_152703.2  

    Unigene Cluster for SAMD9L:

    Sterile alpha motif domain containing 9-like
    Hs.489118  [show with all ESTs]
    Unigene Representative Sequence: NM_152703
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318238(uc003umh.1 uc003umj.1 uc003umi.1 uc010lfb.1 uc003umk.1 uc010lfc.1 uc010lfd.1)
    ENST00000411955 ENST00000437805 ENST00000446959 ENST00000439952 ENST00000414791
    ENST00000446033 ENST00000477816

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAMD9L
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate SAMD9L:
    hsa-miR-4314 hsa-miR-128 hsa-miR-3681* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSAMD9L 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAMD9L
    OriGene shRNA RFP: SAMD9L
    OriGene siRNA: SAMD9L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMD9L
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD9L (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD9L (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SAMD9L (NM_152703)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAMD9L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD9L 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAMD9L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMD9L

    Additional cDNA sequence: 

    AB095926.1 AF474973.1 AK026672.1 AK097204.1 AK304307.1 AK304779.1 AL832264.1 AL834232.1 
    AY195582.1 AY195583.1 AY195584.1 AY195585.1 AY195586.1 AY195587.1 AY195588.1 BC029108.1 
    BC038974.1 BC127117.1 BC127118.1 DQ068177.1 

    4 DOTS entries:

    DT.303533  DT.95322412  DT.91701818  DT.121046737 

    24/92 AceView cDNA sequences (see all 92):

    AI087313 BE675526 BG236517 AL832264 AW675618 AK097204 AI139687 BQ433442 
    AW294127 AI674920 BC029108 AA490264 BF058148 BM470525 AA988857 AA490365 
    AW337195 NM_152703 AA253288 BU507807 AB095926 AI457736 AA648507 BU190148 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD9L    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                                                      
    SP2:                    -           -                     
    SP3:              -     -                                 


    ECgene alternative splicing isoforms for SAMD9L

    (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

    SAMD9L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SAMD9L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumCardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Fetal cardiomyocytes (20 weeks) (Primary Cell)Heart, Myocardium

    See SAMD9L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAMD9L

    SOURCE GeneReport for Unigene cluster: Hs.489118

    UniProtKB/Swiss-Prot: SAM9L_HUMAN, Q8IVG5
    Tissue specificity: Widely expressed in adult and fetal tissues. Variable expression in tumors. Down-regulated in
    breast cancer

        SABiosciences Custom PCR Arrays for SAMD9L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD9L

    (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 chordates.

    Orthologs for SAMD9L gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Samd9l1 , 5 sterile alpha motif domain containing 9-like1, 5 79.69(n)1
    72.74(a)1
      6 (1.76 cM)5
    2090861  NM_010156.31  NP_034286.21 
     33722575 
    chicken
    (Gallus gallus)
    Aves SAMD9L1 sterile alpha motif domain containing 9-like 62.36(n)
    53.05(a)
      420559  XM_418660.3  XP_418660.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    55(a)
    1 → many
    6(21513940-21518701)
    zebrafish
    (Danio rerio)
    Actinopterygii CU633740.16
    CU633740.26
    (see all 4)
    --
    35(a)
    35(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(6857665-6861936)
    3(6849667-6853080)


    ENSEMBL Gene Tree for SAMD9L (if available)
    TreeFam Gene Tree for SAMD9L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAMD9L gene
    SAMD92  
    1 SIMAP similar gene for SAMD9L using alignment to 1 protein entry:     SAM9L_HUMAN:
    SAMD9

    SAMD9L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/78 NCBI SNPs in SAMD9L are shown (see all 78    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs798011261,2
    F,--87367941(+) CTGTAT/CGGACT 1 -- ds50011Minor allele frequency- C:0.09WA 118
    rs737109611,2
    C,--87368118(+) TGGGTT/ATGGAG 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs803492701,2
    --87368294(+) CTGTTA/GTGCAT 1 -- ut310--------
    rs102364441,2
    C,F,A,H,--87368865(+) CACATA/GAGTTT 1 -- ut3123Minor allele frequency- G:0.16NA NS EA WA CSA 2485
    rs47290751,2
    H--87369850(+) CTCTCG/TGAGTT 2 R syn1 ese34Minor allele frequency- T:0.00NS EA 420
    rs802626241,2
    C,--87370930(+) GTCTGG/TTTCAT 2 T P mis10--------
    rs757548851,2
    C,--87373465(+) TGTTTC/TTGTGT 2 K E mis10--------
    rs2003486191,2
    C--87373473(+) TGTTTG/TTGAGA 2 K T mis10--------
    rs1116827621,2
    C,--87375093(+) GTAAAT/CTCTCA 1 -- int12Minor allele frequency- C:0.07CSA WA 120
    rs734046961,2
    C,--87375147(+) CAATTA/GATTGG 1 -- int12Minor allele frequency- G:0.10WA 120

    HapMap Linkage Disequilibrium report for SAMD9L (92759368 - 92777682 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SAMD9L: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SAMD9L
    DNA2.0 Custom Variant and Variant Library Synthesis for SAMD9L

    (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.)
    About This Section

    SAMD9L for disorders           About GeneDecksing

    OMIM gene information: 611170    OMIM disorders: --

    6 diseases for SAMD9L:    About MalaCards
    juvenile myelomonocytic leukemia    myelomonocytic leukemia    calcinosis    fibromatosis
    breast cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for SAMD9L:
    Calcinosis

    Export disorders for SAMD9L 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 SAMD9L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SAMD9L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human sterile alpha motif domain 9, a novel gene identified as down- regulated in aggressive fibromatosis, is absent in the mouse. (PubMed id 17407603)1, 2 Li C.F.... Alman B.A. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    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. 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)

    (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: 219285 HGNC: 1349 AceView: C7orf6 Ensembl:ENSG00000177409 euGenes: HUgn219285
    ECgene: SAMD9L H-InvDB: SAMD9L

    (According to HUGE)
    About This Section
    HUGE: KIAA2005

    (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 SAMD9L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
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