Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SAMD8 Gene

protein-coding   GIFtS: 52
GCID: GC10P076859

sterile alpha motif domain containing 8
 Explore 1 disease affiliated with
SAMD8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SAMD8    

Aliases
for SAMD8 gene

(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 81 2     FLJ250821
Ceramide Phosphoethanolamine Synthase2 3     Sphingomyelin Synthase Related2
Sterile Alpha Motif Domain-Containing Protein 82 3     Sphingomyelin Synthase-Related Protein 12
SMSr2 3     EC 2.7.8.-3
CPE Synthase2 3     SMSR5
SAM Domain-Containing Protein 82 3     

External Ids:    HGNC: 263201   Entrez Gene: 1428912   Ensembl: ENSG000001566717   OMIM: 6115755   UniProtKB: Q96LT43   

Export aliases for SAMD8 gene to outside databases

Previous GC identifers: GC10P076216 GC10P076541 GC10P070869


Summaries
for SAMD8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: SAMD8_HUMAN, Q96LT4
Function: Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the
primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase
activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with
low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic
reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway




Genomic Views
for SAMD8 gene

(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAMD8 gene promoter:
         NF-1   NF-1/L   AML1a   FOXF2   NRSF form 1   NRSF form 2   AREB6   PPAR-gamma1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SAMD8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SAMD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD8


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.3

SAMD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMD8 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P076859:  view genomic region     (about GC identifiers)

Start:
 76,859,344 bp from pter      End:
 76,941,881 bp from pter
Size:
 82,538 bases      Orientation:
 plus strand

Proteins
for SAMD8 gene

(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: SAMD8_HUMAN, Q96LT4 (See protein sequence)
Recommended Name: Sphingomyelin synthase-related protein 1  
Size: 415 amino acids; 48321 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH80593.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q5JSC5 Q5JSC8 Q66K52
Alternative splicing: 2 isoforms:  Q96LT4-1   Q96LT4-2   

Explore the universe of human proteins at neXtProt for SAMD8: NX_Q96LT4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96LT4

    • SAMD8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001167627.1  NP_653261.1  

    ENSEMBL proteins: 
     ENSP00000391799   ENSP00000361775   ENSP00000361772   ENSP00000438042  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: SAMD8
    OriGene Custom Protein Services for SAMD8 
    GenScript Custom Purified and Recombinant Proteins Services for SAMD8
    Novus Biologicals SAMD8 Protein
    Novus Biologicals SAMD8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane NAS14685263
    GO:0030176integral to endoplasmic reticulum membrane IDA19506037


    SAMD8 for ontologies           About GeneDecksing



    SAMD8 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SAMD8 
    GenScript Custom Superior Antibodies Services for SAMD8
    Novus Biologicals SAMD8 Antibodies
    Search for Antibodies for SAMD8 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for SAMD8

    Assay Products for SAMD8: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SAMD8
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SAMD8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SAMD8 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR025749 Sphingomyelin_synth-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96LT4

    ProtoNet protein and cluster: Q96LT4

    1 Blocks protein family: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SAMD8_HUMAN, Q96LT4
    Domain: The SAM domain is required to retain SMAD8 in the endoplasmic reticulum
    Similarity: Belongs to the sphingomyelin synthase family
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Function
    for SAMD8 gene

    (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
    Function Summary:

         UniProtKB/Swiss-Prot: SAMD8_HUMAN, Q96LT4
    Function: Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the
    primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase
    activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with
    low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic
    reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway

    Enzyme Number (IUBMB): EC 2.7.8.-1

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SAMD8
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAMD8
    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate SAMD8 (see all 87):
    hsa-miR-411* hsa-miR-607 hsa-miR-106a hsa-miR-218-1* hsa-miR-200a hsa-miR-30d hsa-miR-519a hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: SAMD8 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 SAMD8 (see all 7)
    OriGene shRNA RFP: SAMD8
    OriGene siRNA: SAMD8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMD8

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SAMD8

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SAMD8 (NM_144660)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAMD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD8 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SAMD8
    Search LifeMap BioReagents cell lines for SAMD8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016740transferase activity IEA--


    SAMD8 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SAMD8:
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for SAMD8 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1sphingomyelin metabolism
    		sphingomyelin metabolism1.00


    1 BioSystems Pathway for SAMD8 
        sphingomyelin metabolism


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAMD8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for SAMD8 (Q96LT43 ENSP000003617724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR1P368973, ENSP000003641334I2D: score=3 STRING: ENSP00000364133
    COPS4Q9BT783I2D: score=5 
    CLN3Q132863I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006686sphingomyelin biosynthetic process NAS14685263
    GO:0046513ceramide biosynthetic process IDA19506037
    GO:2000303regulation of ceramide biosynthetic process IDA19506037


    SAMD8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SAMD8 gene

    (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 SAMD8

    10/40 HMDB Compounds for SAMD8 (see all 40)    About this table
    CompoundSynonyms CAS #PubMed Ids
    LysoSM(d18:0)sphinganine-1-phosphocholine (see all 2)----
    LysoSM(d18:1)C18-Sphingosine phosphocholine (see all 7)1670-26-4--
    SM(d16:1/24:1(15Z))Sphingomyelin (d16:1/24:1(15Z)) (see all 2)----
    SM(d17:1/24:0)Sphingomyelin (d17:1/24:0) (see all 2)----
    SM(d17:1/24:1(15Z))Sphingomyelin (d17:1/24:1(15Z)) (see all 2)----
    SM(d18:0/12:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:1(9Z)(OH))C14:1-OH Sphingomyelin (see all 2)----
    SM(d18:0/16:0)Sphingomyelin (see all 4)----
    SM(d18:0/16:1(9Z)(OH))C16:1-OH Sphingomyelin (see all 2)----
    Search CenterWatch for drugs/clinical trials and news about SAMD8 

    Transcripts
    for SAMD8 gene

    (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 SAMD8 gene (2 alternative transcripts): 
    NM_001174156.1  NM_144660.2  

    Unigene Cluster for SAMD8:

    Sterile alpha motif domain containing 8
    Hs.302669  [show with all ESTs]
    Unigene Representative Sequence: NM_144660
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447533 ENST00000372690 ENST00000372687 ENST00000542569(uc001jwx.2 uc001jwy.2)


    miRNA
    Products:             		 OriGene 3'-UTR Clone: SAMD8
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAMD8
    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate SAMD8 (see all 87):
    hsa-miR-411* hsa-miR-607 hsa-miR-106a hsa-miR-218-1* hsa-miR-200a hsa-miR-30d hsa-miR-519a hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: SAMD8 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 SAMD8 (see all 7)
    OriGene shRNA RFP: SAMD8
    OriGene siRNA: SAMD8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMD8
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SAMD8 (NM_144660)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAMD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD8 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAMD8
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAMD8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAMD8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMD8

    Additional cDNA sequence: 

    AK057811.1 BC080593.1 

    5 DOTS entries:

    DT.113707  DT.91657390  DT.75159217  DT.91718840  DT.95250857 

    21 AceView cDNA sequences:

    BX280496 AW991245 AI341118 BQ227867 AK057811 NM_144660 BG571120 BE890410 
    BG332990 BX510136 BP355712 BC080593 BX496935 BE551749 AL600808 BI461349 
    BG778855 BX384859 AW991585 BX462930 BU181071 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD8    About this scheme

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


    ECgene alternative splicing isoforms for SAMD8

    Expression
    for SAMD8 gene

    (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

    SAMD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTCTTTTT

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

    SAMD8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SAMD8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAMD8

    SOURCE GeneReport for Unigene cluster: Hs.302669
        SABiosciences Custom PCR Arrays for SAMD8
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAMD8
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SAMD8
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAMD8
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMD8
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD8

    Orthologs
    for SAMD8 gene

    (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 SAMD8 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Samd81 , 5 sterile alpha motif domain containing 81, 5 91.97(n)1
    95.66(a)1    		   14 (11.86 cM)5
    676301  NM_026283.21  NP_080559.11 
     217505315 
    chicken
    (Gallus gallus)    		 Aves SAMD81 sterile alpha motif domain containing 8 80.64(n)
    90.12(a)    		   428946  XM_426501.3  XP_426501.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SAMD86
    		 --
    		 86(a)
    		 1 ↔ 1
    		 GL343196.1(2640062-2655469)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1751391 zgc:175139 69.24(n)
    80.8(a)    		   100141337  NM_001114902.1  NP_001108374.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta SMSr1 CG32380-PA 55.18(n)
    54.66(a)    		   38823  NM_139857.2  NP_648114.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea F53B1.21 Protein F53B1.2 53.04(n)
    49.74(a)    		   180524  NM_075988.4  NP_508389.1 


    ENSEMBL Gene Tree for SAMD8 (if available)
    TreeFam Gene Tree for SAMD8 (if available) 

    Paralogs
    for SAMD8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAMD8 gene
    SGMS22  SGMS12  
    3 SIMAP similar genes for SAMD8 using alignment to 2 protein entries:     SAMD8_HUMAN (see all proteins):
    SGMS2    SGMS1    TMEM23

    SAMD8 for paralogs           About GeneDecksing



    Genomic Variants
    for SAMD8 gene

    (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

    10/1131 NCBI SNPs in SAMD8 are shown (see all 1131)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1178276401,2
    		F,--76871088(+) TCCTGT/CCGCTT 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1932063151,2
    		--76871123(+) CCTCGC/GGCTCC 2 -- us2k10--------
    rs1843821211,2
    		--76871318(+) GCGCGC/TAGTCG 2 -- us2k10--------
    rs1509942261,2
    		--76871563(+) GAGCCA/GGGGGC 2 -- int10--------
    rs1150753061,2
    		F,--76871777(+) TGCGCA/GGTGGG 2 -- int11Minor allele frequency- G:0.02WA 118
    rs1409637561,2
    		--76871866(+) CAGAGA/GAGCAA 2 -- int10--------
    rs1893119491,2
    		--76872071(+) AAGGGC/GTGAGG 2 -- int10--------
    rs1918463511,2
    		--76872079(+) AGGGAA/GGCACT 2 -- int10--------
    rs1159287731,2
    		--76872176(+) CATCAA/GAGATC 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1448851961,2
    		--76872191(+) GGGCAA/GTGTAC 2 -- int10--------

    HapMap Linkage Disequilibrium report for SAMD8 (76859344 - 76941881 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SAMD8
         1 CNV: 48633

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SAMD8
    DNA2.0 Custom Variant and Variant Library Synthesis for SAMD8

    Disorders / Diseases
    for SAMD8 gene

    (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
    SAMD8 for disorders           About GeneDecksing

    OMIM gene information: 611575    OMIM disorders: --

    1 disease for SAMD8:    About MalaCards
    alzheimer's disease

    Human Genome Epidemiology (HuGE) Navigator: SAMD8 (1 document)

    Export disorders for SAMD8 gene to outside databases

    Publications
    for SAMD8 gene

    (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 SAMD8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SAMD8)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER. (PubMed id 19506037)1, 2 Vacaru A.M....Holthuis J.C. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Identification of a family of animal sphingomyelin synthases. (PubMed id 14685263)1, 2 Huitema K.... Holthuis J.C. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    6. High-throughput mapping of a dynamic signaling network in mammalian cells. (PubMed id 15761153)1 Barrios-Rodiles M....Wrana J.L. (2005)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    9. 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)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    External Searches for SAMD8 gene

    (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)

    Genome Databases showing SAMD8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 142891 HGNC: 26320 AceView: SAMD8 Ensembl:ENSG00000156671 euGenes: HUgn142891
    ECgene: SAMD8 H-InvDB: SAMD8

    Other Databases showing SAMD8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SAMD8 gene

    (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 SAMD8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SAMD8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SAMD8 gene:
    Search GeneIP for patents involving SAMD8

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



    Products
    for SAMD8 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SAMD8  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAMD8   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SAMD8  
     OriGene Protein Over-expression Lysate for SAMD8   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SAMD8   OriGene 3'-UTR Clone for SAMD8  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAMD8  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SAMD8   OriGene Custom Protein Services for SAMD8  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SAMD8
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SAMD8
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAMD8
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMD8
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMD8
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAMD8
     GenScript Custom Purified and Recombinant Proteins Services for SAMD8 GenScript cDNA clones with any tag delivered in your preferred vector for SAMD8
     GenScript Custom Assay Services for SAMD8 GenScript Custom Superior Antibodies Services for SAMD8
     GenScript Custom overexpressing Cell Line Services for SAMD8 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SAMD8 promoter
     Search Chromatin IP Primers for SAMD8
     RT2 qPCR Primer Assay in human, mouse, rat SAMD8
     Search GNC Networks for SAMD8
     SABiosciences Custom PCR Arrays for SAMD8
     Search Tocris compounds for SAMD8
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SAMD8 antibodies
     SAMD8 proteins
     SAMD8 lysates
     Search for Antibodies for SAMD8 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SAMD8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for SAMD8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMD8
     SwitchGear 3'UTR luciferase reporter plasmids for SAMD8
     SwitchGear Promoter luciferase reporter plasmids for SAMD8
     ThermoFisher Antibodies for SAMD8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMD8
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SAMD8 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4