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SEC24D Gene

protein-coding   GIFtS: 68
GCID: GC04M119643

SEC24 Family Member D

(Previous names: SEC24 (S. cerevisiae) related gene family, member D, SEC24...)
  See related diseases
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
SEC24 Family Member D1 2     Protein Transport Protein Sec24D2
SEC24-Related Protein D2 3     SEC24 Family, Member D2
SEC24 (S. Cerevisiae) Related Gene Family, Member D1     SEC24 Related Gene Family, Member D2
SEC24 Family, Member D (S. Cerevisiae)1     KIAA07553

External Ids:    HGNC: 107061   Entrez Gene: 98712   Ensembl: ENSG000001509617   OMIM: 6071865   UniProtKB: O948553   

Export aliases for SEC24D gene to outside databases

Previous GC identifers: GC04M120402 GC04M119924 GC04M120037 GC04M120102 GC04M120001 GC04M115365


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEC24D Gene:
The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved
in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat
protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of
the vesicle, and also in cargo selection and concentration. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEC24D Gene:
SEC24D (SEC24 family member D) is a protein-coding gene. Diseases associated with SEC24D include liddle syndrome, and alcohol dependence. An important paralog of this gene is SEC24A.

UniProtKB/Swiss-Prot: SC24D_HUMAN, O94855
Function: Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic
reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma
membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex

Gene Wiki entry for SEC24D 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC24D gene promoter:
         AREB6   c-Rel   PPAR-gamma1   RFX1   Pax-3   AP-1   Bach2   PPAR-gamma2   Nkx5-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC24D promoter sequence
   Search Chromatin IP Primers for SEC24D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC24D


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

Entrez Gene cytogenetic band: 4q26   Ensembl cytogenetic band:  4q26   HGNC cytogenetic band: 4q26

SEC24D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC24D gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M119643:  view genomic region     (about GC identifiers)

Start:
119,643,978 bp from pter      End:
119,759,838 bp from pter
Size:
115,861 bases      Orientation:
minus 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: SC24D_HUMAN, O94855 (See protein sequence)
Recommended Name: Protein transport protein Sec24D  
Size: 1032 amino acids; 113010 Da
Subunit: COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1.
Interacts with TMED2 and TMED10
Sequence caution: Sequence=BAA34475.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SEC24D:
3EFO (3D)        3EG9 (3D)    
Secondary accessions: Q8IYI7
Alternative splicing: 2 isoforms:  O94855-1   O94855-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC24D: NX_O94855

Explore proteomics data for SEC24D at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys795
  • Modification sites at PhosphoSitePlus

  • See SEC24D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055637.2  
    ENSEMBL proteins: 
     ENSP00000280551   ENSP00000425491   ENSP00000422717   ENSP00000424085   ENSP00000427249  
     ENSP00000426309   ENSP00000369059   ENSP00000409775   ENSP00000388324  
    Reactome Protein details: O94855

    SEC24D Human Recombinant Protein Products:

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    Novus Biologicals SEC24D Protein
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    SEC24D Assay Products:

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    Cloud-Clone Corp. CLIAs for SEC24D


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR006900 Sec23/24_helical_dom
     IPR012990 Sec23_24_beta_S
     IPR006896 Sec23/24_trunk_dom
     IPR006895 Znf_Sec23_Sec24
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry O94855

    ProtoNet protein and cluster: O94855

    3 Blocks protein domains:
    IPB006895 Sec23/Sec24 zinc finger
    IPB006896 Sec23/Sec24 trunk domain
    IPB006900 Sec23/Sec24 helical domain


    UniProtKB/Swiss-Prot: SC24D_HUMAN, O94855
    Similarity: Belongs to the SEC23/SEC24 family. SEC24 subfamily


    SEC24D 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC24D_HUMAN, O94855
    Function: Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic
    reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma
    membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex

         Genatlas biochemistry entry for SEC24D:
    SEC24 (S. cerevisiae) related gene family, member D

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008270zinc ion binding IEA--
         
    SEC24D for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEC24D:
     Increased G1 DNA content  Increased number of cells in m 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Sec24d):
     mortality/aging 

    SEC24D for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC24D
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEC24D

    miRNA
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    miRTarBase miRNAs that target SEC24D:
    hsa-mir-124-3p (MIRT022130), hsa-mir-335-5p (MIRT016795), hsa-mir-605-5p (MIRT001230), hsa-mir-192-5p (MIRT026143), hsa-mir-215-5p (MIRT024462)

    Block miRNA regulation of human, mouse, rat SEC24D using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SEC24D:
    hsa-miR-3607-3p hsa-miR-204 hsa-miR-1284 hsa-miR-211 hsa-miR-3144-3p
    SwitchGear 3'UTR luciferase reporter plasmidSEC24D 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEC24D

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SEC24D (NM_014822)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC24D

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC24D


    (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 UniProtKB/Swiss-Prot
    SC24D_HUMAN, O94855: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Endoplasmic
    reticulum membrane (By similarity). Golgi apparatus membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    golgi apparatus2
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol TAS--
    GO:0012507ER to Golgi transport vesicle membrane TAS--
    GO:0030127COPII vesicle coat NAS10329445

    SEC24D for ontologies           About GeneDecksing


    (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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    SuperPaths for SEC24D About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1ER to Golgi Transport
    ER to Golgi Transport0.36
    Antigen Presentation- Folding, assembly and peptide loading of class I MHC0.32
    Delta508 CFTR traffic ER to Golgi in CF0.36
    COPII (Coat Protein 2) Mediated Vesicle Transport0.00
    Normal wtCFTR traffic ER to Golgi 0.36
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Transport to the Golgi and subsequent modification0.40
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEC24D
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for SEC24D
        Cytoskeletal Signaling

    4 GeneGo (Thomson Reuters) Pathways for SEC24D
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / ER-to-Golgi in CF
    Normal wtCFTR traffic / ER-to-Golgi
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for SEC24D
        SREBP signalling

    4 Reactome Pathways for SEC24D
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    COPII (Coat Protein 2) Mediated Vesicle Transport
    Regulation of cholesterol biosynthesis by SREBP (SREBF)
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for SEC24D):
        Protein processing in endoplasmic reticulum


    SEC24D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC24D
    Interactions:

        GeneGlobe Interaction Network for SEC24D

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SEC24D (O948552, 3 ENSP000002805514) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMO4P619682, 3MINT-60898 I2D: score=3 
    SEC23AQ154362, 3, ENSP000003068814MINT-7299563 I2D: score=1 STRING: ENSP00000306881
    SEC23BQ154373, ENSP000002625444I2D: score=5 STRING: ENSP00000262544
    CDK16Q005363, ENSP000004057984I2D: score=1 STRING: ENSP00000405798
    DCTN1Q142033, ENSP000003547914I2D: score=1 STRING: ENSP00000354791
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006886intracellular protein transport IEA--
    GO:0006888ER to Golgi vesicle-mediated transport TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    SEC24D for ontologies           About GeneDecksing



    (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 SEC24D (SC24D)



    (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 SEC24D gene: 
    NM_014822.2  

    Unigene Cluster for SEC24D:

    SEC24 family, member D (S. cerevisiae)
    Hs.189641  [show with all ESTs]
    Unigene Representative Sequence: NM_014822
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280551 ENST00000505134(uc003ich.4) ENST00000511481 ENST00000502830
    ENST00000511715(uc003ick.2) ENST00000514561(uc003icl.2) ENST00000502526
    ENST00000511033 ENST00000509818(uc010imz.1) ENST00000514418 ENST00000506622(uc011cgg.1)
    ENST00000503683 ENST00000505280 ENST00000379735(uc003ici.4 uc003icj.4)
    ENST00000429811 ENST00000419654
    miRNA
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    hsa-miR-3607-3p hsa-miR-204 hsa-miR-1284 hsa-miR-211 hsa-miR-3144-3p
    SwitchGear 3'UTR luciferase reporter plasmidSEC24D 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SEC24D
      QuantiFast Probe-based Assays in human, mouse, rat SEC24D

    Additional mRNA sequence: 

    AB018298.1 AF130464.2 AK000883.1 AK001390.1 AK125962.1 AK291765.1 AK302479.1 AK309960.1 
    AK310259.1 BC035761.1 BC037736.1 

    19 DOTS entries:

    DT.417374  DT.75134464  DT.100662404  DT.91878300  DT.121234119  DT.91858537  DT.92440019  DT.121234093 
    DT.91716167  DT.92440021  DT.100788803  DT.121234057  DT.121234074  DT.121234092  DT.121234100  DT.75105122 
    DT.75131798  DT.95184497  DT.97821473 

    Selected AceView cDNA sequences (see all 256):

    Z38445 BG163382 BQ269854 BX486015 BC035761 AA814666 BX282071 AA532989 
    CA413073 BG532071 AI952893 Z42189 BM795655 AA291583 BI060730 BU631840 
    BQ433615 BX088911 AW473323 CK821540 CA416518 CA441796 BU683703 BU688777 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SEC24D    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                          -                                                           -     -     -                                                         
    SP2:                          -                                                           -     -     -                                                         
    SP3:        -     -                                                                       -                                                                     
    SP4:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:  -                           
    SP2:  -                           
    SP3:                              
    SP4:                              


    ECgene alternative splicing isoforms for SEC24D

    (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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    SEC24D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACTCCATT
    SEC24D Expression
    About this image


    SEC24D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Cerebral Cortex
    SEC24D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC24D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.189641

    UniProtKB/Swiss-Prot: SC24D_HUMAN, O94855
    Tissue specificity: Ubiquitously expressed, with higher amounts in placenta, pancreas, heart and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC24D

    (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 and fungi.

    Orthologs for SEC24D gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec24d1 , 5 Sec24 related gene family, member D (S. cerevisiae)1, 5 83.72(n)1
    88.35(a)1
      3 (53.82 cM)5
    696081  NM_027135.21  NP_081411.21 
     1232674965 
    chicken
    (Gallus gallus)
    Aves SEC24D1 SEC24 family, member D (S. cerevisiae) 74.63(n)
    78.1(a)
      422683  XM_004941242.1  XP_004941299.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC24D6
    SEC24 family member D
    73(a)
    1 ↔ 1
    5(140305566-140373809)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1377097502   -- 77.11(n)    137709750 
    zebrafish
    (Danio rerio)
    Actinopterygii sec24d1 SEC24 family, member D (S. cerevisiae) 66.24(n)
    66.73(a)
      553407  NM_001177932.1  NP_001171403.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG108823 serine-type endopeptidase 48(a)   22D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea sec-24.13 Yeast hypothetical YIK9 protein like 40(a)   IV(11562517-11563694)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SFB26
    SEC246
    Component of the Sec23p-Sfb2p heterodimer of the C...
    Component of the Sec23p-Sec24p heterodimer of the ...
    24(a)
    23(a)
    many ↔ many
    many ↔ many
    XIV(535281-537911) YNL049C
    IX(157385-160165) YIL109C


    ENSEMBL Gene Tree for SEC24D (if available)
    TreeFam Gene Tree for SEC24D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC24D gene
    SEC24A2  SEC24C2  SEC24B2  
    3 SIMAP similar genes for SEC24D using alignment to 9 protein entries:     SC24D_HUMAN (see all proteins):
    SEC24C    SEC24A    SEC24B

    SEC24D 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 SEC24D (see all 2283)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423729781,2
    --119643582(+) GACACA/GATATG 1 -- ds50010--------
    rs1509830801,2
    --119643672(+) TGACAG/TCACTC 1 -- ds50010--------
    rs1497798311,2
    C--119643739(+) TCTAT-/TTATTATT 1 -- cds10--------
    rs1829382941,2
    --119643807(+) GTTTCC/TTAGAT 1 -- ds50010--------
    rs764968241,2
    C,F--119643863(+) TGTTTT/CCCTGA 1 -- ds50011Minor allele frequency- C:0.11WA 118
    rs1395453171,2
    --119643968(+) AATAAA/GTCTAC 1 -- ds50010--------
    rs1497224071,2
    C--119643989(+) TATACA/GAAGTG 1 -- ut310--------
    rs1869285961,2
    --119644000(+) ATTTAC/TTGATA 1 -- ut310--------
    rs1467464491,2
    --119644046(+) CAAAAC/TTGTAC 1 -- ut310--------
    rs1918319891,2
    --119644055(+) ACAAAC/GAACCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SEC24D (119643978 - 119759838 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SEC24D:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519017CNV Loss19592680
    nsv516777CNV Gain19592680
    essv11621CNV CNV17122850
    dgv1668e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC24D
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC24D

    (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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    OMIM gene information: 607186    OMIM disorders: --

    4 diseases for SEC24D:    
    About MalaCards
    liddle syndrome    alcohol dependence    cerebritis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for SEC24D:
    Liddle syndrome

    SEC24D for disorders           About GeneDecksing

    Genetic Association Database (GAD): SEC24D
    Human Genome Epidemiology (HuGE) Navigator: SEC24D (2 documents)

    Export disorders for SEC24D 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 SEC24D gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SEC24D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    2. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 2 Tang B.L.... Hong W. (Biochem. Biophys. Res. Commun. 1999)
    5. Sec24 proteins and sorting at the endoplasmic reticulum. (PubMed id 10075675)1, 3 Pagano A.... Paccaud J.-P. (J. Biol. Chem. 1999)
    6. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PubMed id 20427317)2, 9 Bonnon C.... Hauri H.P. (J. Cell Sci. 2010)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. A triple arg motif mediates I+(2B)-adrenergic receptor interaction with Sec24C/D and export. (PubMed id 22404651)1 Dong C....Wu G. (Traffic 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (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: 9871 HGNC: 10706 AceView: SEC24D Ensembl:ENSG00000150961 euGenes: HUgn9871
    ECgene: SEC24D Kegg: 9871 H-InvDB: SEC24D

    (According to HUGE)
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    HUGE: KIAA0755

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SEC24D 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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    Patent Information for SEC24D gene:
    Search GeneIP for patents involving SEC24D

    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
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