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SEC24B Gene

protein-coding   GIFtS: 64
GCID: GC04P110354

SEC24 Family Member B

(Previous names: SEC24 (S. cerevisiae) related gene family, member B, SEC24...)
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(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 B1 2     Protein Transport Protein Sec24B2
SEC24-Related Protein B2 3     SEC24 Family, Member B2
SEC24 (S. Cerevisiae) Related Gene Family, Member B1     SEC24 Related Gene Family, Member B2
SEC24 Family, Member B (S. Cerevisiae)1     Secretory Protein 242
SEC242     

External Ids:    HGNC: 107041   Entrez Gene: 104272   Ensembl: ENSG000001388027   OMIM: 6071845   UniProtKB: O954873   

Export aliases for SEC24B gene to outside databases

Previous GC identifers: GC04P110811 GC04P110664 GC04P110813 GC04P110712 GC04P110574 GC04P106087


(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 SEC24B 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. The role of this gene product is implicated in the
shaping of the vesicle, and also in cargo selection and concentration. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEC24B Gene:
SEC24B (SEC24 family member B) is a protein-coding gene. GO annotations related to this gene include transporter activity. An important paralog of this gene is SEC24A.

UniProtKB/Swiss-Prot: SC24B_HUMAN, O95487
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 SEC24B 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 at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC24B gene promoter:
         C/EBPbeta   ISGF-3   Arnt   GATA-2   CREB   HEN1   POU2F1   E2F-1   E2F   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC24B promoter sequence
   Search Chromatin IP Primers for SEC24B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC24B


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

SEC24B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC24B gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P110354:  view genomic region     (about GC identifiers)

Start:
110,354,928 bp from pter      End:
110,462,052 bp from pter
Size:
107,125 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SC24B_HUMAN, O95487 (See protein sequence)
Recommended Name: Protein transport protein Sec24B  
Size: 1268 amino acids; 137418 Da
Subunit: COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and SAR1. SEC24B
is capable of forming heterodimers with SEC24A. Interacts with RNF139. Interacts with TMED2 and TMED10
Sequence caution: Sequence=CAA10335.1; Type=Frameshift; Positions=459, 483;
1 PDB 3D structure from and Proteopedia for SEC24B:
3EH1 (3D)    
Secondary accessions: B7ZKN4 Q0VG08
Alternative splicing: 2 isoforms:  O95487-1   O95487-2   

Explore the universe of human proteins at neXtProt for SEC24B: NX_O95487

Explore proteomics data for SEC24B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys625
  • Glycosylation2 at Ser139, Ser149
  • Modification sites at PhosphoSitePlus

  • See SEC24B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001036199.1  NP_006314.2  

    ENSEMBL proteins: 
     ENSP00000428564   ENSP00000382051   ENSP00000265175  
    Reactome Protein details: O95487

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    SEC24B Assay Products:

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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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    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 O95487

    ProtoNet protein and cluster: O95487

    5 Blocks protein domains:
    IPB000425 MIP family
    IPB006895 Sec23/Sec24 zinc finger
    IPB006896 Sec23/Sec24 trunk domain
    IPB006900 Sec23/Sec24 helical domain
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: SC24B_HUMAN, O95487
    Similarity: Belongs to the SEC23/SEC24 family. SEC24 subfamily


    Find genes that share domains with SEC24B           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC24B_HUMAN, O95487
    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 SEC24B:
    SEC24 (S. cerevisiae) related gene family, member B

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10075675
    GO:0005515protein binding IPI19706601
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with SEC24B           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sec24b):
     cardiovascular system  embryogenesis  growth/size/body  hearing/vestibular/ear  mortality/aging 
     nervous system  respiratory system  vision/eye 

    Find genes that share phenotypes with SEC24B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC24B
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    miRTarBase miRNAs that target SEC24B:
    hsa-mir-18a-5p (MIRT050723), hsa-mir-30a-5p (MIRT028448), hsa-mir-155-5p (MIRT020621), hsa-mir-98-5p (MIRT027426), hsa-mir-186-5p (MIRT044925), hsa-mir-296-3p (MIRT038485), hsa-mir-16-5p (MIRT051230)

    Block miRNA regulation of human, mouse, rat SEC24B using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate SEC24B:
    hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidSEC24B 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SEC24B (NM_006323)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC24B


    (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
    SC24B_HUMAN, O95487: Cytoplasm. Cytoplasm, perinuclear region. Endoplasmic reticulum membrane (Potential). Golgi
    apparatus membrane (Potential). Golgi apparatus membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    golgi apparatus3
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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:0016020membrane TAS10075675

    Find genes that share ontologies with SEC24B           About GenesLikeMe


    (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 SEC24B 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


    Find genes that share SuperPaths with SEC24B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEC24B
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for SEC24B
        Cytoskeletal Signaling

    4 GeneGo (Thomson Reuters) Pathways for SEC24B
        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 SEC24B
        SREBP signalling

    4 Reactome Pathways for SEC24B
        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 SEC24B):
        Protein processing in endoplasmic reticulum

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC24B
    Interactions:

        Search GeneGlobe Interaction Network for SEC24B

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

    Selected Interacting proteins for SEC24B (O954873 ENSP000002651754) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYCO1Q9BQS83, ENSP000002961374I2D: score=3 STRING: ENSP00000296137
    TMED2Q153633, ENSP000002622254I2D: score=3 STRING: ENSP00000262225
    SEC13P557353, ENSP000003121224I2D: score=2 STRING: ENSP00000312122
    ARFGEF1Q9Y6D63, ENSP000002622154I2D: score=1 STRING: ENSP00000262215
    ARL1P406163, ENSP000002616364I2D: score=1 STRING: ENSP00000261636
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    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:0016192vesicle-mediated transport TAS10075675
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    Find genes that share ontologies with SEC24B           About GenesLikeMe



    (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 SEC24B (SC24B)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SEC24B gene (2 alternative transcripts): 
    NM_001042734.1  NM_006323.2  

    Unigene Cluster for SEC24B:

    SEC24 family, member B (S. cerevisiae)
    Hs.292472  [show with all ESTs]
    Unigene Representative Sequence: AJ131245
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504968 ENST00000399100 ENST00000265175(uc003hzk.3 uc003hzl.3 uc011cfp.2 uc011cfq.2 uc011cfr.2)

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    hsa-miR-520d-5p hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidSEC24B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SEC24B
      QuantiFast Probe-based Assays in human, mouse, rat SEC24B

    Additional mRNA sequence: 

    AJ131245.1 AK300278.1 AK304234.1 BC040137.1 BC117135.1 BC143268.1 BC143269.1 BC143276.1 

    9 DOTS entries:

    DT.217246  DT.91745497  DT.91699533  DT.40250563  DT.95306813  DT.95076348  DT.95304362  DT.40192305 
    DT.95351792 

    Selected AceView cDNA sequences (see all 216):

    BQ006743 AI674128 BU607540 CD107859 AW204730 N44578 AA288026 BM719316 
    AI225122 Z43853 BM021455 CD679389 AA234430 Z39864 BU178687 BQ632554 
    BM837102 NM_006323 BU622432 BM992437 AA256423 CA449375 BG575679 AA256535 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEC24B (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SEC24B

    (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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    SEC24B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTATAGAA
    SEC24B Expression
    About this image

    SEC24B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC24B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292472

    UniProtKB/Swiss-Prot: SC24B_HUMAN, O95487
    Tissue specificity: Expressed in fibroblasts, hepatocytes, and lymphocytes

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    (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 eukaryotes.

    Orthologs for SEC24B gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec24b1 , 5 Sec24 related gene family, member B (S. cerevisiae)1, 5 83.37(n)1
    84.26(a)1
      3 (59.87 cM)5
    996831  NM_207209.21  NP_997092.11 
     1299827595 
    chicken
    (Gallus gallus)
    Aves SEC24B1 SEC24 family, member B (S. cerevisiae) 76.27(n)
    78.5(a)
      422523  NM_001031135.1  NP_001026306.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC24B6
    SEC24 family member B
    74(a)
    1 ↔ 1
    5(144552762-144591995)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA987060.12   -- 77.68(n)    CA987060.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CF996861.12   -- 74.31(n)    CF996861.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec246
    sec24
    42(a)
    1 → many
    2R(5763737-5769858)
    worm
    (Caenorhabditis elegans)
    Secernentea sec-24.21 , 3 Yeast YIK9 like3
    sec-24.21
    42(a)3
    51.94(n)1
    44.83(a)1
      IV(12356456-12360940)3
    1781831  NM_069953.71  NP_502354.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC241 SEC24 45.75(n)
    36.73(a)
      854697   NP_012157.3 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.7452 Transcribed sequence with moderate similarity to protein more 72.86(n)    AJ469719.1 


    ENSEMBL Gene Tree for SEC24B (if available)
    TreeFam Gene Tree for SEC24B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC24B gene
    SEC24A2  SEC24C2  SEC24D2  
    3 SIMAP similar genes for SEC24B using alignment to 2 protein entries:     SC24B_HUMAN (see all proteins):
    SEC24A    SEC24D    SEC24C

    Find genes that share paralogs with SEC24B           About GenesLikeMe



    (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 SEC24B (see all 2043)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890065501,2
    --110148125(+) AGGGCA/TTCTCT 2 -- us2k10--------
    rs1448031921,2
    --110148144(+) GGTCTC/TATGAC 2 -- us2k10--------
    rs782663171,2
    C,F--110148146(+) TCTTAT/CGACCT 2 -- us2k13Minor allele frequency- C:0.07WA NA EA 358
    rs769576061,2
    C,F--110148228(+) CCAAGG/TTGTTA 2 -- us2k12Minor allele frequency- T:0.01WA NA 238
    rs800218591,2
    C,F--110148347(+) ATCTAT/CTAAAA 2 -- us2k13Minor allele frequency- C:0.07WA NA EA 358
    rs728966251,2
    C,F--110148355(+) AAACAC/TAGGGC 2 -- us2k15Minor allele frequency- T:0.10WA CSA NA EA 362
    rs1824443601,2
    --110148388(+) CTCCCC/GTTAAG 2 -- us2k10--------
    rs1479698731,2
    C--110148548(+) GGAGAC/TGCTGG 2 -- us2k10--------
    rs1418489861,2
    --110148558(+) GAATCC/TGTAAT 2 -- us2k10--------
    rs1471038711,2
    --110148563(+) TGTAAC/TTGTGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEC24B (110354928 - 110462052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SEC24B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677495CNV Deletion23128226
    esv2667224CNV Deletion23128226
    nsv4461CNV Insertion18451855
    nsv4462CNV Insertion18451855
    nsv292772CNV Insertion16902084
    esv270668CNV Insertion20981092
    esv24031CNV Loss19812545
    nsv525385CNV Loss19592680
    nsv461613CNV Gain19166990

    Human Gene Mutation Database (HGMD): SEC24B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC24B
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC24B

    (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: 607184    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for SEC24B:
    Congenital dyserythropoietic anemia

    Find genes that share disorders with SEC24B           About GenesLikeMe

    Genetic Association Database (GAD): SEC24B
    Human Genome Epidemiology (HuGE) Navigator: SEC24B (1 document)

    Export disorders for SEC24B 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 SEC24B gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SEC24B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sec24 proteins and sorting at the endoplasmic reticulum. (PubMed id 10075675)1, 2, 3, 9 Pagano A.... Paccaud J.-P. (J. Biol. Chem. 1999)
    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. The sterol-sensing endoplasmic reticulum (ER) membrane protein TRC8 hampers ER to Golgi transport of sterol regulatory element-binding protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cleavage. (PubMed id 19706601)1, 2 Irisawa M.... Sato R. (J. Biol. Chem. 2009)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L.... Hong W. (Biochem. Biophys. Res. Commun. 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. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects. (PubMed id 23592378)1 Yang X.Y....Wang H.Y. (Hum. Mutat. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis. (PubMed id 22323290)1 Mulkearns E.E. and Cooper J.A. (Mol. Biol. Cell 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: 10427 HGNC: 10704 AceView: SEC24B Ensembl:ENSG00000138802 euGenes: HUgn10427
    ECgene: SEC24B Kegg: 10427 H-InvDB: SEC24B

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SEC24B 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 SEC24B gene:
    Search GeneIP for patents involving SEC24B

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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