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

SEC24B Gene

protein-coding   GIFtS: 60
GCID: GC04P110354

SEC24 Family, Member B (S. Cerevisiae)

(Previous names: SEC24 (S. cerevisiae) related gene family, member B, 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)
About This Section

Aliases
SEC24 Family, Member B (S. Cerevisiae)1 2     SEC242
SEC24-Related Protein B2 3     Protein Transport Protein Sec24B2
SEC24 (S. Cerevisiae) Related Gene Family, Member B1     SEC24 Related Gene Family, Member B2
SEC24 Related Gene Family, Member B (S. Cerevisiae)1     Secretory Protein 242

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

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 (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC24B include congenital dyserythropoietic anemia, and situs inversus, and among its related super-pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Clathrin-dependent protein traffic. GO annotations related to this gene include transporter activity and zinc ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SEC24B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Endoplasmic reticulum membrane (Potential). Golgi
apparatus membrane (Potential). Golgi apparatus membrane (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95487

  • SEC24B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEC24B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001036199.1  NP_006314.2  

    ENSEMBL proteins: 
     ENSP00000428564   ENSP00000382051   ENSP00000265175  
    Reactome Protein details: O95487
    Human Recombinant Protein Products for SEC24B: 
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    Cloud-Clone Corp. Proteins for SEC24B 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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

    SEC24B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 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


    SEC24B 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10075675
    GO:0005515protein binding IPI19706601
    GO:0008270zinc ion binding IEA--
         
    SEC24B for ontologies           About GeneDecksing


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

    SEC24B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEC24B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEC24B 
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    SwitchGear 3'UTR luciferase reporter plasmidSEC24B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEC24B About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1COPII (Coat Protein 2) Mediated Vesicle Transport
    COPII (Coat Protein 2) Mediated Vesicle Transport0.36
    ER to Golgi Transport0.36
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC0.31
    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)0.67
    SREBP signalling0.37
    4Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SEC24B
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/18        Reactome Pathways for SEC24B (see all 18)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Membrane Trafficking
    Metabolism
    COPII (Coat Protein 2) Mediated Vesicle Transport
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    1         Kegg Pathway  (Kegg details for SEC24B):
        Protein processing in endoplasmic reticulum


    SEC24B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEC24B

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

    5/104 Interacting proteins for SEC24B (O954873 ENSP000002651754) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYCO1Q9BQS83, ENSP000002961374I2D: score=3 STRING: ENSP00000296137
    TMED2Q153633, ENSP000002622254I2D: score=3 STRING: ENSP00000262225
    SEC13P557353, ENSP000003121224I2D: score=2 STRING: ENSP00000312122
    MLST8Q9BVC43, ENSP000003718884I2D: score=1 STRING: ENSP00000371888
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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:0016192vesicle-mediated transport TAS10075675
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    SEC24B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SEC24B (SC24B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/216 AceView cDNA sequences (see all 216):

    BC040137 AW204730 BM719316 AA318705 AW593881 BU607540 BG575679 BQ009043 
    BQ006743 CF528804 CD107859 BM354227 R37704 AI400478 AA552024 Z43797 
    AA256423 N44578 AA288026 AA593122 BM022005 BQ632554 BM683248 W96080 

    GeneLoc Exon Structure

    5/13 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™, 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

    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


    See SEC24B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC24B

    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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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC24B

    (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 eukaryotes.

    Orthologs for SEC24B gene from 9/23 species (see all 23)    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 83.94(n)1
    84.91(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) 76.44(n)
    78.79(a)
      422523  NM_001031135.1  NP_001026306.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC24B6
    Uncharacterized protein
    73(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 sec241 CG1472-PA 48.68(n)
    44.87(a)
      36025  NM_136687.4  NP_610531.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sec-24.23 Yeast YIK9 like 42(a)   IV(12356456-12360940)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC241 Sec24p 44.96(n)
    35.66(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)
    About This Section
    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

    SEC24B 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) 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

    10/2043 SNPs in SEC24B are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607184    OMIM disorders: --

    5 diseases for SEC24B:    About MalaCards
    congenital dyserythropoietic anemia    situs inversus    alcohol dependence    anemia
    alcoholism

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

    SEC24B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SEC24B gene, integrated from 9 sources (see all 33):
    (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. (1999)
    2. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    3. The sterol-sensing endoplasmic reticulum (ER) membran e protein TRC8 hampers ER to Golgi transport of sterol regulatory element-bindi ng protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cle avage. (PubMed id 19706601)1, 2 Irisawa M....Sato R. (2009)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L....Hong W. (1999)
    6. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PubMed id 20427317)2, 9 Bonnon C....Hauri H.P. (2010)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. 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. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10427 HGNC: 10704 AceView: SEC24B Ensembl:ENSG00000138802 euGenes: HUgn10427
    ECgene: SEC24B Kegg: 10427 H-InvDB: SEC24B

    (According to HUGE)
    About This Section
      --

    (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 SEC24B Pharmacogenomics, SNPs, Pathways

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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