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

SEC23B Gene

protein-coding   GIFtS: 60
GCID: GC20P018488

Sec23 homolog B (S. cerevisiae)

(Previous names: Sec23 (S. cerevisiae) homolog B, congenital dyserythropoietic...)
(Previous symbol: CDAN2)
 Explore 10 diseases affiliated with
SEC23B via our new
 Human Malady Compendium 
Biological research products
for SEC23B
    

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

Aliases
Sec23 Homolog B (S. Cerevisiae)1 2     Congenital Dyserythropoietic Anemia, Type II1
CDAN21 2 5     Sec23 (S. Cerevisiae) Homolog B1
HEMPAS1 2 5     Protein Transport Protein Sec23B2
CDA-II1 2     SEC23-Like Protein B2
CDAII1 2     Transport Protein SEC23B2
SEC23-Related Protein B2 3     

External Ids:    HGNC: 107021   Entrez Gene: 104832   Ensembl: ENSG000001013107   OMIM: 6105125   UniProtKB: Q154373   

Export aliases for SEC23B gene to outside databases

Previous GC identifers: GC20P018476 GC20P018483 GC20P018437 GC20P018439 GC20P018441 GC20P018444 GC20P018447 GC20P018452


(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 SEC23B:
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in
vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein
complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo
selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene.
(provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: SC23B_HUMAN, Q15437
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 (By similarity)

Gene Wiki entry for SEC23B


(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_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEC23B gene promoter:
         STAT5B   Nkx2-5   RORalpha2   GATA-2   AREB6   CBF-B   CBF-A   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC23B promoter sequence
   Search SABiosciences Chromatin IP Primers for SEC23B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEC23B


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

Entrez Gene cytogenetic band: 20p11.23   Ensembl cytogenetic band:  20p11.23   HGNC cytogenetic band: 20p11.23

SEC23B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC23B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P018488:  view genomic region     (about GC identifiers)

Start:
18,488,137 bp from pter      End:
18,542,059 bp from pter
Size:
53,923 bases      Orientation:
plus strand

(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: SC23B_HUMAN, Q15437 (See protein sequence)
Recommended Name: Protein transport protein Sec23B  
Size: 767 amino acids; 86479 Da
Subunit: COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (By
similarity)
Subcellular location: Golgi apparatus membrane (By similarity). Endoplasmic reticulum membrane (By similarity).
Endoplasmic reticulum-Golgi intermediate compartment membrane (By similarity)
Secondary accessions: D3DW33 Q503A9 Q5W183 Q9BS15 Q9BSI2 Q9H1D7

Explore the universe of human proteins at neXtProt for SEC23B: NX_Q15437

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15437

  • SEC23B Protein expression data from MOPED and PaxDb:    About this image 
    SEC23B Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001166216.1  NP_001166217.1  NP_006354.2  NP_116780.1  NP_116781.1  

    ENSEMBL proteins: 
     ENSP00000403971   ENSP00000262544   ENSP00000338844   ENSP00000366695   ENSP00000366685  
     ENSP00000409882  

    Human Recombinant Protein Products for SEC23B: 
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    Novus Biologicals SEC23B Protein
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    Uscn Proteins for SEC23B

    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 IEA--
    GO:0016020membrane TAS8898360
    GO:0030127COPII vesicle coat IEA--
    GO:0033116endoplasmic reticulum-Golgi intermediate compartment membrane IEA--

    SEC23B for ontologies           About GeneDecksing



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

    SEC23B for domains           About GeneDecksing

    5 InterPro domains/families:
     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 Q15437

    ProtoNet protein and cluster: Q15437

    4 Blocks protein families:
    IPB006895 Sec23/Sec24 zinc finger
    IPB006896 Sec23/Sec24 trunk domain
    IPB006900 Sec23/Sec24 helical domain
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: SC23B_HUMAN, Q15437
    Similarity: Belongs to the SEC23/SEC24 family. SEC23 subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC23B_HUMAN, Q15437
    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 (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
         
    SEC23B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEC23B:
     Decreased cilium length after   Increased G1 DNA content 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sec23b):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     respiratory system 

    SEC23B for phenotypes           About GeneDecksing

    Animal Models:
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    (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
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport_Clathrin-coated vesicle cycle0.66
    2COPII (Coat Protein 2) Mediated Vesicle Transport
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum1.00
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.46
    5Ubiquitinated Orc1 is degraded by the proteasome
    SREBP Proteolysis0.40

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SEC23B
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SEC23B
        SREBP Proteolysis

    4 GeneGo (Thomson Reuters) Pathways for SEC23B
        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 SEC23B 
        SREBP signalling


    1         Kegg Pathway  (Kegg details for SEC23B):
        Protein processing in endoplasmic reticulum


    SEC23B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEC23B

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

    5/620 Interacting proteins for SEC23B (Q154372, 3 ENSP000002625444) via UniProtKB, MINT, STRING, and/or I2D (see all 620)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEC24DO948553, ENSP000002805514I2D: score=5 STRING: ENSP00000280551
    SEC24CP539923, ENSP000003218454I2D: score=4 STRING: ENSP00000321845
    SEC31BQ9NQW12, ENSP000003593704MINT-7945693 STRING: ENSP00000359370
    DCTN1Q142032, ENSP000003547914MINT-7945693 STRING: ENSP00000354791
    FYCO1Q9BQS83, ENSP000002961374I2D: score=3 STRING: ENSP00000296137
    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:0006886intracellular protein transport IEA--
    GO:0006888ER to Golgi vesicle-mediated transport IEA--
    GO:0016192vesicle-mediated transport TAS8898360

    SEC23B for ontologies           About GeneDecksing



    (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 SEC23B
    Search CenterWatch for drugs/clinical trials and news about SEC23B / SC23B 

    (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, Sirion Biotech, 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 SEC23B gene (5 alternative transcripts): 
    NM_001172745.1  NM_001172746.1  NM_006363.4  NM_032985.4  NM_032986.3  

    Unigene Cluster for SEC23B:

    Sec23 homolog B (S. cerevisiae)
    Hs.369373  [show with all ESTs]
    Unigene Representative Sequence: NM_032985
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450074 ENST00000262544 ENST00000336714(uc010zsb.2 uc002wra.2 uc002wrb.2 uc002wqz.2)
    ENST00000377475 ENST00000474619 ENST00000377465(uc002wrc.2) ENST00000494645
    ENST00000422877

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    hsa-miR-22 hsa-miR-206 hsa-miR-1 hsa-miR-873 hsa-miR-3920 hsa-miR-29a* hsa-miR-651 hsa-miR-613
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    Additional cDNA sequence: 

    AK296270.1 AK299171.1 BC001151.1 BC001575.1 BC005032.1 BC005404.1 BC095404.1 X97065.1 

    21 DOTS entries:

    DT.95229103  DT.95154176  DT.100827989  DT.404422  DT.92449091  DT.120829868  DT.95154172  DT.102831487 
    DT.100827986  DT.120829870  DT.100827994  DT.120829852  DT.100737488  DT.100827990  DT.100827998  DT.100828000 
    DT.91892657  DT.92449108  DT.95154173  DT.95154177  DT.40233612 

    24/368 AceView cDNA sequences (see all 368):

    AI261619 AA634360 BM471654 T34277 BQ644118 BG261063 BM756308 CA487782 
    N73718 BM473799 BU159069 CN482478 AA331500 AI371199 BU508952 BM786209 
    BM834020 CA488609 NM_032986 BI087115 BQ182360 BQ011410 AU130930 BE835189 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SEC23B (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
    SP1:                          -     -     -                                   -     -                                                                           
    SP2:                                -     -                                   -     -                                                                           
    SP3:                                      -                                   -     -                                                                           
    SP4:                                                                          -     -                       -     -     -                                       
    SP5:        -     -     -     -     -     -                                   -     -                                                                           

    ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for SEC23B

    (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

    SEC23B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    SEC23B Expression
    About this image
    See SEC23B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC23B

    SOURCE GeneReport for Unigene cluster: Hs.369373
        SABiosciences Custom PCR Arrays for SEC23B

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SEC23B gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec23b1 , 5 SEC23B (S. cerevisiae)1, 5 90.64(n)1
    97.26(a)1
      2 (71.02 cM)5
    270541  NM_019787.41  NP_062761.21 
     1445562295 
    chicken
    (Gallus gallus)
    Aves SEC23B1 Sec23 homolog B (S. cerevisiae) 79.77(n)
    93.21(a)
      416724  NM_001006179.1  NP_001006179.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC23B6
    --
    92(a)
    1 ↔ 1
    4(79952615-79970498)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX849742.12   -- 78.48(n)    BX849742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045394.12   -- 76.9(n)   327268  BC045394.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sec233 ER to Golgi transport GTPase activator 71(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea sec-233   -- 62(a)   V(20083371-20097668)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G216301 sec23/sec24-like transport protein 52.06(n)
    45.7(a)
      816701  NM_127734.2  NP_179757.1 
    rice
    (Oryza sativa)
    Liliopsida Os.99632 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73(n)    AK064878.1 


    ENSEMBL Gene Tree for SEC23B (if available)
    TreeFam Gene Tree for SEC23B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEC23B gene
    SEC23A2  
    1 SIMAP similar gene for SEC23B using alignment to 3 protein entries:     SC23B_HUMAN (see all proteins):
    SEC23A

    SEC23B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1171 NCBI SNPs in SEC23B are shown (see all 1171    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219182221,2
    Cpathogenic18491519(+) AAGAAC/TGGGAT 10 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1219182211,2
    Cpathogenic18496339(+) CTGCCA/GAATTG 10 K E mis10--------
    rs732548681,2
    C,F--18486293(+) GACAGG/TGTTAA 4 -- us2k12Minor allele frequency- T:0.50WA 4
    rs21806611,2
    C,F,A,H--18486315(+) GCCAGG/CCTTTA 4 -- us2k113Minor allele frequency- C:0.43NS EA NA CSA WA 788
    rs1119548621,2
    C--18486374(+) ACTTCC/TCTGCA 4 -- us2k11Minor allele frequency- T:0.50NA 2
    rs2007285411,2
    --18486393(+) TAACC-/AAAAAG 4 -- us2k10--------
    rs81147141,2
    C--18486519(+) aaacaT/Gctgat 4 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs21452301,2
    C,F,A,H--18486567(+) GTGGCT/ACACGC 4 -- us2k18Minor allele frequency- A:0.15NA WA CSA EA 372
    rs1489394281,2
    --18486610(+) AGAGGA/CTCGCC 5 -- us2k10--------
    rs1925436241,2
    --18486612(+) AGGATC/TGCCTG 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEC23B (18488137 - 18542059 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEC23B: --
    Human Gene Mutation Database (HGMD): SEC23B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEC23B
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC23B

    (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

    SEC23B for disorders           About GeneDecksing

    OMIM gene information: 610512   
    OMIM disorders: 224100  
    UniProtKB/Swiss-Prot: SC23B_HUMAN, Q15437
  • Defects in SEC23B are the cause of congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]. An
  • autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective
    erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features
    include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow
    histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane
    proteins

    10 diseases for SEC23B:    About MalaCards
    congenital dyserythropoietic anemia    dyserythropoietic anemia    anemia    congenital dyserythropoietic anemia ii
    iron overload    siderosis    blood disorders    splenomegaly
    jaundice    malaria

    2 diseases from the University of Copenhagen DISEASES database for SEC23B:
    Anemia     Siderosis
    Human Genome Epidemiology (HuGE) Navigator: SEC23B (2 documents)

    Export disorders for SEC23B 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 SEC23B gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with SEC23B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Congenital dyserythropoietic anemia type II (CDAII) i s caused by mutations in the SEC23B gene. (PubMed id 19621418)1, 2, 3, 9 Bianchi P....Zanella A. (2009)
    2. Cloning and functional characterization of mammalian homologues of the COPII component Sec23. (PubMed id 8898360)1, 2, 3 Paccaud J.-P.... Orci L. (1996)
    3. Mutations affecting the secretory COPII coat componen t SEC23B cause congenital dyserythropoietic anemia type II. (PubMed id 19561605)1, 2 Schwarz K....Heimpel H. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L....Hong W. (1999)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Once phosphorylated, tyrosines in carboxyl terminus of protein-tyrosine kinase Syk interact with signaling proteins, including TULA-2, a negative regulator of mast cell degranulation. (PubMed id 22267732)1 de Castro R.O....Siraganian R.P. (2012)
    9. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (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: 10483 HGNC: 10702 AceView: SEC23B Ensembl:ENSG00000101310 euGenes: HUgn10483
    ECgene: SEC23B Kegg: 10483 H-InvDB: SEC23B

    (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 SEC23B 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 SEC23B gene:
    Search GeneIP for patents involving SEC23B

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in SEC23B promoter
     Search Chromatin IP Primers for SEC23B
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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