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SEC23B Gene

protein-coding   GIFtS: 62
GCID: GC20P018488

Sec23 Homolog B (S. Cerevisiae)

(Previous names: Sec23 (S. cerevisiae) homolog B, congenital dyserythropoietic...)
(Previous symbol: CDAN2)
  See SEC23B-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
Sec23 Homolog B (S. Cerevisiae)1 2     CDA-II2
CDAN21 2 5     CDAII2
SEC23-Related Protein B2 3     Protein Transport Protein Sec23B2
HEMPAS2 5     SEC23-Like Protein B2
Congenital Dyserythropoietic Anemia, Type II1     Transport Protein SEC23B2
Sec23 (S. Cerevisiae) Homolog B1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEC23B Gene:
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)

GeneCards Summary for SEC23B Gene:
SEC23B (Sec23 homolog B (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC23B include congenital dyserythropoietic anemia type 2, and congenital dyserythropoietic anemia. An important paralog of this gene is SEC23A.

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 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_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   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 Chromatin IP Primers for SEC23B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
Secondary accessions: D3DW33 Q503A9 Q5W183 Q9BS15 Q9BSI2 Q9H1D7

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

Explore proteomics data for SEC23B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys671
  • Modification sites at PhosphoSitePlus

  • See SEC23B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SEC23B Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for SEC23B
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    Novus Biologicals SEC23B Protein
    Novus Biologicals SEC23B Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SEC23B 

     
    antibodies-online proteins for SEC23B (2 products) 

     
    antibodies-online peptides for SEC23B

    SEC23B Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for SEC23B
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SEC23B
    antibodies-online antibodies for SEC23B (17 products) 

    SEC23B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SEC23B 
    antibodies-online kits for SEC23B (7 products) 


    (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 Q15437

    ProtoNet protein and cluster: Q15437

    4 Blocks protein domains:
    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


    Find genes that share domains with SEC23B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with SEC23B           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     respiratory system 

    Find genes that share phenotypes with SEC23B           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SEC23B

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEC23B:
    hsa-mir-19b-3p (MIRT031137), hsa-let-7b-5p (MIRT032362), hsa-mir-192-5p (MIRT026508), hsa-mir-130b-3p (MIRT020211), hsa-mir-215-5p (MIRT024934)

    Block miRNA regulation of human, mouse, rat SEC23B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC23B (see all 9):
    hsa-miR-22 hsa-miR-206 hsa-miR-1 hsa-miR-873 hsa-miR-3920 hsa-miR-29a* hsa-miR-651 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidSEC23B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEC23B

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): SEC23B (NM_006363)
    Sino Biological Human cDNA Clone for SEC23B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC23B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC23B

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC23B


    (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
    SC23B_HUMAN, Q15437: Golgi apparatus membrane (By similarity). Endoplasmic reticulum membrane (By similarity).
    Endoplasmic reticulum-Golgi intermediate compartment membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    nucleus2
    plasma membrane2

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

    Find genes that share ontologies with SEC23B           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 SEC23B About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin 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
    2ER to Golgi Transport
    Delta508 CFTR traffic ER to Golgi in CF0.36
    Normal wtCFTR traffic ER to Golgi 0.36
    3Chks in Checkpoint Regulation
    SREBP Proteolysis0.43
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.31
    5Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with SEC23B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC23B
    Interactions:

        Search GeneGlobe Interaction Network for SEC23B

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

    Selected Interacting proteins for SEC23B (Q154372, 3 ENSP000002625444) via UniProtKB, MINT, STRING, and/or I2D (see all 706)
    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:    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

    Find genes that share ontologies with SEC23B           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 SEC23B (SC23B)



    (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 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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SEC23B (see all 9):
    hsa-miR-22 hsa-miR-206 hsa-miR-1 hsa-miR-873 hsa-miR-3920 hsa-miR-29a* hsa-miR-651 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidSEC23B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEC23B
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    GenScript: all cDNA clones in your preferred vector (see all 5): SEC23B (NM_006363)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC23B
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    OriGene qPCR primer pairs and template standards for SEC23B
    OriGene qSTAR qPCR primer pairs in human, mouse for SEC23B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC23B
      QuantiTect SYBR Green Assays in human, mouse, rat SEC23B
      QuantiFast Probe-based Assays in human, mouse, rat SEC23B

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 368):

    BU184057 BF726519 AL539923 CR616546 BE835221 BF791790 CB156298 BI088412 
    BQ004648 AI474622 BQ130344 AA397976 BM834031 BC001575 NM_032985 BQ182360 
    BU618180 BQ011410 CD107393 AL602724 BU172666 BM834020 CO247882 H12947 

    GeneLoc Exon Structure

    Selected 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™, 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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    SEC23B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SEC23B Expression
    About this image

    SEC23B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC23B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369373
        Custom PCR Arrays for SEC23B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC23B

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SEC23B gene from Selected species (see all 23)    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_001252543.11  NP_001239472.11 
     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
    Sec23 homolog B (S. cerevisiae)
    92(a)
    1 ↔ 1
    4(79952615-79971812)
    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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC236
    GTPase-activating protein, stimulates the GTPase a...
    50(a)
    1 → many
    XVI(897361-899667) YPR181C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G236601 AT3G23660 53.65(n)
    49.26(a)
      821946  NM_113270.4  NP_189008.1 
    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)
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    Paralogs for SEC23B gene
    SEC23A2  
    1 SIMAP similar gene for SEC23B using alignment to 3 protein entries:     SC23B_HUMAN (see all proteins):
    SEC23A

    Find genes that share paralogs with SEC23B           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 SEC23B (see all 1430)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012705681,2,,4
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4 --18483985(+) AAGCAC/TGCTTC 10 R C mis10--------
    VAR_0623074
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4--see VAR_0623072 R W mis40--------
    VAR_0622944
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4--see VAR_0622942 R W mis40--------
    VAR_0623004
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4--see VAR_0623002 D A mis40--------
    VAR_0622964
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4--see VAR_0622962 E K mis40--------
    VAR_0623084
    Anemia, congenital dyserythropoietic, 2 (CDAN2)4--see VAR_0623082 S L mis40--------
    rs1219182221,2
    Cpathogenic118440508(+) AAGAAC/TGGGAT 10 R W mis11Minor allele frequency- T:0.00NA 4552
    rs1219182211,2
    Cpathogenic118445326(+) CTGCCA/GAATTG 10 K E mis10--------
    rs1219182261,2
    Cpathogenic118454611(+) AAGCAC/TGACCT 10 R * stg10--------
    rs1219182241,2
    Cpathogenic118455519(+) CTTTGC/TGATCC 10 R * stg10--------

    HapMap Linkage Disequilibrium report for SEC23B (18488137 - 18542059 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SEC23B: --
    Human Gene Mutation Database (HGMD): SEC23B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 610512   
    OMIM disorders: 224100  
    UniProtKB/Swiss-Prot: SC23B_HUMAN, Q15437
  • Congenital dyserythropoietic anemia 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for SEC23B:    
    About MalaCards
    congenital dyserythropoietic anemia type 2    congenital dyserythropoietic anemia    siderosis

    2 diseases from the University of Copenhagen DISEASES database for SEC23B:
    Anemia     Siderosis

    Find genes that share disorders with SEC23B           About GenesLikeMe

    Genetic Association Database (GAD): SEC23B
    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)
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    PubMed articles for SEC23B gene, integrated from 10 sources (see all 41):
    (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) is caused by mutations in the SEC23B gene. (PubMed id 19621418)1, 2, 3, 9 Bianchi P.... Zanella A. (Hum. Mutat. 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. (Mol. Biol. Cell 1996)
    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. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (PubMed id 19561605)1, 2 Schwarz K.... Heimpel H. (Nat. Genet. 2009)
    5. 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. (Genome Res. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    7. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L.... Hong W. (Biochem. Biophys. Res. Commun. 1999)
    8. Inherited hematological disorders due to defects in coat protein (COP)II complex. (PubMed id 22764119)1 Russo R....Iolascon A. (Am. J. Hematol. 2013)
    9. 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)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

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

    (According to HUGE)
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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)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, 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 genOway)
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