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

SEC23B Gene

protein-coding   GIFtS: 61
GCID: GC20P018488

Sec23 Homolog B (S. Cerevisiae)

(Previous names: Sec23 (S. cerevisiae) homolog B, congenital dyserythropoietic...)
(Previous symbol: CDAN2)
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Clathrin-dependent protein traffic and COPII (Coat Protein 2) Mediated Vesicle Transport. GO annotations related to this gene include zinc ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  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 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: 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

Explore proteomics data for SEC23B at MOPED 

Post-translational modifications:

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

  • SEC23B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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 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 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


    SEC23B 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: 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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    SwitchGear 3'UTR luciferase reporter plasmidSEC23B 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 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
    2COPII (Coat Protein 2) Mediated Vesicle 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 signalling0.37
    5Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    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)

    5/648 Interacting proteins for SEC23B (Q154372, 3 ENSP000002625444) via UniProtKB, MINT, STRING, and/or I2D (see all 648)
    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, 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
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    Browse Tocris compounds for SEC23B (SC23B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    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 

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

    AA333499 CB120759 BM449867 BU618389 BM021217 AL602563 AA002100 BU838999 
    CA440479 CB268622 BE835177 AI261619 BX387258 BC005032 AI089561 W93133 
    AI474622 AA190891 BM986819 BF726519 AA634360 BQ638365 BC001575 CA841758 

    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 <intensity>2/3
    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
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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 10/22 species (see all 22)    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
    Uncharacterized protein
    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)
    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, 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

    10/1430 SNPs in SEC23B are shown (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
    ----------
    VAR_0623074
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0623072 R W mis40--------
    VAR_0622944
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0622942 R W mis40--------
    VAR_0623004
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0623002 D A mis40--------
    VAR_0622964
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0622962 E K mis40--------
    VAR_0623054
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0623052 R C mis40--------
    VAR_0623084
    Congenital dyserythropoietic anemia 2 (CDA2)4--see VAR_0623082 S L mis40--------
    rs2012705681,2,4
    Congenital dyserythropoietic anemia 2 (CDA2)4 --18483985(+) AAGCAC/TGCTTC 10 R C mis10--------
    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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 8 diseases for SEC23B:    About MalaCards
    congenital dyserythropoietic anemia type 2    congenital dyserythropoietic anemia    blood disorders    siderosis
    splenomegaly    anemia    jaundice    gastric cancer

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

    SEC23B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SEC23B gene, integrated from 9 sources (see all 38):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. 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)
    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. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. A family of mammalian proteins homologous to yeast Sec24p. (PubMed id 10329445)1, 3 Tang B.L....Hong W. (1999)
    8. Inherited hematological disorders due to defects in co at protein (COP)II complex. (PubMed id 22764119)1 Russo R....Iolascon A. (2013)
    9. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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
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     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEC23B
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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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    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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