Human Gene SEC23B (ENST00000650089.1_7) from GENCODE V47lift37
  Description: SEC23 homolog B, COPII coat complex component, transcript variant 2 (from RefSeq NM_032985.6)
Gencode Transcript: ENST00000650089.1_7
Gencode Gene: ENSG00000101310.17_19
Transcript (Including UTRs)
   Position: hg19 chr20:18,488,584-18,542,059 Size: 53,476 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr20:18,491,480-18,541,384 Size: 49,905 Coding Exon Count: 19 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:18,488,584-18,542,059)mRNA (may differ from genome)Protein (767 aa)
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-  Comments and Description Text from UniProtKB
  ID: SC23B_HUMAN
DESCRIPTION: RecName: Full=Protein transport protein Sec23B; AltName: Full=SEC23-related protein B;
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).
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).
DISEASE: 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.
SIMILARITY: Belongs to the SEC23/SEC24 family. SEC23 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SEC23B
Diseases sorted by gene-association score: dyserythropoietic anemia, congenital, type ii* (1650), cowden syndrome 7* (1229), cowden disease* (118), congenital dyserythropoietic anemia (28), common bile duct disease (7), congenital hemolytic anemia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.6047-0.226 Picture PostScript Text
3' UTR -126.80675-0.188 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007123 - Gelsolin_dom
IPR006900 - Sec23/24_helical_dom
IPR006896 - Sec23/24_trunk_dom
IPR012990 - Sec23_24_beta_S
IPR006895 - Znf_Sec23_Sec24

Pfam Domains:
PF00626 - Gelsolin repeat
PF04810 - Sec23/Sec24 zinc finger
PF04811 - Sec23/Sec24 trunk domain
PF04815 - Sec23/Sec24 helical domain
PF08033 - Sec23/Sec24 beta-sandwich domain

SCOP Domains:
81811 - Helical domain of Sec23/24
81995 - beta-sandwich domain of Sec23/24
53300 - vWA-like
82754 - C-terminal, gelsolin-like domain of Sec23/24
82919 - Zn-finger domain of Sec23/24

ModBase Predicted Comparative 3D Structure on Q15437
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0090114 COPII-coated vesicle budding

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0012505 endomembrane system
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0030127 COPII vesicle coat
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  X97065 - H.sapiens mRNA for Sec23B isoform, 2450bp.
AK296270 - Homo sapiens cDNA FLJ55697 complete cds, highly similar to Protein transport protein Sec23B.
BC095404 - Homo sapiens Sec23 homolog B (S. cerevisiae), mRNA (cDNA clone MGC:110887 IMAGE:30339834), complete cds.
BC005032 - Homo sapiens Sec23 homolog B (S. cerevisiae), mRNA (cDNA clone MGC:12666 IMAGE:3607346), complete cds.
BC001151 - Homo sapiens cDNA clone IMAGE:3354915, containing frame-shift errors.
JD443507 - Sequence 424531 from Patent EP1572962.
AK299171 - Homo sapiens cDNA FLJ61346 complete cds, highly similar to Protein transport protein Sec23B.
BC001575 - Homo sapiens cDNA clone IMAGE:3456202.
AK299513 - Homo sapiens cDNA FLJ54142 complete cds, highly similar to Protein transport protein Sec23B.
JD072697 - Sequence 53721 from Patent EP1572962.
JD072696 - Sequence 53720 from Patent EP1572962.
BC005404 - Homo sapiens Sec23 homolog B (S. cerevisiae), mRNA (cDNA clone MGC:5020 IMAGE:3460841), complete cds.
CU675161 - Synthetic construct Homo sapiens gateway clone IMAGE:100017488 5' read SEC23B mRNA.
CU678874 - Synthetic construct Homo sapiens gateway clone IMAGE:100020546 5' read SEC23B mRNA.
DQ894332 - Synthetic construct Homo sapiens clone IMAGE:100008792; FLH169794.01L; RZPDo839G0395D Sec23 homolog B (S. cerevisiae) (SEC23B) gene, encodes complete protein.
DQ891153 - Synthetic construct clone IMAGE:100003783; FLH169798.01X; RZPDo839G0396D Sec23 homolog B (S. cerevisiae) (SEC23B) gene, encodes complete protein.
KJ893059 - Synthetic construct Homo sapiens clone ccsbBroadEn_02453 SEC23B gene, encodes complete protein.
KJ898225 - Synthetic construct Homo sapiens clone ccsbBroadEn_07619 SEC23B gene, encodes complete protein.
JD286369 - Sequence 267393 from Patent EP1572962.
JD047218 - Sequence 28242 from Patent EP1572962.
JD168045 - Sequence 149069 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DW33, NM_032985, Q15437, Q503A9, Q5W183, Q9BS15, Q9BSI2, Q9H1D7, SC23B_HUMAN, SEC23B , uc328rbz.1, uc328rbz.2
UCSC ID: ENST00000650089.1_7
RefSeq Accession: NM_006363.6
Protein: Q15437 (aka SC23B_HUMAN or S23B_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.