Human Gene SEC24B (uc011cfr.2)
  Description: Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 2, mRNA.
RefSeq Summary (NM_001042734): The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].
Transcript (Including UTRs)
   Position: hg19 chr4:110,354,971-110,461,615 Size: 106,645 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr4:110,355,026-110,460,831 Size: 105,806 Coding Exon Count: 23 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:110,354,971-110,461,615)mRNA (may differ from genome)Protein (1232 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SEC24B
CDC HuGE Published Literature: SEC24B

-  MalaCards Disease Associations
  MalaCards Gene Search: SEC24B
Diseases sorted by gene-association score: neural tube defects (5)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.89 RPKM in Breast - Mammary Tissue
Total median expression: 519.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.0055-0.236 Picture PostScript Text
3' UTR -171.50784-0.219 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
  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
55753 - Actin depolymerizing proteins
82754 - C-terminal, gelsolin-like domain of Sec23/24
82919 - Zn-finger domain of Sec23/24

ModBase Predicted Comparative 3D Structure on O95487-2
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
   FlyBaseWormBase 
   Protein SequenceProtein Sequence 
   AlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  AJ131245 - Homo sapiens mRNA for Sec24 protein (Sec24B isoform).
BC143268 - Homo sapiens SEC24 family, member B (S. cerevisiae), mRNA (cDNA clone MGC:176787 IMAGE:9051770), complete cds.
BC117135 - Homo sapiens SEC24 family, member B (S. cerevisiae), mRNA (cDNA clone MGC:150744 IMAGE:40125686), complete cds.
BC143269 - Homo sapiens cDNA clone IMAGE:9051771, containing frame-shift errors.
BC143276 - Homo sapiens SEC24 family, member B (S. cerevisiae), mRNA (cDNA clone MGC:176795 IMAGE:9051778), complete cds.
BC040137 - Homo sapiens SEC24 family, member B (S. cerevisiae), mRNA (cDNA clone MGC:48822 IMAGE:5492331), complete cds.
AK300278 - Homo sapiens cDNA FLJ61391 complete cds, highly similar to Protein transport protein Sec24B.
JD132712 - Sequence 113736 from Patent EP1572962.
AK304234 - Homo sapiens cDNA FLJ54322 complete cds, highly similar to Protein transport protein Sec24B.
JD518262 - Sequence 499286 from Patent EP1572962.
JD501865 - Sequence 482889 from Patent EP1572962.
JD430721 - Sequence 411745 from Patent EP1572962.
JD226313 - Sequence 207337 from Patent EP1572962.
JD508599 - Sequence 489623 from Patent EP1572962.
JD509253 - Sequence 490277 from Patent EP1572962.
JD157838 - Sequence 138862 from Patent EP1572962.
JD490659 - Sequence 471683 from Patent EP1572962.
JD200098 - Sequence 181122 from Patent EP1572962.
JD156685 - Sequence 137709 from Patent EP1572962.
JD301103 - Sequence 282127 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95487 (Reactome details) participates in the following event(s):

R-HSA-983422 Disassembly of COPII coated vesicle
R-HSA-5694421 PP6 dephosphorylates SEC24
R-HSA-5694415 SEC24A,B:SEC23A bind SEC22B
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-203979 Coat Assembly
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-983426 Capturing cargo and formation of prebudding complex
R-HSA-983425 Recruitment of Sec31p:Sec13p to prebudding complex and formation of COPII vesicle
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-983424 Budding of COPII coated vesicle
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-2130731 Formation of COPII vesicle
R-HSA-2213243 Fusion of COPII vesicle with Golgi complex
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-983170 Antigen Presentation: Folding, assembly and peptide loading of class I MHC
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-5694530 Cargo concentration in the ER
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-1280218 Adaptive Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-2132295 MHC class II antigen presentation
R-HSA-8957322 Metabolism of steroids
R-HSA-168256 Immune System
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-556833 Metabolism of lipids
R-HSA-597592 Post-translational protein modification
R-HSA-1430728 Metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AK300278, NM_001042734, NP_001036199, O95487-2
UCSC ID: uc011cfr.2
RefSeq Accession: NM_001042734
Protein: O95487-2, splice isoform of O95487 CCDS: CCDS43260.1, CCDS47124.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK300278.1
exon count: 23CDS single in 3' UTR: no RNA size: 3666
ORF size: 3699CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 7583.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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