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    SEC24B SEC24 homolog B, COPII coat complex component [ Homo sapiens (human) ]

    Gene ID: 10427, updated on 10-Dec-2024

    Summary

    Official Symbol
    SEC24Bprovided by HGNC
    Official Full Name
    SEC24 homolog B, COPII coat complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:10704
    See related
    Ensembl:ENSG00000138802 MIM:607184; AllianceGenome:HGNC:10704
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEC24
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.5), liver (RPKM 10.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SEC24B in Genome Data Viewer
    Location:
    4q25
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (109433815..109540896)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (112735946..112843029)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110354971..110462052)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:110223886-110224668 Neighboring gene COL25A1 divergent transcript Neighboring gene RBMX pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:110314172-110314672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:110314673-110315173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:110340209-110340746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:110354865-110355724 Neighboring gene Sharpr-MPRA regulatory region 6018 Neighboring gene SEC24B antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:110374133-110374713 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71781 Neighboring gene RNA, 7SL, cytoplasmic 55, pseudogene Neighboring gene microRNA 576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21802 Neighboring gene CDC42 pseudogene 4 Neighboring gene SET pseudogene 20

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC48822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in COPII-coated vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in COPII-coated vesicle cargo loading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cochlear nucleus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cargo loading into COPII-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of establishment of planar polarity involved in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of COPII vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of COPII vesicle coat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein transport protein Sec24B
    Names
    SEC24 related gene family, member B
    secretory protein 24

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032166.1 RefSeqGene

      Range
      5001..112082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042734.4NP_001036199.1  protein transport protein Sec24B isoform b

      See identical proteins and their annotated locations for NP_001036199.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the 5' and central coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (b) is shorter, compared to isoform c.
      Source sequence(s)
      AC105314, BC040137, BC117135, H15283
      Consensus CDS
      CCDS43260.1
      UniProtKB/TrEMBL
      B4DTM6
      Related
      ENSP00000382051.2, ENST00000399100.6
      Conserved Domains (6) summary
      COG5028
      Location:4281224
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:640883
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11051179
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:567603
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:9831078
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:884968
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    2. NM_001300813.3NP_001287742.1  protein transport protein Sec24B isoform c

      See identical proteins and their annotated locations for NP_001287742.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC105314, BC040137, BC143268, H15283
      Consensus CDS
      CCDS75179.1
      UniProtKB/TrEMBL
      B4DTM6
      Related
      ENSP00000428564.1, ENST00000504968.6
      Conserved Domains (5) summary
      cd01479
      Location:705948
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11701244
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:632668
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:10481143
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:9491033
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    3. NM_001318085.2NP_001305014.1  protein transport protein Sec24B isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (d) is shorter, compared to isoform c.
      Source sequence(s)
      AC105314, BC040137, BC143269, H15283
      UniProtKB/TrEMBL
      B4DTM6
      Conserved Domains (5) summary
      cd01479
      Location:674917
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11391213
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:601637
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:10171112
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:9181002
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    4. NM_001318086.2NP_001305015.1  protein transport protein Sec24B isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two in-frame exons in the 5' and central coding region, compared to variant 3. The encoded isoform (e) is shorter, compared to isoform c.
      Source sequence(s)
      AC105314, AK300278, BC040137, BC143269, H15283
      UniProtKB/TrEMBL
      B4DTM6
      Conserved Domains (5) summary
      cd01479
      Location:639882
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11041178
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:566602
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:9821077
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:883967
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    5. NM_006323.5NP_006314.2  protein transport protein Sec24B isoform a

      See identical proteins and their annotated locations for NP_006314.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (a) is shorter, compared to isoform c.
      Source sequence(s)
      AC105314, BC040137, BC143268, H15283
      Consensus CDS
      CCDS47124.1
      UniProtKB/Swiss-Prot
      B7ZKM8, B7ZKN4, O95487, Q0VG08
      UniProtKB/TrEMBL
      B4DTM6
      Related
      ENSP00000265175.4, ENST00000265175.5
      Conserved Domains (6) summary
      COG5028
      Location:4631259
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:675918
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11401214
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:602638
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:10181113
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:9191003
      Sec23_BS; Sec23/Sec24 beta-sandwich domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      109433815..109540896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007652.3XP_016863141.1  protein transport protein Sec24B isoform X10

      UniProtKB/TrEMBL
      B4DTM6
    2. XM_047449519.1XP_047305475.1  protein transport protein Sec24B isoform X11

      UniProtKB/TrEMBL
      B4DTM6
    3. XM_011531536.4XP_011529838.1  protein transport protein Sec24B isoform X1

      UniProtKB/TrEMBL
      B4DTM6
      Conserved Domains (6) summary
      COG5028
      Location:4391235
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:651894
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11161190
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:578614
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:9941089
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:895979
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    4. XM_047449514.1XP_047305470.1  protein transport protein Sec24B isoform X5

      UniProtKB/TrEMBL
      B4DTM6
    5. XM_047449512.1XP_047305468.1  protein transport protein Sec24B isoform X3

      UniProtKB/TrEMBL
      B4DTM6
    6. XM_047449513.1XP_047305469.1  protein transport protein Sec24B isoform X4

      UniProtKB/TrEMBL
      B4DTM6
    7. XM_011531537.4XP_011529839.1  protein transport protein Sec24B isoform X2

      UniProtKB/TrEMBL
      B4DTM6
      Conserved Domains (6) summary
      COG5028
      Location:4361232
      COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
      cd01479
      Location:648891
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:11131187
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:575611
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:9911086
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:892976
      Sec23_BS; Sec23/Sec24 beta-sandwich domain
    8. XM_047449515.1XP_047305471.1  protein transport protein Sec24B isoform X6

      UniProtKB/TrEMBL
      B4DTM6
    9. XM_047449516.1XP_047305472.1  protein transport protein Sec24B isoform X7

      UniProtKB/TrEMBL
      B4DTM6
    10. XM_047449517.1XP_047305473.1  protein transport protein Sec24B isoform X8

      UniProtKB/TrEMBL
      B4DTM6
    11. XM_047449518.1XP_047305474.1  protein transport protein Sec24B isoform X9

      UniProtKB/TrEMBL
      B4DTM6
    12. XM_047449520.1XP_047305476.1  protein transport protein Sec24B isoform X12

      UniProtKB/TrEMBL
      B4DTM6
    13. XM_047449521.1XP_047305477.1  protein transport protein Sec24B isoform X13

      UniProtKB/TrEMBL
      B4DTM6
    14. XM_011531540.4XP_011529842.1  protein transport protein Sec24B isoform X14

      UniProtKB/TrEMBL
      B4E2E1
      Conserved Domains (5) summary
      cd01479
      Location:140383
      Sec24-like; Sec24-like: Protein and membrane traffic in eukaryotes is mediated by at least in part by the budding and fusion of intracellular transport vesicles that selectively carry cargo proteins and lipids from donor to acceptor organelles. The two main classes ...
      pfam00626
      Location:605679
      Gelsolin; Gelsolin repeat
      pfam04810
      Location:67103
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger
      pfam04815
      Location:483578
      Sec23_helical; Sec23/Sec24 helical domain
      pfam08033
      Location:384468
      Sec23_BS; Sec23/Sec24 beta-sandwich domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      112735946..112843029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348758.1XP_054204733.1  protein transport protein Sec24B isoform X10

      UniProtKB/TrEMBL
      B4DTM6
    2. XM_054348759.1XP_054204734.1  protein transport protein Sec24B isoform X11

      UniProtKB/TrEMBL
      B4DTM6
    3. XM_054348749.1XP_054204724.1  protein transport protein Sec24B isoform X1

      UniProtKB/TrEMBL
      B4DTM6
    4. XM_054348753.1XP_054204728.1  protein transport protein Sec24B isoform X5

      UniProtKB/TrEMBL
      B4DTM6
    5. XM_054348751.1XP_054204726.1  protein transport protein Sec24B isoform X3

      UniProtKB/TrEMBL
      B4DTM6
    6. XM_054348752.1XP_054204727.1  protein transport protein Sec24B isoform X4

      UniProtKB/TrEMBL
      B4DTM6
    7. XM_054348750.1XP_054204725.1  protein transport protein Sec24B isoform X2

      UniProtKB/TrEMBL
      B4DTM6
    8. XM_054348754.1XP_054204729.1  protein transport protein Sec24B isoform X6

      UniProtKB/TrEMBL
      B4DTM6
    9. XM_054348755.1XP_054204730.1  protein transport protein Sec24B isoform X7

      UniProtKB/TrEMBL
      B4DTM6
    10. XM_054348756.1XP_054204731.1  protein transport protein Sec24B isoform X8

      UniProtKB/TrEMBL
      B4DTM6
    11. XM_054348757.1XP_054204732.1  protein transport protein Sec24B isoform X9

      UniProtKB/TrEMBL
      B4DTM6
    12. XM_054348760.1XP_054204735.1  protein transport protein Sec24B isoform X12

      UniProtKB/TrEMBL
      B4DTM6
    13. XM_054348761.1XP_054204736.1  protein transport protein Sec24B isoform X13

      UniProtKB/TrEMBL
      B4DTM6
    14. XM_054348762.1XP_054204737.1  protein transport protein Sec24B isoform X14

      UniProtKB/TrEMBL
      B4E2E1