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

Gene ID: 10427, updated on 3-May-2020

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
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

Genomic context

See SEC24B in Genome Data Viewer
Location:
4q25
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (109433715..109540896)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110354969..110461615)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene COL25A1 divergent transcript Neighboring gene RBMX pseudogene 4 Neighboring gene SEC24B antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 55, pseudogene Neighboring gene microRNA 576 Neighboring gene cell division cycle 42 pseudogene 4 Neighboring gene SET pseudogene 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC48822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
cargo loading into COPII-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cochlear nucleus development IEA
Inferred from Electronic Annotation
more info
 
coronary artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
lung lobe morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pulmonary artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of cargo loading into COPII-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
regulation of establishment of planar polarity involved in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPII vesicle coat IDA
Inferred from Direct Assay
more info
PubMed 
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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)

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_001042734.3NP_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)
    AJ131245, BC040137, BC117135, H15283
    Consensus CDS
    CCDS43260.1
    UniProtKB/Swiss-Prot
    O95487
    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_001300813.2NP_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)
    AJ131245, BC040137, BC143268, H15283
    Consensus CDS
    CCDS75179.1
    UniProtKB/Swiss-Prot
    O95487
    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_001318085.1NP_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)
    AJ131245, BC040137, BC143269, H15283
    UniProtKB/Swiss-Prot
    O95487
    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_001318086.1NP_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)
    AJ131245, AK300278, BC040137, BC143269, H15283
    UniProtKB/Swiss-Prot
    O95487
    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
    O95487
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    109433715..109540896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007652.2XP_016863141.1  protein transport protein Sec24B isoform X7

  2. XM_005262688.1XP_005262745.1  protein transport protein Sec24B isoform X1

    Conserved Domains (6) summary
    COG5028
    Location:4941290
    COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
    cd01479
    Location:706949
    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:11711245
    Gelsolin; Gelsolin repeat
    pfam04810
    Location:633669
    zf-Sec23_Sec24; Sec23/Sec24 zinc finger
    pfam04815
    Location:10491144
    Sec23_helical; Sec23/Sec24 helical domain
    pfam08033
    Location:9501034
    Sec23_BS; Sec23/Sec24 beta-sandwich domain
  3. XM_005262691.1XP_005262748.1  protein transport protein Sec24B isoform X3

    Conserved Domains (5) summary
    cd01479
    Location:670913
    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:11351209
    Gelsolin; Gelsolin repeat
    pfam04810
    Location:597633
    zf-Sec23_Sec24; Sec23/Sec24 zinc finger
    pfam04815
    Location:10131108
    Sec23_helical; Sec23/Sec24 helical domain
    pfam08033
    Location:914998
    Sec23_BS; Sec23/Sec24 beta-sandwich domain
  4. XM_011531535.3XP_011529837.1  protein transport protein Sec24B isoform X2

    Conserved Domains (6) summary
    COG5028
    Location:4591255
    COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
    cd01479
    Location:671914
    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:11361210
    Gelsolin; Gelsolin repeat
    pfam04810
    Location:598634
    zf-Sec23_Sec24; Sec23/Sec24 zinc finger
    pfam04815
    Location:10141109
    Sec23_helical; Sec23/Sec24 helical domain
    pfam08033
    Location:915999
    Sec23_BS; Sec23/Sec24 beta-sandwich domain
  5. XM_011531539.3XP_011529841.1  protein transport protein Sec24B isoform X6

    Conserved Domains (6) summary
    COG5028
    Location:3981194
    COG5028; Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion]
    cd01479
    Location:610853
    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:10751149
    Gelsolin; Gelsolin repeat
    pfam04810
    Location:537573
    zf-Sec23_Sec24; Sec23/Sec24 zinc finger
    pfam04815
    Location:9531048
    Sec23_helical; Sec23/Sec24 helical domain
    pfam08033
    Location:854938
    Sec23_BS; Sec23/Sec24 beta-sandwich domain
  6. XM_011531537.3XP_011529839.1  protein transport protein Sec24B isoform X5

    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
  7. XM_011531536.3XP_011529838.1  protein transport protein Sec24B isoform X4

    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
  8. XM_011531540.3XP_011529842.1  protein transport protein Sec24B isoform X8

    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
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