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 a... See more...

Aliases for SEC24B Gene

Aliases for SEC24B Gene

  • SEC24 Homolog B, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec24B 3 4
  • SEC24 (S. Cerevisiae) Related Gene Family, Member B 2
  • SEC24 Family, Member B (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member B 3
  • SEC24-Related Protein B 4
  • SEC24 Family Member B 2
  • Secretory Protein 24 3
  • SEC24B 5
  • SEC24 3

External Ids for SEC24B Gene

Previous GeneCards Identifiers for SEC24B Gene

  • GC04P110811
  • GC04P110664
  • GC04P110813
  • GC04P110712
  • GC04P110574
  • GC04P110354
  • GC04P106087

Summaries for SEC24B Gene

Entrez Gene Summary for SEC24B Gene

  • 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]

GeneCards Summary for SEC24B Gene

SEC24B (SEC24 Homolog B, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24B include Neural Tube Defects and Craniolenticulosutural Dysplasia. Among its related pathways are Pathogenic Escherichia coli infection and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SEC24A.

UniProtKB/Swiss-Prot Summary for SEC24B Gene

  • Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).

Gene Wiki entry for SEC24B Gene

Additional gene information for SEC24B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC24B Gene

Genomics for SEC24B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC24B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC24B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC24B

Top Transcription factor binding sites by QIAGEN in the SEC24B gene promoter:
  • Arnt
  • C/EBPbeta
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • GATA-2
  • HEN1
  • ISGF-3
  • POU2F1

Genomic Locations for SEC24B Gene

Genomic Locations for SEC24B Gene
chr4:109,433,715-109,540,896
(GRCh38/hg38)
Size:
107,182 bases
Orientation:
Plus strand
chr4:110,354,928-110,462,052
(GRCh37/hg19)
Size:
107,125 bases
Orientation:
Plus strand

Genomic View for SEC24B Gene

Genes around SEC24B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC24B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC24B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC24B Gene

Proteins for SEC24B Gene

  • Protein details for SEC24B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95487-SC24B_HUMAN
    Recommended name:
    Protein transport protein Sec24B
    Protein Accession:
    O95487
    Secondary Accessions:
    • B7ZKM8
    • B7ZKN4
    • Q0VG08

    Protein attributes for SEC24B Gene

    Size:
    1268 amino acids
    Molecular mass:
    137418 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and SAR1 (PubMed:10075675, PubMed:17499046). Interacts with RNF139 (PubMed:19706601). Interacts with TMED2 and TMED10 (PubMed:20427317). Interacts with CNIH4 (PubMed:24405750).
    SequenceCaution:
    • Sequence=CAA10335.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC24B Gene

    Alternative splice isoforms for SEC24B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC24B Gene

Post-translational modifications for SEC24B Gene

  • Glycosylation at Ser139 and Ser149
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC24B Gene

Domains & Families for SEC24B Gene

Gene Families for SEC24B Gene

Protein Domains for SEC24B Gene

InterPro:
Blocks:
  • MIP family
  • Sec23/Sec24 zinc finger
  • Sec23/Sec24 trunk domain
  • Sec23/Sec24 helical domain
  • Gelsolin region
ProtoNet:

Suggested Antigen Peptide Sequences for SEC24B Gene

GenScript: Design optimal peptide antigens:
  • SEC24-related protein B (SC24B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95487

UniProtKB/Swiss-Prot:

SC24B_HUMAN :
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
Family:
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
genes like me logo Genes that share domains with SEC24B: view

Function for SEC24B Gene

Molecular function for SEC24B Gene

UniProtKB/Swiss-Prot Function:
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296).
GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member B

Phenotypes From GWAS Catalog for SEC24B Gene

Gene Ontology (GO) - Molecular Function for SEC24B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0005515 protein binding IPI 19706601
GO:0008270 zinc ion binding IDA 18843296
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC24B: view
genes like me logo Genes that share phenotypes with SEC24B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC24B Gene

Localization for SEC24B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC24B Gene

Cytoplasmic vesicle, COPII-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Endoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC24B gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endosome 2
lysosome 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC24B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC24B: view

Pathways & Interactions for SEC24B Gene

genes like me logo Genes that share pathways with SEC24B: view

Pathways by source for SEC24B Gene

4 GeneGo (Thomson Reuters) pathways for SEC24B Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 Qiagen pathway for SEC24B Gene
  • SREBP Proteolysis
1 Cell Signaling Technology pathway for SEC24B Gene

Gene Ontology (GO) - Biological Process for SEC24B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0002093 auditory receptor cell morphogenesis IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0003151 outflow tract morphogenesis IEA --
GO:0006886 intracellular protein transport IEA --
genes like me logo Genes that share ontologies with SEC24B: view

No data available for SIGNOR curated interactions for SEC24B Gene

Drugs & Compounds for SEC24B Gene

No Compound Related Data Available

Transcripts for SEC24B Gene

mRNA/cDNA for SEC24B Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24B

Alternative Splicing Database (ASD) splice patterns (SP) for SEC24B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13: - -

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SEC24B Gene

GeneLoc Exon Structure for
SEC24B

Expression for SEC24B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC24B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC24B Gene



Protein tissue co-expression partners for SEC24B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC24B

SOURCE GeneReport for Unigene cluster for SEC24B Gene:

Hs.292472

Evidence on tissue expression from TISSUES for SEC24B Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Eye(4.4)
  • Kidney(2.5)
  • Muscle(2.4)
  • Skin(2.3)
  • Intestine(2.2)
  • Heart(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with SEC24B: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC24B Gene

Orthologs for SEC24B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC24B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC24B 30 31
  • 98.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC24B 30 31
  • 92.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SEC24B 30 31
  • 91.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec24b 30 17 31
  • 83.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec24b 30
  • 82.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia SEC24B 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEC24B 30 31
  • 76.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC24B 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec24b 30
  • 68.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii wu:fa16f04 30
  • 67.11 (n)
SEC24B 31
  • 62 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sec24 31
  • 42 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-24.2 30 31 32
  • 51.94 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03729g 30
  • 47.98 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL239C 30
  • 46 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC24 30 31
  • 45.75 (n)
ManyToMany
SFB2 31
  • 32 (a)
ManyToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.745 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9300 31
  • 56 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec24 30
  • 46.15 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02391 30
  • 45.78 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4768 30
Species where no ortholog for SEC24B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC24B Gene

ENSEMBL:
Gene Tree for SEC24B (if available)
TreeFam:
Gene Tree for SEC24B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC24B: view image

Paralogs for SEC24B Gene

Paralogs for SEC24B Gene

(3) SIMAP similar genes for SEC24B Gene using alignment to 2 proteins:

  • SC24B_HUMAN
  • B7ZKM8_HUMAN
genes like me logo Genes that share paralogs with SEC24B: view

Variants for SEC24B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC24B Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
767969 Benign: not provided 109,462,891(+) G/GCTTTT INTRON_VARIANT
rs35705351 - p.Ala456Gly

Additional dbSNP identifiers (rs#s) for SEC24B Gene

Structural Variations from Database of Genomic Variants (DGV) for SEC24B Gene

Variant ID Type Subtype PubMed ID
dgv9215n54 CNV gain 21841781
dgv9216n54 CNV gain 21841781
esv24031 CNV loss 19812545
esv2667224 CNV deletion 23128226
esv2677495 CNV deletion 23128226
esv3306392 CNV mobile element insertion 20981092
esv3420411 CNV insertion 20981092
esv3601742 CNV loss 21293372
esv3601743 CNV loss 21293372
esv3601744 CNV loss 21293372
esv3601746 CNV loss 21293372
nsv1120489 CNV tandem duplication 24896259
nsv292772 CNV insertion 16902084
nsv4461 CNV insertion 18451855
nsv4462 CNV insertion 18451855
nsv461613 CNV gain 19166990
nsv525385 CNV loss 19592680
nsv595129 CNV gain 21841781
nsv595132 CNV loss 21841781
nsv595136 CNV gain 21841781

Variation tolerance for SEC24B Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC24B Gene

Human Gene Mutation Database (HGMD)
SEC24B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC24B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC24B Gene

Disorders for SEC24B Gene

MalaCards: The human disease database

(6) MalaCards diseases for SEC24B Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC24B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SEC24B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC24B Gene

Publications for SEC24B Gene

  1. Sec24 proteins and sorting at the endoplasmic reticulum. (PMID: 10075675) Pagano A … Paccaud JP (The Journal of biological chemistry 1999) 2 3 4 23
  2. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C … Hauri HP (Journal of cell science 2010) 3 4 23
  3. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery. (PMID: 18843296) Mancias JD … Goldberg J (The EMBO journal 2008) 3 4 23
  4. CNIH4 interacts with newly synthesized GPCR and controls their export from the endoplasmic reticulum. (PMID: 24405750) Sauvageau E … Bouvier M (Traffic (Copenhagen, Denmark) 2014) 3 4
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 41

Products for SEC24B Gene

Sources for SEC24B Gene