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Aliases for SEC24B Gene

Aliases for SEC24B Gene

  • SEC24 Homolog B, COPII Coat Complex Component 2 3 5
  • SEC24 (S. Cerevisiae) Related Gene Family, Member B 2
  • SEC24 Family, Member B (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member B 3
  • Protein Transport Protein Sec24B 3
  • SEC24-Related Protein B 4
  • SEC24 Family Member B 2
  • Secretory Protein 24 3
  • 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. Among its related pathways are Metabolism of proteins 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 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 , fRNAdb sequence ontologies and piRNA Summary for SEC24B Gene

Genomics for SEC24B Gene

GeneHancer (GH) Regulatory Elements for SEC24B Gene

Promoters and enhancers for SEC24B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I109432 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.1 +0.3 280 3.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 SEC24B SEC24B-AS1 RBMXP4 CFI RN7SL55P
GH04I108618 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.9 -812.8 -812754 4.2 HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 RPL34 RPL34-AS1 PIR53159 SETP20 SEC24B CDC42P4 OSTC GC04P108610
GH04I110192 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.5 +762.6 762592 7 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 RCOR2 ELOVL6 SEC24B GAR1 SETP20 CDC42P4 CASP6 ENSG00000250511 ENSG00000248200
GH04I109559 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.7 +126.7 126745 2.7 HDGF PKNOX1 ATF1 SMAD1 SIN3A FEZF1 ZNF2 IRF4 GLIS2 ZNF207 GC04M109557 MCUB SEC24B-AS1 SEC24B SETP20 CDC42P4 PIR49237
GH04I109814 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14 +382.4 382352 3.1 FOXA2 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B GAR1 ENSG00000272795 SETP20 SEC24B CDC42P4 CASP6 LRIT3 GC04M109825
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEC24B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEC24B gene promoter:

Genomic Locations for SEC24B Gene

Genomic Locations for SEC24B Gene
chr4:109,433,772-109,540,896
(GRCh38/hg38)
Size:
107,125 bases
Orientation:
Plus strand
chr4:110,354,928-110,462,052
(GRCh37/hg19)

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; Positions=459, 483; 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

No data available for DME Specific Peptides for SEC24B Gene

Domains & Families for SEC24B Gene

Gene Families for SEC24B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SEC24B Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member B
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).

Phenotypes From GWAS Catalog for SEC24B Gene

Gene Ontology (GO) - Molecular Function for SEC24B Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Clone Products

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 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (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

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:0006810 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

Unigene Clusters for SEC24B Gene

SEC24 family, member B (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SEC24B

Expression for SEC24B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SEC24B Gene



Protein tissue co-expression partners for SEC24B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC24B Gene:

SEC24B

SOURCE GeneReport for Unigene cluster for SEC24B Gene:

Hs.292472

Evidence on tissue expression from TISSUES for SEC24B Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with SEC24B: view

Primer Products

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 33 34
  • 98.16 (n)
dog
(Canis familiaris)
Mammalia SEC24B 33 34
  • 92.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SEC24B 33 34
  • 91.19 (n)
mouse
(Mus musculus)
Mammalia Sec24b 33 16 34
  • 83.37 (n)
rat
(Rattus norvegicus)
Mammalia Sec24b 33
  • 82.77 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC24B 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC24B 33 34
  • 76.27 (n)
lizard
(Anolis carolinensis)
Reptilia SEC24B 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec24b 33
  • 68.87 (n)
zebrafish
(Danio rerio)
Actinopterygii wu:fa16f04 33
  • 67.11 (n)
SEC24B 34
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sec24 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-24.2 35 33 34
  • 51.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03729g 33
  • 47.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL239C 33
  • 46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC24 33 34
  • 45.75 (n)
SFB2 34
  • 32 (a)
ManyToMany
barley
(Hordeum vulgare)
Liliopsida Hv.745 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9300 34
  • 56 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec24 33
  • 46.15 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02391 33
  • 45.78 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4768 33
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)

Paralogs for SEC24B Gene

Paralogs for SEC24B Gene

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

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

Variants for SEC24B Gene

Sequence variations from dbSNP and Humsavar for SEC24B Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000004125 -- 109,446,223(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000021036 -- 109,459,642(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000042464 -- 109,536,122(+) C/T intron_variant
rs10000545 -- 109,436,722(+) G/C genic_upstream_transcript_variant, intron_variant
rs10000561 -- 109,492,801(+) T/G genic_upstream_transcript_variant, intron_variant

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

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

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

Disorder Aliases PubMed IDs
neural tube defects
  • neural tube defects, susceptibility to
- 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
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 22 58
  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 22 58
  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 22 58
  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 58
  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 44 58

Products for SEC24B Gene

Sources for SEC24B Gene

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