The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. M... See more...

Aliases for SEC23B Gene

Aliases for SEC23B Gene

  • SEC23 Homolog B, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec23B 3 4
  • SEC23-Related Protein B 3 4
  • HSec23B 3 4
  • CDA-II 2 3
  • HEMPAS 2 3
  • CDAII 2 3
  • Congenital Dyserythropoietic Anemia, Type II 2
  • SEC23 Homolog B, Coat Complex II Component 3
  • Sec23 (S. Cerevisiae) Homolog B 2
  • Sec23 Homolog B (S. Cerevisiae) 2
  • Transport Protein SEC23B 3
  • SEC23-Like Protein B 3
  • SEC23B 5
  • CDAN2 3
  • CWS7 3

External Ids for SEC23B Gene

Previous HGNC Symbols for SEC23B Gene

  • CDAN2

Previous GeneCards Identifiers for SEC23B Gene

  • GC20P018476
  • GC20P018483
  • GC20P018437
  • GC20P018439
  • GC20P018441
  • GC20P018444
  • GC20P018447
  • GC20P018488
  • GC20P018452

Summaries for SEC23B Gene

Entrez Gene Summary for SEC23B Gene

  • The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GeneCards Summary for SEC23B Gene

SEC23B (SEC23 Homolog B, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC23B include Anemia, Congenital Dyserythropoietic, Type Ii and Cowden Syndrome 7. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Chks in Checkpoint Regulation. An important paralog of this gene is SEC23A.

UniProtKB/Swiss-Prot Summary for SEC23B 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.

Gene Wiki entry for SEC23B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC23B Gene

Genomics for SEC23B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC23B 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 SEC23B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC23B

Top Transcription factor binding sites by QIAGEN in the SEC23B gene promoter:
  • AREB6
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • GATA-2
  • Nkx2-5
  • RORalpha2
  • STAT5B

Genomic Locations for SEC23B Gene

Latest Assembly
chr20:18,507,520-18,561,415
(GRCh38/hg38)
Size:
53,896 bases
Orientation:
Plus strand

Previous Assembly
chr20:18,488,192-18,542,059
(GRCh37/hg19 by Entrez Gene)
Size:
53,868 bases
Orientation:
Plus strand

chr20:18,488,137-18,542,059
(GRCh37/hg19 by Ensembl)
Size:
53,923 bases
Orientation:
Plus strand

Genomic View for SEC23B Gene

Genes around SEC23B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC23B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC23B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC23B Gene

Proteins for SEC23B Gene

  • Protein details for SEC23B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15437-SC23B_HUMAN
    Recommended name:
    Protein transport protein Sec23B
    Protein Accession:
    Q15437
    Secondary Accessions:
    • D3DW33
    • Q503A9
    • Q5W183
    • Q9BS15
    • Q9BSI2
    • Q9H1D7

    Protein attributes for SEC23B Gene

    Size:
    767 amino acids
    Molecular mass:
    86479 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (By similarity). Interacts with SAR1A (PubMed:26522472).

neXtProt entry for SEC23B Gene

Post-translational modifications for SEC23B Gene

  • Ubiquitination at Lys671
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC23B Gene

Domains & Families for SEC23B Gene

Gene Families for SEC23B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEC23B Gene

Suggested Antigen Peptide Sequences for SEC23B Gene

GenScript: Design optimal peptide antigens:
  • Sec23 homolog B (S. cerevisiae) (Q5QPE1_HUMAN)
  • SEC23-related protein B (SC23B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15437

UniProtKB/Swiss-Prot:

SC23B_HUMAN :
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
Family:
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
genes like me logo Genes that share domains with SEC23B: view

Function for SEC23B Gene

Molecular function for SEC23B 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.

Phenotypes From GWAS Catalog for SEC23B Gene

Gene Ontology (GO) - Molecular Function for SEC23B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC23B: view
genes like me logo Genes that share phenotypes with SEC23B: view

Human Phenotype Ontology for SEC23B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC23B Gene

MGI Knock Outs for SEC23B:
  • Sec23b Sec23b<tm1a(EUCOMM)Wtsi>
  • Sec23b Sec23b<tm1b(EUCOMM)Wtsi>
  • Sec23b Sec23b<tm1d(EUCOMM)Wtsi>

miRNA for SEC23B Gene

miRTarBase miRNAs that target SEC23B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC23B

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEC23B Gene

Localization for SEC23B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC23B 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 SEC23B gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
golgi apparatus 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEC23B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 26522472
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with SEC23B: view

Pathways & Interactions for SEC23B Gene

PathCards logo

SuperPathways for SEC23B Gene

SuperPathway Contained pathways
1 Delta508-CFTR traffic / ER-to-Golgi in CF
.33
.33
.33
.32
2 Protein processing in endoplasmic reticulum
3 Chks in Checkpoint Regulation
.43
4 Sterol Regulatory Element-Binding Proteins (SREBP) signalling
genes like me logo Genes that share pathways with SEC23B: view

Pathways by source for SEC23B Gene

1 KEGG pathway for SEC23B Gene
4 GeneGo (Thomson Reuters) pathways for SEC23B 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 SEC23B Gene
  • SREBP Proteolysis

Gene Ontology (GO) - Biological Process for SEC23B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SEC23B: view

No data available for SIGNOR curated interactions for SEC23B Gene

Drugs & Compounds for SEC23B Gene

No Compound Related Data Available

Transcripts for SEC23B Gene

mRNA/cDNA for SEC23B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC23B

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEC23B Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6:
SP7: - -
SP8:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SEC23B Gene

GeneLoc Exon Structure for
SEC23B

Expression for SEC23B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC23B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC23B Gene

This gene is overexpressed in Salivary gland (12.5), Lymph node (8.2), Breast (7.6), and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC23B Gene



Protein tissue co-expression partners for SEC23B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC23B

SOURCE GeneReport for Unigene cluster for SEC23B Gene:

Hs.369373

mRNA Expression by UniProt/SwissProt for SEC23B Gene:

Q15437-SC23B_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SEC23B Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Blood(2.5)
  • Kidney(2.5)
  • Skin(2.4)
  • Stomach(2.3)
  • Pancreas(2.3)
  • Bone marrow(2.2)
  • Intestine(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC23B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with SEC23B: view

No data available for mRNA differential expression in normal tissues for SEC23B Gene

Orthologs for SEC23B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC23B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC23B 29 30
  • 99.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEC23B 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC23B 29 30
  • 92.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec23b 29 16 30
  • 90.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec23b 29
  • 90.56 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC23B 30
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC23B 29 30
  • 88.66 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SEC23A 30
  • 93 (a)
OneToOne
SEC23B 29
  • 79.77 (n)
Lizard
(Anolis carolinensis)
Reptilia SEC23B 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec23b 29
  • 77.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii sec23b 29 30
  • 75.38 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta sec23 30 31
  • 73 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sec-23 30 31
  • 56 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC23 30
  • 50 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G23660 29
  • 53.65 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3889 29
Soybean
(Glycine max)
eudicotyledons Gma.8062 29
Rice
(Oryza sativa)
Liliopsida Os.9963 29
Wheat
(Triticum aestivum)
Liliopsida Ta.7660 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1036 30
  • 71 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4239 29
Species where no ortholog for SEC23B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SEC23B Gene

ENSEMBL:
Gene Tree for SEC23B (if available)
TreeFam:
Gene Tree for SEC23B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC23B: view image
Alliance of Genome Resources:
Additional Orthologs for SEC23B

Paralogs for SEC23B Gene

Paralogs for SEC23B Gene

(1) SIMAP similar genes for SEC23B Gene using alignment to 3 proteins:

  • SC23B_HUMAN
  • Q5QPE1_HUMAN
  • Q5QPE2_HUMAN
genes like me logo Genes that share paralogs with SEC23B: view

Variants for SEC23B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC23B Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1016539 Uncertain Significance: Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 18,543,002(+) AACTCTGGAAT/A
NM_006363.6(SEC23B):c.1512-16_1512-7del
INTRON
1026986 Uncertain Significance: Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 18,542,366(+) C/T
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile)
MISSENSE
1030101 Uncertain Significance: Congenital dyserythropoietic anemia, type II 18,510,821(+) G/A
NM_006363.6(SEC23B):c.-14-1G>A
SPLICE_ACCEPTOR
1030102 Uncertain Significance: Cowden syndrome 7 18,524,640(+) A/C
NM_006363.6(SEC23B):c.574A>C (p.Thr192Pro)
MISSENSE
1032438 Uncertain Significance: Cowden syndrome 7 18,512,147(+) C/T
NM_006363.6(SEC23B):c.222-78C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC23B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEC23B Gene

Variant ID Type Subtype PubMed ID
dgv4283n100 CNV loss 25217958
nsv1062244 CNV gain 25217958

Variation tolerance for SEC23B Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.36; 85.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC23B Gene

Human Gene Mutation Database (HGMD)
SEC23B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC23B
Leiden Open Variation Database (LOVD)
SEC23B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC23B Gene

Disorders for SEC23B Gene

MalaCards: The human disease database

(14) MalaCards diseases for SEC23B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC23B_HUMAN
  • Cowden syndrome 7 (CWS7) [MIM:616858]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. {ECO:0000269 PubMed:26522472}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. {ECO:0000269 PubMed:19561605, ECO:0000269 PubMed:19621418}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SEC23B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEC23B: view

No data available for Genatlas for SEC23B Gene

Publications for SEC23B Gene

  1. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (PMID: 19621418) Bianchi P … Zanella A (Human mutation 2009) 2 3 4 22
  2. Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. (PMID: 26522472) Yehia L … Eng C (American journal of human genetics 2015) 3 4 72
  3. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (PMID: 19561605) Schwarz K … Heimpel H (Nature genetics 2009) 3 4 72
  4. Cloning and functional characterization of mammalian homologues of the COPII component Sec23. (PMID: 8898360) Paccaud JP … Orci L (Molecular biology of the cell 1996) 2 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for SEC23B Gene

Sources for SEC23B Gene