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Aliases for SEC23B Gene

Aliases for SEC23B Gene

  • Sec23 Homolog B, Coat Complex II Component 2 3 5
  • Sec23 Homolog B, COPII Coat Complex Component 2 3
  • SEC23-Related Protein B 3 4
  • HSec23B 3 4
  • Congenital Dyserythropoietic Anemia, Type II 2
  • Protein Transport Protein Sec23B 3
  • Sec23 (S. Cerevisiae) Homolog B 2
  • Sec23 Homolog B (S. Cerevisiae) 2
  • Transport Protein SEC23B 3
  • SEC23-Like Protein B 3
  • CDA-II 3
  • HEMPAS 3
  • CDAII 3
  • 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, Coat Complex II Component) is a Protein Coding gene. Diseases associated with SEC23B include Dyserythropoietic Anemia, Congenital, Type Ii and Cowden Syndrome 7. Among its related pathways are Protein processing in endoplasmic reticulum and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). An important paralog of this gene is SEC23A.

UniProtKB/Swiss-Prot 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

Additional gene information for SEC23B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC23B Gene

Genomics for SEC23B Gene

Regulatory Elements for SEC23B Gene

Enhancers for SEC23B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H018506 1.1 ENCODE 23.3 +0.2 216 2.2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SEC23B SMIM26 LOC100270804 POLR3F DZANK1 RN7SKP74 GC20P018562
GH20H018496 1.1 ENCODE 22.9 -10.4 -10432 1.6 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 SEC23B SMIM26 RBBP9 RPL21P3
GH20H018566 1.1 ENCODE 21.6 +60.0 60004 2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SEC23B SMIM26 RBBP9 DTD1 DZANK1 POLR3F RN7SL638P
GH20H018737 1 Ensembl ENCODE 18.2 +231.5 231478 2.9 PKNOX1 KLF1 ATF1 KLF17 MAX CEBPG FOXK2 ATF7 EGR2 L3MBTL2 SEC23B SMIM26 DTD1 DZANK1 EEF1A1P34 LOC101929526
GH20H018543 0.7 ENCODE 25.3 +36.7 36736 0.9 FOXA2 MAX FEZF1 REST ZIC2 RAD21 GABPA YY1 JUND ATF3 SEC23B RBBP9 DZANK1 POLR3F DTD1 GC20P018562
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC23B on UCSC Golden Path with GeneCards custom track

Promoters for SEC23B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135240 407 1801 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Locations for SEC23B Gene

Genomic Locations for SEC23B Gene
chr20:18,507,493-18,561,415
(GRCh38/hg38)
Size:
53,923 bases
Orientation:
Plus strand
chr20:18,488,137-18,542,059
(GRCh37/hg19)

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 isoforms=671
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC23B Gene

Domains & Families for SEC23B Gene

Gene Families for SEC23B Gene

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

Suggested Antigen Peptide Sequences for SEC23B Gene

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.

Gene Ontology (GO) - Molecular Function for SEC23B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc 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:

Animal Model Products

CRISPR Products

miRNA for SEC23B Gene

miRTarBase miRNAs that target SEC23B

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
golgi apparatus 5
cytosol 3
nucleus 2
plasma membrane 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:0005783 endoplasmic reticulum IDA,IEA 26522472
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0012505 endomembrane system IDA 21364188
genes like me logo Genes that share ontologies with SEC23B: view

Pathways & Interactions for SEC23B Gene

genes like me logo Genes that share pathways with SEC23B: view

Gene Ontology (GO) - Biological Process for SEC23B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
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 --
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

Unigene Clusters for SEC23B Gene

Sec23 homolog B (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SEC23B

Expression for SEC23B Gene

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

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, PaxDb, MaxQB, and MOPED for SEC23B Gene



Protein tissue co-expression partners for SEC23B Gene

NURSA nuclear receptor signaling pathways regulating expression of SEC23B Gene:

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(4.6)
  • Liver(4.4)
  • Blood(2.8)
  • Bone marrow(2.5)

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
Organs:
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 expression in embryonic tissues and stem cells from LifeMap Discovery and 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 33 34
  • 99.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC23B 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC23B 33 34
  • 92.83 (n)
mouse
(Mus musculus)
Mammalia Sec23b 33 16 34
  • 90.64 (n)
rat
(Rattus norvegicus)
Mammalia Sec23b 33
  • 90.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEC23B 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEC23B 33 34
  • 88.66 (n)
chicken
(Gallus gallus)
Aves SEC23A 34
  • 93 (a)
OneToOne
SEC23B 33
  • 79.77 (n)
lizard
(Anolis carolinensis)
Reptilia SEC23B 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec23b 33
  • 77.55 (n)
zebrafish
(Danio rerio)
Actinopterygii sec23b 33 34
  • 75.38 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta sec23 35 34
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea sec-23 35 34
  • 62 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC23 34
  • 50 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G23660 33
  • 53.65 (n)
soybean
(Glycine max)
eudicotyledons Gma.8062 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3889 33
rice
(Oryza sativa)
Liliopsida Os.9963 33
wheat
(Triticum aestivum)
Liliopsida Ta.7660 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1036 34
  • 71 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4239 33
Species where no ortholog for SEC23B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for SEC23B Gene

Paralogs for SEC23B Gene

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

genes like me logo Genes that share paralogs with SEC23B: view

Variants for SEC23B Gene

Sequence variations from dbSNP and Humsavar for SEC23B Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121918221 Pathogenic, Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] 18,515,695(+) CTGCC(A/G)AATTG reference, missense
rs121918222 Pathogenic, Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] 18,510,875(+) AAGAA(C/T)GGGAT reference, missense
rs121918223 Pathogenic, Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] 18,543,095(+) TGGCA(C/T)GGCTT reference, missense
rs201270568 Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100] 18,554,343(+) AAGCA(C/T)GCTTC reference, missense
rs36023150 Pathogenic, Cowden syndrome 7 (CWS7) [MIM:616858] 18,524,556(+) CTCTG(G/T)TGGGT reference, missense

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

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

Relevant External Links for SEC23B Gene

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

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

Disorders for SEC23B Gene

MalaCards: The human disease database

(6) MalaCards diseases for SEC23B Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyserythropoietic anemia, congenital, type ii
  • congenital dyserythropoietic anemia type 2
cowden syndrome 7
  • cws7
cowden disease
  • dysplastic gangliocytoma of cerebellum
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
common bile duct disease
  • common bile duct diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC23B_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for SEC23B

Genetic Association Database (GAD)
SEC23B
Human Genome Epidemiology (HuGE) Navigator
SEC23B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC23B
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 60
  2. 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 60
  3. 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 60
  4. 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 45 60
  5. 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 60

Products for SEC23B Gene

Sources for SEC23B Gene

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