Gene Gene information from NCBI Gene database.
Entrez ID 10484
Gene name SEC23 homolog A, COPII component
Gene symbol SEC23A
Synonyms (NCBI Gene)
CLSDhSec23A
Chromosome 14
Chromosome location 14q21.1
Summary The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has sim
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs118204000 A>G Pathogenic Missense variant, coding sequence variant
rs138568622 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
617
miRTarBase ID miRNA Experiments Reference
MIRT005152 hsa-miR-30a-5p pSILAC 18668040
MIRT016564 hsa-miR-193b-3p Proteomics 21512034
MIRT020062 hsa-miR-375 Microarray 20215506
MIRT028115 hsa-miR-93-5p Sequencing 20371350
MIRT005152 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005515 Function Protein binding IPI 10075675, 16091426, 17499046, 18692470, 18843296, 20946353, 27018634, 27551091, 28442536, 31806350, 32296183, 32814053, 33961781, 34349020, 34504087, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610511 10701 ENSG00000100934
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15436
Protein name Protein transport protein Sec23A (hSec23A) (SEC23-related protein A)
Protein 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 vesicle
PDB 2NUP , 2NUT , 2YRC , 2YRD , 3EFO , 3EG9 , 3EGD , 3EGX , 5KYN , 5KYU , 5KYW , 5KYX , 5KYY , 5VNE , 5VNF , 5VNG , 5VNH , 5VNI , 5VNJ , 5VNK , 5VNL , 5VNM , 5VNN , 5VNO , 8HR0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04810 zf-Sec23_Sec24 58 98 Sec23/Sec24 zinc finger Domain
PF04811 Sec23_trunk 126 390 Sec23/Sec24 trunk domain Domain
PF08033 Sec23_BS 401 504 Sec23/Sec24 beta-sandwich domain Domain
PF04815 Sec23_helical 518 617 Sec23/Sec24 helical domain Domain
PF00626 Gelsolin 629 718 Gelsolin repeat Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8898360}.
Sequence
Sequence length 765
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
114
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniolenticulosutural dysplasia Pathogenic; Likely pathogenic rs118204000, rs2139193533, rs755443033 RCV000001287
RCV002248409
RCV001197517
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs57049071 RCV005918307
Cervical cancer Benign rs57049071 RCV005918309
Cholangiocarcinoma Benign rs2415524, rs62001129 RCV005919981
RCV005923867
Clear cell carcinoma of kidney Uncertain significance rs775163398 RCV005926703
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Dyserythropoietic Congenital Associate 30065114
Arthritis Rheumatoid Associate 35720397
Autoimmune Diseases Associate 29343764
Cap Myopathy Inhibit 21593139
Collagen Diseases Associate 21039434
Glaucoma Associate 34580982
Heart Diseases Associate 37828500
Lupus Erythematosus Systemic Associate 35720397
Melanoma Associate 37356089
Neoplasms Associate 37670384