Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10484
Gene name Gene Name - the full gene name approved by the HGNC.
SEC23 homolog A, COPII component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEC23A
Synonyms (NCBI Gene) Gene synonyms aliases
CLSD, hSec23A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CLSD
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 10075675, 16091426, 17499046, 18692470, 20946353, 27018634, 27551091, 28442536, 31806350, 32296183, 32814053
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610511 10701 ENSG00000100934
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Craniolenticulosutural dysplasia Craniolenticulosutural Dysplasia, Craniolenticulosutural dysplasia rs118204000 16980979
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
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