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 similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. Th... See more...

Aliases for SEC23A Gene

Aliases for SEC23A Gene

  • SEC23 Homolog A, COPII Coat Complex Component 2 3
  • Sec23 Homolog A, COPII Coat Complex Component 2 5
  • Protein Transport Protein Sec23A 3 4
  • SEC23-Related Protein A 3 4
  • HSec23A 3 4
  • Sec23 Homolog A, Coat Complex II Component 3
  • Sec23 (S. Cerevisiae) Homolog A 2
  • Sec23 Homolog A (S. Cerevisiae) 2
  • SEC23A 5
  • CLSD 3

External Ids for SEC23A Gene

Previous GeneCards Identifiers for SEC23A Gene

  • GC14M036881
  • GC14M033358
  • GC14M037491
  • GC14M038570
  • GC14M039501
  • GC14M019615

Summaries for SEC23A Gene

Entrez Gene Summary for SEC23A 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 similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEC23A Gene

SEC23A (SEC23 Homolog A, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC23A include Craniolenticulosutural Dysplasia and Congenital Dyserythropoietic Anemia. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Delta508-CFTR traffic / ER-to-Golgi in CF. An important paralog of this gene is SEC23B.

UniProtKB/Swiss-Prot Summary for SEC23A 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. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity).

Gene Wiki entry for SEC23A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC23A Gene

Genomics for SEC23A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC23A 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
GH14J039101 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 255.4 +6.5 6502 3.9 MYC IKZF1 SSRP1 ATF2 KLF9 POLR2A CEBPA ZIC2 CHD4 ZBTB10 SEC23A SEC23A-AS1 PNN RPL7AP2 ENSG00000259083 GEMIN2 MIA2 TRAPPC6B PPIAP4 CLEC14A
GH14J039110 Enhancer 0.6 ENCODE 250.7 -0.7 -686 0.2 NCOR1 TAL1 HDAC2 TCF12 ELF3 ZBTB40 ARID1B MBD1 KDM1A CBFA2T2 SEC23A GEMIN2 LOC105370459 lnc-SEC23A-3
GH14J039109 Enhancer 0.6 Ensembl 250.7 -0.4 -429 0.3 NCOR1 TAL1 HDAC2 ELF3 ZBTB40 ARID1B KDM1A CBFA2T2 POLR2A CBFA2T3 SEC23A PPIAP4 MIA2 GEMIN2 LOC105370459 lnc-SEC23A-3
GH14J039111 Enhancer 0.5 ENCODE 250.7 -0.9 -917 0.1 NCOR1 TAL1 ELF3 ARID1B MBD1 KDM1A CBFA2T2 SEC23A GEMIN2 LOC105370459 lnc-SEC23A-3
GH14J039041 Promoter 0.3 EPDnew 250.2 +68.2 68218 0.1 lnc-SEC23A-2 SEC23A piR-46501-033 CLEC14A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC23A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC23A

Top Transcription factor binding sites by QIAGEN in the SEC23A gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • IRF-7A
  • RORalpha2
  • ZIC2

Genomic Locations for SEC23A Gene

Latest Assembly
chr14:39,031,919-39,109,646
(GRCh38/hg38)
Size:
77,728 bases
Orientation:
Minus strand

Previous Assembly
chr14:39,501,123-39,572,439
(GRCh37/hg19 by Entrez Gene)
Size:
71,317 bases
Orientation:
Minus strand

chr14:39,501,123-39,578,850
(GRCh37/hg19 by Ensembl)
Size:
77,728 bases
Orientation:
Minus strand

Genomic View for SEC23A Gene

Genes around SEC23A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC23A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC23A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC23A Gene

Proteins for SEC23A Gene

  • Protein details for SEC23A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15436-SC23A_HUMAN
    Recommended name:
    Protein transport protein Sec23A
    Protein Accession:
    Q15436
    Secondary Accessions:
    • B2R5P4
    • B3KXI2
    • Q8NE16

    Protein attributes for SEC23A Gene

    Size:
    765 amino acids
    Molecular mass:
    86161 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (PubMed:17499046). Interacts with SEC23IP. Interacts with HTR4 (By similarity). Interacts with SEC16A (PubMed:17192411). Interacts with SLC6A4 (By similarity). Interacts (as part of the Sec23/24 complex) with SEC22B; recruits SEC22B into COPII-coated vesicles and allows the transport of this cargo from the endoplasmic reticulum to the Golgi (PubMed:17499046). Interacts (via Gelsolin-like repeat) with MIA2 and MIA3; specifically involved in the transport of large cargos like the collagen COL7A1 (PubMed:27551091, PubMed:28442536). Interacts with DDHD1 (By similarity). Interacts with TMEM39A (PubMed:31806350). Interacts with SACM1L; this interaction is reduced in the absence of TMEM39A (PubMed:31806350).

    Three dimensional structures from OCA and Proteopedia for SEC23A Gene

    Alternative splice isoforms for SEC23A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC23A Gene

Post-translational modifications for SEC23A Gene

  • Ubiquitination at Lys46 and Lys669
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC23A Gene

Domains & Families for SEC23A Gene

Gene Families for SEC23A Gene

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

Protein Domains for SEC23A Gene

Suggested Antigen Peptide Sequences for SEC23A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45429 fis, clone BRHIP3039057, highly similar to Protein transport protein Sec23A (B3KXI2_HUMAN)
  • SEC23-related protein A (SC23A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15436

UniProtKB/Swiss-Prot:

SC23A_HUMAN :
  • The Gelsolin-like repeat mediates interaction with proteins containing PPP motifs that include MIA2, MIA3 but also SEC31A. These interactions are probably competitive.
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
Domain:
  • The Gelsolin-like repeat mediates interaction with proteins containing PPP motifs that include MIA2, MIA3 but also SEC31A. These interactions are probably competitive.
Family:
  • Belongs to the SEC23/SEC24 family. SEC23 subfamily.
genes like me logo Genes that share domains with SEC23A: view

Function for SEC23A Gene

Molecular function for SEC23A 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. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity).

Phenotypes From GWAS Catalog for SEC23A Gene

Gene Ontology (GO) - Molecular Function for SEC23A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 10075675
GO:0008270 zinc ion binding IEA,IDA 18843296
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC23A: view
genes like me logo Genes that share phenotypes with SEC23A: view

Human Phenotype Ontology for SEC23A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC23A Gene

MGI Knock Outs for SEC23A:
  • Sec23a Sec23a<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC23A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEC23A Gene

Localization for SEC23A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC23A Gene

Cytoplasmic vesicle, COPII-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Endoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, cytosol. Note=Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER). {ECO:0000269 PubMed:28442536, ECO:0000269 PubMed:8898360}.

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 SEC23A gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 3
golgi apparatus 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC23A 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 IEA,TAS --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with SEC23A: view

Pathways & Interactions for SEC23A Gene

genes like me logo Genes that share pathways with SEC23A: view

Pathways by source for SEC23A Gene

4 GeneGo (Thomson Reuters) pathways for SEC23A 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 SEC23A Gene
  • SREBP Proteolysis
1 Cell Signaling Technology pathway for SEC23A Gene

Gene Ontology (GO) - Biological Process for SEC23A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA,TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with SEC23A: view

No data available for SIGNOR curated interactions for SEC23A Gene

Drugs & Compounds for SEC23A Gene

No Compound Related Data Available

Transcripts for SEC23A Gene

mRNA/cDNA for SEC23A Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 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 SEC23A

Alternative Splicing Database (ASD) splice patterns (SP) for SEC23A Gene

No ASD Table

Relevant External Links for SEC23A Gene

GeneLoc Exon Structure for
SEC23A

Expression for SEC23A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC23A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC23A Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC23A Gene



Protein tissue co-expression partners for SEC23A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC23A

SOURCE GeneReport for Unigene cluster for SEC23A Gene:

Hs.272927

mRNA Expression by UniProt/SwissProt for SEC23A Gene:

Q15436-SC23A_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SEC23A Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Heart(2.5)
  • Kidney(2.1)
  • Blood(2.1)
  • Intestine(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC23A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SEC23A: view

Primer products for research

No data available for mRNA differential expression in normal tissues for SEC23A Gene

Orthologs for SEC23A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC23A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC23A 29 30
  • 99.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEC23A 30
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 97 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SEC23A 29 30
  • 95.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC23A 29 30
  • 94.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec23a 29
  • 91.29 (n)
Mouse
(Mus musculus)
Mammalia Sec23a 29 16 30
  • 91.24 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SEC23A 29 30
  • 83.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC23A 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sec23a 29
  • 79.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii sec23a 29 30
  • 76.3 (n)
OneToOne
wufc10f08 29
Fruit Fly
(Drosophila melanogaster)
Insecta sec23 29 30 31
  • 65.04 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001759 29
  • 63.13 (n)
Worm
(Caenorhabditis elegans)
Secernentea sec-23 29 30 31
  • 59.49 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04885g 29
  • 54.51 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC23 29 30 32
  • 53.66 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL272W 29
  • 53.44 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G21630 29
  • 53.6 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0474700 29
  • 53.46 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.12907 29
Corn
(Zea mays)
Liliopsida Zm.7720 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1036 30
  • 74 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec231 29
  • 58.14 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01318 29
  • 56.66 (n)
Species where no ortholog for SEC23A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC23A Gene

ENSEMBL:
Gene Tree for SEC23A (if available)
TreeFam:
Gene Tree for SEC23A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC23A: view image
Alliance of Genome Resources:
Additional Orthologs for SEC23A

Paralogs for SEC23A Gene

Paralogs for SEC23A Gene

(1) SIMAP similar genes for SEC23A Gene using alignment to 12 proteins:

  • SC23A_HUMAN
  • B3KXI2_HUMAN
  • F5H365_HUMAN
  • F5H6C4_HUMAN
  • G3V1W4_HUMAN
  • G3V2R6_HUMAN
  • G3V3G5_HUMAN
  • G3V4Q2_HUMAN
  • G3V4V1_HUMAN
  • G3V5K1_HUMAN
  • G3V5X8_HUMAN
  • L8ECD0_HUMAN
genes like me logo Genes that share paralogs with SEC23A: view

Variants for SEC23A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC23A Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1012118 Uncertain Significance: Craniolenticulosutural dysplasia 39,064,927(-) A/G
NM_006364.4(SEC23A):c.1294T>C (p.Cys432Arg)
MISSENSE
1024104 Uncertain Significance: Craniolenticulosutural dysplasia 39,086,981(-) G/T
NM_006364.4(SEC23A):c.631C>A (p.Leu211Ile)
MISSENSE
1033096 Uncertain Significance: Craniolenticulosutural dysplasia 39,067,277(-) C/A
NM_006364.4(SEC23A):c.1123G>T (p.Asp375Tyr)
MISSENSE
1033097 Pathogenic: Craniolenticulosutural dysplasia 39,091,560(-) G/A
NM_006364.4(SEC23A):c.520C>T (p.Gln174Ter)
NONSENSE
1035662 Uncertain Significance: Craniolenticulosutural dysplasia 39,091,602(-) G/A
NM_006364.4(SEC23A):c.478C>T (p.Pro160Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC23A 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 SEC23A Gene

Variant ID Type Subtype PubMed ID
dgv1236e59 CNV tandem duplication 20981092
esv1683314 CNV deletion 17803354
esv3322978 CNV duplication 20981092
esv3634138 CNV loss 21293372
esv8908 CNV gain 19470904
esv997844 CNV insertion 20482838
nsv1038622 CNV gain 25217958
nsv1078205 CNV insertion 25765185
nsv1116742 CNV tandem duplication 24896259
nsv1142844 CNV tandem duplication 24896259
nsv1149942 CNV insertion 26484159
nsv564417 CNV gain 21841781
nsv85182 CNV insertion 16902084
nsv85230 CNV deletion 16902084
nsv85298 CNV insertion 16902084

Variation tolerance for SEC23A Gene

Residual Variation Intolerance Score: 8.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC23A Gene

Human Gene Mutation Database (HGMD)
SEC23A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC23A
Leiden Open Variation Database (LOVD)
SEC23A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC23A Gene

Disorders for SEC23A Gene

MalaCards: The human disease database

(8) MalaCards diseases for SEC23A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC23A_HUMAN
  • Craniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269 PubMed:16980979}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SEC23A

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 SEC23A: view

No data available for Genatlas for SEC23A Gene

Publications for SEC23A Gene

  1. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. (PMID: 16980979) Boyadjiev SA … Eyaid W (Nature genetics 2006) 3 4 72
  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
  3. The ER-Localized Transmembrane Protein TMEM39A/SUSR2 Regulates Autophagy by Controlling the Trafficking of the PtdIns(4)P Phosphatase SAC1. (PMID: 31806350) Miao G … Zhang H (Molecular cell 2020) 3 4
  4. TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion. (PMID: 28442536) Maeda M … Saito K (The Journal of cell biology 2017) 3 4
  5. TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats. (PMID: 27551091) Ma W … Goldberg J (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4

Products for SEC23A Gene

Sources for SEC23A Gene