The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selectio... See more...

Aliases for SEC24C Gene

Aliases for SEC24C Gene

  • SEC24 Homolog C, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec24C 3 4
  • SEC24-Related Protein C 3 4
  • KIAA0079 2 4
  • SEC24 (S. Cerevisiae) Related Gene Family, Member C 2
  • SEC24 Family, Member C (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member C 3
  • SEC24 Family, Member C 3
  • SEC24 Family Member C 2
  • SEC24C 5

External Ids for SEC24C Gene

Previous GeneCards Identifiers for SEC24C Gene

  • GC10P074282
  • GC10P074607
  • GC10P075396
  • GC10P074848
  • GC10P075174
  • GC10P075504
  • GC10P069499

Summaries for SEC24C Gene

Entrez Gene Summary for SEC24C Gene

  • The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEC24C Gene

SEC24C (SEC24 Homolog C, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24C include Digeorge Syndrome and Craniolenticulosutural Dysplasia. Among its related pathways are Pathogenic Escherichia coli infection and Transport to the Golgi and subsequent modification.

UniProtKB/Swiss-Prot Summary for SEC24C 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 (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).

Gene Wiki entry for SEC24C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC24C Gene

Genomics for SEC24C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC24C 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 SEC24C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC24C

Top Transcription factor binding sites by QIAGEN in the SEC24C gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • En-1
  • MyoD
  • NF-Y
  • NF-YA
  • NF-YB
  • PPAR-alpha

Genomic Locations for SEC24C Gene

Genomic Locations for SEC24C Gene
chr10:73,744,164-73,772,167
(GRCh38/hg38)
Size:
28,004 bases
Orientation:
Plus strand
chr10:75,504,120-75,531,933
(GRCh37/hg19)
Size:
27,814 bases
Orientation:
Plus strand

Genomic View for SEC24C Gene

Genes around SEC24C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC24C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC24C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC24C Gene

Proteins for SEC24C Gene

  • Protein details for SEC24C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53992-SC24C_HUMAN
    Recommended name:
    Protein transport protein Sec24C
    Protein Accession:
    P53992
    Secondary Accessions:
    • B4DZT4
    • Q8WV25

    Protein attributes for SEC24C Gene

    Size:
    1094 amino acids
    Molecular mass:
    118325 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (PubMed:10214955, PubMed:10075675, PubMed:17499046). Interacts with TMED2 and TMED10 (PubMed:20427317). Interacts with GOSR2 (via IxM motif) and STX5 (via IxM motif); recruits GOSR2 and STX5 into COPII-coated vesicles (PubMed:18843296). Interacts with DDHD1 (PubMed:17428803). Interacts with STING1; promoting STING1 translocation to the COPII vesicles (PubMed:30842662).
    SequenceCaution:
    • Sequence=BAA07558.2; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC24C Gene

    Alternative splice isoforms for SEC24C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC24C Gene

Post-translational modifications for SEC24C Gene

  • Ubiquitination at Lys853
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC24C Gene

Domains & Families for SEC24C Gene

Gene Families for SEC24C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEC24C Gene

Suggested Antigen Peptide Sequences for SEC24C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60379, highly similar to Protein transport protein Sec24C (B4DZT4_HUMAN)
  • SEC24-related protein C (SC24C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53992

UniProtKB/Swiss-Prot:

SC24C_HUMAN :
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
Family:
  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
genes like me logo Genes that share domains with SEC24C: view

Function for SEC24C Gene

Molecular function for SEC24C 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 (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:20427317, PubMed:18843296). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296).
GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member C

Phenotypes From GWAS Catalog for SEC24C Gene

Gene Ontology (GO) - Molecular Function for SEC24C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IPI 18843296
GO:0005515 protein binding IPI 10075675
GO:0008270 zinc ion binding IDA 18843296
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SEC24C: view
genes like me logo Genes that share phenotypes with SEC24C: view

Human Phenotype Ontology for SEC24C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC24C Gene

MGI Knock Outs for SEC24C:
  • Sec24c Sec24c<tm1d(EUCOMM)Wtsi>
  • Sec24c Sec24c<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24C

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SEC24C Gene

Localization for SEC24C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC24C 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 SEC24C gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
nucleus 3
golgi apparatus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEC24C 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 TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC24C: view

Pathways & Interactions for SEC24C Gene

genes like me logo Genes that share pathways with SEC24C: view

Pathways by source for SEC24C Gene

4 GeneGo (Thomson Reuters) pathways for SEC24C 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 SEC24C Gene
  • SREBP Proteolysis
1 Cell Signaling Technology pathway for SEC24C Gene

Gene Ontology (GO) - Biological Process for SEC24C 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 TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with SEC24C: view

No data available for SIGNOR curated interactions for SEC24C Gene

Drugs & Compounds for SEC24C Gene

No Compound Related Data Available

Transcripts for SEC24C Gene

mRNA/cDNA for SEC24C Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC24C

Alternative Splicing Database (ASD) splice patterns (SP) for SEC24C Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - - - - - - - - - - - - - - - - - - -
SP5:
SP6: -
SP7:
SP8: - - -
SP9: - -
SP10:
SP11: - - - -
SP12:

ExUns: 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SEC24C Gene

GeneLoc Exon Structure for
SEC24C

Expression for SEC24C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC24C Gene

Protein differential expression in normal tissues from HIPED for SEC24C Gene

This gene is overexpressed in Lymph node (7.0) and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC24C Gene



Protein tissue co-expression partners for SEC24C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC24C

SOURCE GeneReport for Unigene cluster for SEC24C Gene:

Hs.81964

mRNA Expression by UniProt/SwissProt for SEC24C Gene:

P53992-SC24C_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SEC24C Gene

  • Liver(4.4)
  • Muscle(4.4)
  • Bone marrow(4.3)
  • Nervous system(3.8)
  • Intestine(3.3)
  • Kidney(2.5)
  • Skin(2.4)
  • Lung(2.3)
  • Blood(2.2)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with SEC24C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC24C Gene

Orthologs for SEC24C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC24C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEC24C 30 31
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC24C 30 31
  • 93.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC24C 30 31
  • 92.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec24c 30 17 31
  • 89.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec24c 30
  • 89.24 (n)
Oppossum
(Monodelphis domestica)
Mammalia SEC24C 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC24C 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEC24C 30 31
  • 71.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEC24C 31
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3433 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.1750 30
Zebrafish
(Danio rerio)
Actinopterygii sec24c 30 31
  • 67.19 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta gho 30 31
  • 53.64 (n)
OneToMany
CG10882 32
  • 52 (a)
Worm
(Caenorhabditis elegans)
Secernentea sec-24.1 30 31 32
  • 48.57 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFB3 30 33 33
  • 42.94 (n)
SFB2 31
  • 25 (a)
ManyToMany
SEC24 31
  • 24 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR151W 30
  • 42.16 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22110g 30
  • 40.16 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9094 31
  • 58 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06868 30
  • 48.3 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC4.03c 30
  • 43.15 (n)
Species where no ortholog for SEC24C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEC24C Gene

ENSEMBL:
Gene Tree for SEC24C (if available)
TreeFam:
Gene Tree for SEC24C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC24C: view image

Paralogs for SEC24C Gene

(3) SIMAP similar genes for SEC24C Gene using alignment to 5 proteins:

  • SC24C_HUMAN
  • B4DZT4_HUMAN
  • E7EP00_HUMAN
  • F6RFB3_HUMAN
  • G5EA31_HUMAN
genes like me logo Genes that share paralogs with SEC24C: view

No data available for Paralogs for SEC24C Gene

Variants for SEC24C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC24C Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
715777 Benign: not provided 73,770,951(+) G/A INTRON_VARIANT
718500 Benign: not provided 73,760,299(+) C/G MISSENSE_VARIANT
720672 Benign: not provided 73,766,753(+) T/C INTRON_VARIANT
750577 Likely Benign: not provided 73,770,291(+) C/T SYNONYMOUS_VARIANT
771741 Benign: not provided 73,760,307(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SEC24C Gene

Structural Variations from Database of Genomic Variants (DGV) for SEC24C Gene

Variant ID Type Subtype PubMed ID
nsv1035634 CNV gain 25217958
nsv551516 CNV loss 21841781
nsv825468 CNV gain 20364138
nsv831912 CNV gain 17160897

Variation tolerance for SEC24C Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC24C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC24C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC24C Gene

Disorders for SEC24C Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEC24C Gene - From: Orphanet and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC24C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SEC24C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC24C Gene

Publications for SEC24C Gene

  1. Hypothetical protein KIAA0079 is a mammalian homologue of yeast Sec24p. (PMID: 10214955) Tani K … Tagaya M (FEBS letters 1999) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
  3. Autophagy induction via STING trafficking is a primordial function of the cGAS pathway. (PMID: 30842662) Gui X … Chen ZJ (Nature 2019) 3 4
  4. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C … Hauri HP (Journal of cell science 2010) 3 4
  5. Structural basis of cargo membrane protein discrimination by the human COPII coat machinery. (PMID: 18843296) Mancias JD … Goldberg J (The EMBO journal 2008) 3 4

Products for SEC24C Gene

Sources for SEC24C Gene