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Aliases for SEC24C Gene

Aliases for SEC24C Gene

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

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 Velocardiofacial Syndrome. Among its related pathways are Protein processing in endoplasmic reticulum and Metabolism. An important paralog of this gene is SEC24D.

UniProtKB/Swiss-Prot 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

Additional gene information for SEC24C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC24C Gene

Genomics for SEC24C Gene

Regulatory Elements for SEC24C Gene

Enhancers for SEC24C 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
GH10H073964 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 31.4 +222.9 222919 6 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 GTF3C2 GLIS2 ATF7 FOS SP3 SEC24C GLUD1P3 ENSG00000272140 DUSP8P5 BMS1P4 AP3M1 ENSG00000242288 ECD ZSWIM8 RPL17P50
GH10H073584 1.6 Ensembl ENCODE dbSUPER 26.8 -157.9 -157941 2 PKNOX1 FOXA2 ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF766 CBX5 FOS ENSG00000272140 AGAP5 GLUD1P3 SEC24C NUDT13 DUSP8P5 ZSWIM8 BMS1P4 ZSWIM8-AS1 ENSG00000242288
GH10H073930 1.2 Ensembl ENCODE 34.1 +186.5 186527 1 HDGF PKNOX1 ATF1 ARNT TCF12 ATF7 CAVIN1 REST ZNF592 SNIP1 GLUD1P3 ECD ENSG00000272140 AGAP5 DUSP8P5 SEC24C ZSWIM8 KAT6B AP3M1 BMS1P4
GH10H073624 1.4 ENCODE dbSUPER 28.2 -118.4 -118404 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 NDST2 SEC24C ZSWIM8 NUDT13 AP3M1 ENSG00000272140 GLUD1P3 ECD DUSP8P5 CFAP70
GH10H073809 1.3 ENCODE dbSUPER 30.3 +66.7 66737 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 SP3 SP5 ECD ZSWIM8 DUSP8P5 NDST2 SEC24C FUT11 ENSG00000272140 GLUD1P3 ENSG00000242288 CAMK2G
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC24C on UCSC Golden Path with GeneCards custom track

Promoters for SEC24C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029856 319 2001 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for SEC24C Gene

Chromosome:
10
Start:
73,744,281 bp from pter
End:
73,772,175 bp from pter
Size:
27,895 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).
    SequenceCaution:
    • Sequence=BAA07558.2; Type=Frameshift; Positions=1041; 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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SEC24C Gene

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

GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member C
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).

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:0003674 molecular_function ND --
GO:0005515 protein binding IPI 10075675
GO:0008270 zinc ion binding IDA 18843296
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SEC24C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
endoplasmic reticulum 5
cytosol 5
golgi apparatus 3
nucleus 2

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:0005794 Golgi apparatus IEA --
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

Gene Ontology (GO) - Biological Process for SEC24C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
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

Unigene Clusters for SEC24C Gene

SEC24 family, member C (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SEC24C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
SEC24C

Expression for SEC24C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SEC24C Gene



Protein tissue co-expression partners for SEC24C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC24C Gene:

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

  • Bone marrow(4.3)
  • Liver(4.3)
  • Muscle(4.2)
  • Nervous system(3.3)
  • Intestine(3)
genes like me logo Genes that share expression patterns with SEC24C: view

Primer Products

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 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia SEC24C 33 34
  • 93.21 (n)
cow
(Bos Taurus)
Mammalia SEC24C 33 34
  • 92.58 (n)
mouse
(Mus musculus)
Mammalia Sec24c 33 16 34
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Sec24c 33
  • 89.24 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC24C 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC24C 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC24C 33 34
  • 71.47 (n)
lizard
(Anolis carolinensis)
Reptilia SEC24C 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1750 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3433 33
zebrafish
(Danio rerio)
Actinopterygii sec24c 33 34
  • 67.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta gho 33 34
  • 53.64 (n)
CG10882 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea sec-24.1 35 33 34
  • 48.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFB3 33 36
  • 42.94 (n)
SFB2 34
  • 25 (a)
ManyToMany
SEC24 34
  • 24 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR151W 33
  • 42.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22110g 33
  • 40.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9094 34
  • 58 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06868 33
  • 48.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC4.03c 33
  • 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 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)

Paralogs for SEC24C Gene

Paralogs for SEC24C Gene

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

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

Variants for SEC24C Gene

Sequence variations from dbSNP and Humsavar for SEC24C Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000008222 -- 73,754,347(+) GAGGC(A/C)GAGGT intron-variant
rs1000017471 -- 73,747,698(+) CTTGT(C/T)GCCCA intron-variant
rs1000107083 -- 73,747,760(+) GTTCA(A/C)GTGAT intron-variant
rs1000419803 -- 73,768,682(+) TCATC(A/G)TTATC intron-variant
rs1000443101 -- 73,754,006(+) AGTGT(A/G)TTTTA intron-variant

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)

Relevant External Links 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

(1) MalaCards diseases for SEC24C Gene - From: Orphanet

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEC24C

Genetic Association Database (GAD)
SEC24C
Human Genome Epidemiology (HuGE) Navigator
SEC24C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC24C
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 60
  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 60
  3. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C … Hauri HP (Journal of cell science 2010) 3 4 60
  4. 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 60
  5. The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope. (PMID: 17499046) Mancias JD … Goldberg J (Molecular cell 2007) 3 4 60

Products for SEC24C Gene

Sources for SEC24C Gene

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