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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 Transport to the Golgi and subsequent modification and Innate Immune System. An important paralog of this gene is SEC24D.

UniProtKB/Swiss-Prot for SEC24C Gene

  • Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.

Gene Wiki entry 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
GH10G073809 1.3 ENCODE dbSUPER 12 +66.7 66737 3.5 PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 ECD FUT11 ZSWIM8 CAMK2G ENSG00000272791 ZSWIM8-AS1 CHCHD1 DNAJC9 SEC24C ENSG00000268584
GH10G073784 1.1 ENCODE 12.3 +41.5 41544 2.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 MYOZ1 ENSG00000224195 NDST2 CAMK2G SEC24C ENSG00000229990 C10orf55 FUT11 GC10P073790 GC10P073789
GH10G073905 2 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +166.3 166345 10.8 PKNOX1 CREB3L1 ARNT SIN3A FEZF1 ZNF766 ZNF143 FOS SP3 JUNB KAT6B DNAJC9 CAMK2G ENSG00000229990 VCL FUT11 ENSG00000272791 NDST2 SEC24C CFAP70
GH10G073848 1.2 ENCODE dbSUPER 10.9 +105.1 105114 1.3 HDGF PKNOX1 WRNIP1 ARID4B SIN3A ZNF2 ZNF143 ZNF207 DEK ZNF263 CAMK2G NDST2 ENSG00000224195 SEC24C VCL ENSG00000229990
GH10G073886 2 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +146.7 146729 10.0 HDGF FOXA2 PKNOX1 WRNIP1 SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS NDST2 KAT6B C10orf55 DNAJC9 FUT11 ENSG00000229990 ENSG00000224195 VCL ENSG00000272791 MYOZ1
- 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 MLX CREB3L1 DMAP1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D

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:
    • Interacts with SLC6A4 (By similarity). COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. SEC24C is capable of forming heterodimers with SEC24A. Interacts with TMED2 and TMED10.
    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 isoforms=2853
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC24C Gene

Domains & Families for SEC24C Gene

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

No data available for Gene Families for SEC24C Gene

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 COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.

Gene Ontology (GO) - Molecular Function for SEC24C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 10075675
GO:0008270 zinc 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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for SEC24C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC24C Gene

Cytoplasm. Cytoplasm, perinuclear region. Endoplasmic reticulum membrane. Golgi apparatus membrane.

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

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

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 34 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia SEC24C 34 35
  • 93.21 (n)
cow
(Bos Taurus)
Mammalia SEC24C 34 35
  • 92.58 (n)
mouse
(Mus musculus)
Mammalia Sec24c 34 16 35
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Sec24c 34
  • 89.24 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC24C 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC24C 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC24C 34 35
  • 71.47 (n)
lizard
(Anolis carolinensis)
Reptilia SEC24C 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1750 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3433 34
zebrafish
(Danio rerio)
Actinopterygii sec24c 34 35
  • 67.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta gho 34 35
  • 53.64 (n)
CG10882 36
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea sec-24.1 36 34 35
  • 48.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFB3 34 37
  • 42.94 (n)
SFB2 35
  • 25 (a)
ManyToMany
SEC24 35
  • 24 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR151W 34
  • 42.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22110g 34
  • 40.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9094 35
  • 58 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06868 34
  • 48.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC4.03c 34
  • 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 and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • 22q11 deletion 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 Lett. 1999) 2 3 4 64
  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 Res. 1994) 2 3 4 64
  3. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PMID: 17373700) Morgan A.R. … Williams J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Sec24 proteins and sorting at the endoplasmic reticulum. (PMID: 10075675) Pagano A. … Paccaud J.-P. (J. Biol. Chem. 1999) 3 4 64

Products for SEC24C Gene

Sources for SEC24C Gene

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