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Aliases for SEC24D Gene

Aliases for SEC24D Gene

  • SEC24 Homolog D, COPII Coat Complex Component 2 3
  • SEC24-Related Protein D 3 4
  • SEC24 Family Member D 2 3
  • SEC24 (S. Cerevisiae) Related Gene Family, Member D 2
  • SEC24 Family, Member D (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member D 3
  • KIAA0755 4
  • CLCRP2 3

External Ids for SEC24D Gene

Previous GeneCards Identifiers for SEC24D Gene

  • GC04M120402
  • GC04M119924
  • GC04M120037
  • GC04M120102
  • GC04M120001
  • GC04M119643
  • GC04M115365

Summaries for SEC24D Gene

Entrez Gene Summary for SEC24D 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. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEC24D Gene

SEC24D (SEC24 Homolog D, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24D include cole-carpenter syndrome 2 and cole carpenter syndrome. Among its related pathways are Immune System and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEC24B.

UniProtKB/Swiss-Prot for SEC24D 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 SEC24D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC24D Gene

Genomics for SEC24D Gene

Regulatory Elements for SEC24D Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SEC24D Gene

Chromosome:
4
Start:
118,722,823 bp from pter
End:
118,838,683 bp from pter
Size:
115,861 bases
Orientation:
Minus strand

Genomic View for SEC24D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEC24D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC24D Gene

Proteins for SEC24D Gene

  • Protein details for SEC24D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94855-SC24D_HUMAN
    Recommended name:
    Protein transport protein Sec24D
    Protein Accession:
    O94855
    Secondary Accessions:
    • Q8IYI7

    Protein attributes for SEC24D Gene

    Size:
    1032 amino acids
    Molecular mass:
    113010 Da
    Quaternary structure:
    • COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. Interacts with TMED2 and TMED10. Interacts with CNIH4 (PubMed:24405750).
    SequenceCaution:
    • Sequence=BAA34475.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC24D Gene

    Alternative splice isoforms for SEC24D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC24D Gene

Proteomics data for SEC24D Gene at MOPED

Post-translational modifications for SEC24D Gene

  • Ubiquitination at Lys 795
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC24D Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SEC24D (SEC24D)

No data available for DME Specific Peptides for SEC24D Gene

Domains & Families for SEC24D Gene

Graphical View of Domain Structure for InterPro Entry

O94855

UniProtKB/Swiss-Prot:

SC24D_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 SEC24D: view

No data available for Gene Families for SEC24D Gene

Function for SEC24D Gene

Molecular function for SEC24D Gene

GENATLAS Biochemistry:
SEC24 (S. cerevisiae) related gene family, member D
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 SEC24D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with SEC24D: view
genes like me logo Genes that share phenotypes with SEC24D: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEC24D

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC24D Gene

Localization for SEC24D Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC24D Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEC24D Gene COMPARTMENTS Subcellular localization image for SEC24D gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 4
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for SEC24D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:0030127 COPII vesicle coat NAS 10329445
genes like me logo Genes that share ontologies with SEC24D: view

Pathways & Interactions for SEC24D Gene

genes like me logo Genes that share pathways with SEC24D: view

Pathways by source for SEC24D Gene

1 Qiagen pathway for SEC24D Gene
1 Cell Signaling Technology pathway for SEC24D Gene
1 BioSystems pathway for SEC24D Gene

Gene Ontology (GO) - Biological Process for SEC24D 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:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
genes like me logo Genes that share ontologies with SEC24D: view

No data available for SIGNOR curated interactions for SEC24D Gene

Drugs & Compounds for SEC24D Gene

No Compound Related Data Available

Transcripts for SEC24D Gene

Unigene Clusters for SEC24D Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEC24D

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC24D Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for SEC24D Gene

GeneLoc Exon Structure for
SEC24D
ECgene alternative splicing isoforms for
SEC24D

Expression for SEC24D Gene

mRNA expression in normal human tissues for SEC24D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC24D Gene

This gene is overexpressed in Bone marrow stromal cell (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEC24D Gene



SOURCE GeneReport for Unigene cluster for SEC24D Gene Hs.189641

mRNA Expression by UniProt/SwissProt for SEC24D Gene

O94855-SC24D_HUMAN
Tissue specificity: Ubiquitously expressed, with higher amounts in placenta, pancreas, heart and liver
genes like me logo Genes that share expression patterns with SEC24D: view

Protein tissue co-expression partners for SEC24D Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SEC24D Gene

Orthologs for SEC24D Gene

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

Orthologs for SEC24D Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEC24D 35
  • 87.14 (n)
  • 91.76 (a)
SEC24D 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEC24D 35
  • 90.36 (n)
  • 92.5 (a)
SEC24D 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sec24d 35
  • 83.72 (n)
  • 88.35 (a)
Sec24d 16
Sec24d 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEC24D 35
  • 97.47 (n)
  • 97.37 (a)
rat
(Rattus norvegicus)
Mammalia Sec24d 35
  • 83.56 (n)
  • 88.18 (a)
oppossum
(Monodelphis domestica)
Mammalia SEC24D 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEC24D 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEC24D 35
  • 74.63 (n)
  • 78.1 (a)
SEC24D 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEC24D 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec24d 35
  • 69.61 (n)
  • 69.74 (a)
zebrafish
(Danio rerio)
Actinopterygii sec24d 35
  • 66.24 (n)
  • 66.73 (a)
sec24d 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10576 35
fruit fly
(Drosophila melanogaster)
Insecta CG10882 37
  • 48 (a)
gho 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-24.1 37
  • 40 (a)
sec-24.1 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC24 36
  • 23 (a)
ManyToMany
SFB2 36
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9094 36
  • 52 (a)
OneToMany
Species with no ortholog for SEC24D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SEC24D Gene

ENSEMBL:
Gene Tree for SEC24D (if available)
TreeFam:
Gene Tree for SEC24D (if available)

Paralogs for SEC24D Gene

Paralogs for SEC24D Gene

(3) SIMAP similar genes for SEC24D Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with SEC24D: view

Variants for SEC24D Gene

Sequence variations from dbSNP and Humsavar for SEC24D Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_047472 -
VAR_047473 -
VAR_047474 -
VAR_073658 Cole-Carpenter syndrome 2 (CLCRP2)
VAR_073659 Cole-Carpenter syndrome 2 (CLCRP2)

Structural Variations from Database of Genomic Variants (DGV) for SEC24D Gene

Variant ID Type Subtype PubMed ID
dgv1668e1 CNV Complex 17122850
nsv519017 CNV Loss 19592680
essv11621 CNV CNV 17122850
nsv516777 CNV Gain 19592680

Variation tolerance for SEC24D Gene

Residual Variation Intolerance Score: 68.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEC24D Gene

HapMap Linkage Disequilibrium report
SEC24D
Human Gene Mutation Database (HGMD)
SEC24D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC24D Gene

Disorders for SEC24D Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEC24D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cole-carpenter syndrome 2
  • clcrp2
cole carpenter syndrome
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
carpenter syndrome 2
  • crpt2
carpenter syndrome
  • acrocephalopolysyndactyly type ii
osteogenesis imperfecta
  • lobstein's syndrome
- elite association

UniProtKB/Swiss-Prot

SC24D_HUMAN
  • Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294]: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive. {ECO:0000269 PubMed:25683121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SEC24D

Genetic Association Database (GAD)
SEC24D
Human Genome Epidemiology (HuGE) Navigator
SEC24D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC24D
genes like me logo Genes that share disorders with SEC24D: view

No data available for Genatlas for SEC24D Gene

Publications for SEC24D Gene

  1. Selective export of human GPI-anchored proteins from the endoplasmic reticulum. (PMID: 20427317) Bonnon C. … Hauri H.P. (J. Cell Sci. 2010) 23 67
  2. Sec24 proteins and sorting at the endoplasmic reticulum. (PMID: 10075675) Pagano A. … Paccaud J.-P. (J. Biol. Chem. 1999) 2 67
  3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 67
  4. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. (PMID: 25683121) Garbes L. … Netzer C. (Am. J. Hum. Genet. 2015) 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for SEC24D Gene

Sources for SEC24D Gene

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