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Aliases for SEC24D Gene

Aliases for SEC24D Gene

  • SEC24 Homolog D, COPII Coat Complex Component 2 3 5
  • SEC24-Related Protein D 3 4
  • SEC24 (S. Cerevisiae) Related Gene Family, Member D 2
  • SEC24 Family, Member D (S. Cerevisiae) 2
  • SEC24 Related Gene Family, Member D 3
  • Protein Transport Protein Sec24D 3
  • SEC24 Family Member D 2
  • 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. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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 Transport to the Golgi and subsequent modification and Innate Immune System. An important paralog of this gene is SEC24C.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC24D Gene

Genomics for SEC24D Gene

Regulatory Elements for SEC24D Gene

Enhancers for SEC24D 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
GH04G118765 1.3 Ensembl ENCODE dbSUPER 10.9 +73.0 72965 0.7 TAL1 JUN FEZF1 FOSL1 TCF12 GATA2 ZNF366 NCOR1 SCRT2 FOSL2 SEC24D METTL14 CEP170P1 GC04P118778
GH04G118889 1.2 ENCODE dbSUPER 11.6 -50.4 -50392 1.0 HDAC1 TBP ZSCAN4 ZNF76 KLF17 ZNF2 RAD21 ZNF366 KLF7 EGR2 SEC24D LOC105377393 GC04M118904
GH04G118917 1.1 Ensembl ENCODE dbSUPER 11.3 -80.0 -79953 1.5 PRDM6 JUND ZNF547 JUN FOS PRDM1 ATF2 SEC24D GC04M118904 LOC105377393
GH04G118890 1 ENCODE dbSUPER 11.6 -52.0 -51981 1.0 CTCF ZSCAN4 SIN3A ZNF384 CHD7 RAD21 ZNF664 SMC3 EZH2 ZNF654 SEC24D METTL14 LOC105377393 GC04M118904
GH04G118766 1 ENCODE dbSUPER 10.9 +71.6 71558 0.5 TAL1 FOSL1 TCF12 GATA2 NCOR1 EGR1 TRIM24 MTA2 RNF2 DPF2 SEC24D GC04P118778 METTL14
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC24D on UCSC Golden Path with GeneCards custom track

Genomic Location for SEC24D Gene

118,722,823 bp from pter
118,838,683 bp from pter
115,861 bases
Minus strand

Genomic View for SEC24D Gene

Genes around SEC24D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC24D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protein transport protein Sec24D
    Protein Accession:
    Secondary Accessions:
    • Q8IYI7

    Protein attributes for SEC24D Gene

    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).
    • 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


neXtProt entry for SEC24D Gene

Post-translational modifications for SEC24D Gene

  • Ubiquitination at Lys795
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC24D Gene

Domains & Families for SEC24D Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SEC23/SEC24 family. SEC24 subfamily.
  • 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

Human Phenotype Ontology for SEC24D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEC24D Gene

MGI Knock Outs for SEC24D:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 SEC24D gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEC24D 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 SEC24D: view

Pathways & Interactions for SEC24D Gene

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

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:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA,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:

CRISPR Products

Inhibitory RNA Products

Clone 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: - - -

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

Relevant External Links for SEC24D Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SEC24D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SEC24D Gene

Protein tissue co-expression partners for SEC24D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC24D Gene:


SOURCE GeneReport for Unigene cluster for SEC24D Gene:


mRNA Expression by UniProt/SwissProt for SEC24D Gene:

Tissue specificity: Ubiquitously expressed, with higher amounts in placenta, pancreas, heart and liver.

Evidence on tissue expression from TISSUES for SEC24D Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC24D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SEC24D: view

Primer 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
(Pan troglodytes)
Mammalia SEC24D 34
  • 97.47 (n)
(Canis familiaris)
Mammalia SEC24D 34 35
  • 90.36 (n)
(Bos Taurus)
Mammalia SEC24D 34 35
  • 87.14 (n)
(Mus musculus)
Mammalia Sec24d 34 16 35
  • 83.72 (n)
(Rattus norvegicus)
Mammalia Sec24d 34
  • 83.56 (n)
(Monodelphis domestica)
Mammalia SEC24D 35
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia SEC24D 35
  • 75 (a)
(Gallus gallus)
Aves SEC24D 34 35
  • 74.63 (n)
(Anolis carolinensis)
Reptilia SEC24D 35
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sec24d 34
  • 69.61 (n)
(Danio rerio)
Actinopterygii sec24d 34 35
  • 66.24 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10576 34
fruit fly
(Drosophila melanogaster)
Insecta CG10882 36
  • 48 (a)
gho 35
  • 39 (a)
(Caenorhabditis elegans)
Secernentea sec-24.1 36 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFB2 35
  • 24 (a)
SEC24 35
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9094 35
  • 52 (a)
Species where no ortholog for SEC24D was found in the sources mined by GeneCards:
  • 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

Gene Tree for SEC24D (if available)
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
rs760670617 Pathogenic, Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294] 118,723,570(+) CATAA(A/C/G)AAGAG reference, missense
rs786204846 Pathogenic, Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294] 118,728,586(-) TATCC(A/C)ACAAA reference, missense
rs786204845 Pathogenic 118,815,511(-) ATGCC(C/T)AGTAC reference, stop-gained
rs730882211 Likely pathogenic 118,815,132(-) TGGCA(C/G)GCGCA reference, missense
rs10000269 -- 118,771,911(+) AAATG(C/T)CATGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2759279 CNV gain 17122850
esv3601954 CNV loss 21293372
nsv516777 CNV gain 19592680
nsv519017 CNV loss 19592680

Variation tolerance for SEC24D Gene

Residual Variation Intolerance Score: 68.4% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SEC24D Gene

MalaCards: The human disease database

(6) 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
  • cole carpenter syndrome
carpenter syndrome
  • acrocephalopolysyndactyly type ii
carpenter syndrome 2
  • crpt2
brittle cornea syndrome 2
  • brittle cornea syndrome
- elite association - COSMIC cancer census association via MalaCards


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

No data available for Genatlas for SEC24D Gene

Publications for SEC24D Gene

  1. 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 3 4 64
  2. 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) 3 4 64
  3. CNIH4 interacts with newly synthesized GPCR and controls their export from the endoplasmic reticulum. (PMID: 24405750) Sauvageau E. … Bouvier M. (Traffic 2014) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64

Products for SEC24D Gene

Sources for SEC24D Gene

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