This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011] See more...

Aliases for COG3 Gene

Aliases for COG3 Gene

  • Component Of Oligomeric Golgi Complex 3 2 3 4 5
  • Conserved Oligomeric Golgi Complex Subunit 3 3 4
  • Vesicle-Docking Protein SEC34 Homolog 3 4
  • COG Complex Subunit 3 3 4
  • SEC34 3 4
  • P94 3 4
  • Tethering Factor SEC34 3

External Ids for COG3 Gene

Previous GeneCards Identifiers for COG3 Gene

  • GC13P044039
  • GC13P040026
  • GC13P044975
  • GC13P043837
  • GC13P044937
  • GC13P046039
  • GC13P026835

Summaries for COG3 Gene

Entrez Gene Summary for COG3 Gene

  • This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]

GeneCards Summary for COG3 Gene

COG3 (Component Of Oligomeric Golgi Complex 3) is a Protein Coding gene. Diseases associated with COG3 include Cone-Rod Dystrophy, X-Linked, 1 and Cone-Rod Dystrophy, X-Linked, 2. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include protein transporter activity.

UniProtKB/Swiss-Prot Summary for COG3 Gene

Gene Wiki entry for COG3 Gene

Additional gene information for COG3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COG3 Gene

Genomics for COG3 Gene

GeneHancer (GH) Regulatory Elements for COG3 Gene

Promoters and enhancers for COG3 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 COG3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COG3

Top Transcription factor binding sites by QIAGEN in the COG3 gene promoter:
  • c-Rel
  • GCNF
  • GCNF-1
  • GCNF-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a

Genomic Locations for COG3 Gene

Genomic Locations for COG3 Gene
chr13:45,464,895-45,536,701
(GRCh38/hg38)
Size:
71,807 bases
Orientation:
Plus strand
chr13:46,039,030-46,110,833
(GRCh37/hg19)
Size:
71,804 bases
Orientation:
Plus strand

Genomic View for COG3 Gene

Genes around COG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG3 Gene

Proteins for COG3 Gene

  • Protein details for COG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JB2-COG3_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 3
    Protein Accession:
    Q96JB2
    Secondary Accessions:
    • B2RAW5
    • Q5VT70
    • Q8IXX4
    • Q9BZ92

    Protein attributes for COG3 Gene

    Size:
    828 amino acids
    Molecular mass:
    94096 Da
    Quaternary structure:
    • Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Interacts with TMEM115.

    Alternative splice isoforms for COG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG3 Gene

Post-translational modifications for COG3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COG3 Gene

No data available for DME Specific Peptides for COG3 Gene

Domains & Families for COG3 Gene

Gene Families for COG3 Gene

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

Protein Domains for COG3 Gene

Blocks:
  • Sec34-like protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG3 Gene

GenScript: Design optimal peptide antigens:
  • p94 (COG3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JB2

UniProtKB/Swiss-Prot:

COG3_HUMAN :
  • Belongs to the COG3 family.
Family:
  • Belongs to the COG3 family.
genes like me logo Genes that share domains with COG3: view

Function for COG3 Gene

Molecular function for COG3 Gene

UniProtKB/Swiss-Prot Function:
Involved in ER-Golgi transport.

Phenotypes From GWAS Catalog for COG3 Gene

Gene Ontology (GO) - Molecular Function for COG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19536132
genes like me logo Genes that share ontologies with COG3: view
genes like me logo Genes that share phenotypes with COG3: view

Animal Models for COG3 Gene

MGI Knock Outs for COG3:
  • Cog3 Cog3<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for COG3 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COG3 Gene

Localization for COG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG3 Gene

Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Note=Associated with the peripheral membrane of cis/medial cisternae.

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 COG3 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
endosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 11980916
GO:0005801 cis-Golgi network IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with COG3: view

Pathways & Interactions for COG3 Gene

genes like me logo Genes that share pathways with COG3: view

Gene Ontology (GO) - Biological Process for COG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IMP 16420527
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IMP 16420527
GO:0006891 intra-Golgi vesicle-mediated transport IBA,IDA 11929878
genes like me logo Genes that share ontologies with COG3: view

No data available for SIGNOR curated interactions for COG3 Gene

Drugs & Compounds for COG3 Gene

No Compound Related Data Available

Transcripts for COG3 Gene

mRNA/cDNA for COG3 Gene

2 REFSEQ mRNAs :
16 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 COG3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COG3 Gene

No ASD Table

Relevant External Links for COG3 Gene

GeneLoc Exon Structure for
COG3

Expression for COG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COG3 Gene

Protein differential expression in normal tissues from HIPED for COG3 Gene

This gene is overexpressed in Bone (59.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COG3 Gene



Protein tissue co-expression partners for COG3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COG3

SOURCE GeneReport for Unigene cluster for COG3 Gene:

Hs.507948

mRNA Expression by UniProt/SwissProt for COG3 Gene:

Q96JB2-COG3_HUMAN
Tissue specificity: Widely expressed with highest levels in pancreas and testis and lowest levels in lung.

Evidence on tissue expression from TISSUES for COG3 Gene

  • Nervous system(4.7)
  • Blood(4.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with COG3: 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 COG3 Gene

Orthologs for COG3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG3 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COG3 31 30
  • 93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COG3 31 30
  • 92.07 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG3 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog3 17 31 30
  • 90.04 (n)
rat
(Rattus norvegicus)
Mammalia Cog3 30
  • 89.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG3 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG3 31 30
  • 81.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COG3 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cog3 30
  • 76.92 (n)
Str.1471 30
zebrafish
(Danio rerio)
Actinopterygii cog3 31 31 30
  • 70.93 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003970 30
  • 51.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cog3 31 30
  • 51.07 (n)
OneToOne
CG3248 32
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea cogc-3 31 30
  • 48.33 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG3 33 31
  • 20 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G73430 30
  • 48.57 (n)
rice
(Oryza sativa)
Liliopsida Os08g0451000 30
  • 48.57 (n)
Os.24582 30
sea squirt
(Ciona savignyi)
Ascidiacea Cin.12103 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12103 30
Species where no ortholog for COG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COG3 Gene

ENSEMBL:
Gene Tree for COG3 (if available)
TreeFam:
Gene Tree for COG3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COG3: view image

Paralogs for COG3 Gene

No data available for Paralogs for COG3 Gene

Variants for COG3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COG3 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs747042102 A breast cancer sample p.Arg620Cys
rs2274285 - p.Asn747Ser

Additional dbSNP identifiers (rs#s) for COG3 Gene

Structural Variations from Database of Genomic Variants (DGV) for COG3 Gene

Variant ID Type Subtype PubMed ID
dgv223e201 CNV deletion 23290073
esv1140090 CNV deletion 17803354
esv1166784 CNV deletion 17803354
esv3307655 CNV mobile element insertion 20981092
esv3343614 CNV insertion 20981092
nsv1145662 CNV deletion 24896259
nsv455875 CNV loss 19166990
nsv510583 CNV deletion 20534489
nsv561578 CNV loss 21841781

Variation tolerance for COG3 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COG3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG3 Gene

Disorders for COG3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for COG3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search COG3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COG3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COG3 Gene

Publications for COG3 Gene

  1. TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport. (PMID: 24806965) Ong YS … Hong W (Journal of cell science 2014) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 54
  4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K … Vandekerckhove J (Nature biotechnology 2003) 3 4 54
  5. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D … Waters MG (The Journal of cell biology 2002) 2 3 54

Products for COG3 Gene

Sources for COG3 Gene