This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal gly... See more...

Aliases for COG2 Gene

Aliases for COG2 Gene

  • Component Of Oligomeric Golgi Complex 2 2 3 4 5
  • Low Density Lipoprotein Receptor Defect C-Complementing Protein 3 4
  • Low Density Lipoprotein Receptor Defect C Complementing 2 3
  • Conserved Oligomeric Golgi Complex Subunit 2 3 4
  • COG Complex Subunit 2 3 4
  • LDLC 3 4
  • Brefeldin A-Sensitive, Peripheral Golgi Protein 3
  • Conserved Oligomeric Golgi Complex Protein 2 3
  • CDG2Q 3

External Ids for COG2 Gene

Previous HGNC Symbols for COG2 Gene

  • LDLC

Previous GeneCards Identifiers for COG2 Gene

  • GC01P229255
  • GC01P226506
  • GC01P227251
  • GC01P227813
  • GC01P227084
  • GC01P228844
  • GC01P230778
  • GC01P201264

Summaries for COG2 Gene

Entrez Gene Summary for COG2 Gene

  • This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

GeneCards Summary for COG2 Gene

COG2 (Component Of Oligomeric Golgi Complex 2) is a Protein Coding gene. Diseases associated with COG2 include Congenital Disorder Of Glycosylation, Type Iiq and Lipid Metabolism Disorder. 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 COG2 Gene

Gene Wiki entry for COG2 Gene

Additional gene information for COG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COG2 Gene

Genomics for COG2 Gene

GeneHancer (GH) Regulatory Elements for COG2 Gene

Promoters and enhancers for COG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J230641 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 872 3.5 HNRNPK ZBTB40 ZNF217 CTCF TCF12 SIN3A NRF1 POLR2G SP1 PHF8 COG2 SPRTN GNPAT C1orf131 ENSG00000223393 C1orf198 AGT lnc-CAPN9-4
GH01J231418 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.1 +777.6 777645 7.8 EP300 HNRNPK FOXK2 ZBTB40 CTCF ZSCAN5C TCF12 NRF1 POLR2G NCOR1 EGLN1 COG2 SPRTN piR-36758 ENSG00000287856
GH01J230728 Enhancer 1.3 Ensembl ENCODE dbSUPER 20 +86.8 86780 1.7 EP300 FOXK2 POLR2G NCOR1 KDM6A TCF7 ZBTB25 TGIF2 ZBTB7A SKI lnc-AGT-2 lnc-CAPN9-2 COG2 C1orf131 AGT LOC105373166 ENSG00000244137
GH01J230424 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 -216.0 -216012 4.7 SIN3A MYC TEAD4 ZNF639 ZIC2 REST ZBTB11 AFF1 ZBTB26 ZBTB25 ENSG00000282564 PGBD5 COG2
GH01J231625 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 +985.1 985051 3.4 ZSCAN5C TCF12 MYC NRF1 POLR2G ZNF300 NCOR1 FOS ZNF639 ZIC2 DISC1 C1orf131 SPRTN ARV1 COG2 RF00017-511 TSNAX-DISC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COG2

Top Transcription factor binding sites by QIAGEN in the COG2 gene promoter:
  • CBF(2)
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • NF-kappaB
  • NF-kappaB1
  • NF-Y
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2

Genomic Locations for COG2 Gene

Genomic Locations for COG2 Gene
chr1:230,642,456-230,693,985
(GRCh38/hg38)
Size:
51,530 bases
Orientation:
Plus strand
chr1:230,778,202-230,829,731
(GRCh37/hg19)
Size:
51,530 bases
Orientation:
Plus strand

Genomic View for COG2 Gene

Genes around COG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG2 Gene

Proteins for COG2 Gene

  • Protein details for COG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14746-COG2_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 2
    Protein Accession:
    Q14746
    Secondary Accessions:
    • Q86U99

    Protein attributes for COG2 Gene

    Size:
    738 amino acids
    Molecular mass:
    83208 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.

    Alternative splice isoforms for COG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG2 Gene

Post-translational modifications for COG2 Gene

  • Ubiquitination at Lys54, Lys188, Lys584, and Lys717
  • Modification sites at PhosphoSitePlus

Other Protein References for COG2 Gene

No data available for DME Specific Peptides for COG2 Gene

Domains & Families for COG2 Gene

Gene Families for COG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for COG2 Gene

Blocks:
  • COG complex component, COG2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93071, Homo sapiens component of oligomeric golgi complex 2 (COG2), mRNA (B1ALW7_HUMAN)
  • cDNA FLJ55945, highly similar to Conserved oligomeric Golgi complex component 2 (B7Z2Y2_HUMAN)
  • cDNA FLJ53111, highly similar to Conserved oligomeric Golgi complex component 2 (B7Z7N2_HUMAN)
  • Low density lipoprotein receptor defect C-complementing protein (COG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14746

UniProtKB/Swiss-Prot:

COG2_HUMAN :
  • Belongs to the COG2 family.
Family:
  • Belongs to the COG2 family.
genes like me logo Genes that share domains with COG2: view

Function for COG2 Gene

Molecular function for COG2 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi morphology and function.

Phenotypes From GWAS Catalog for COG2 Gene

Gene Ontology (GO) - Molecular Function for COG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15047703
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with COG2: view
genes like me logo Genes that share phenotypes with COG2: view

Human Phenotype Ontology for COG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COG2 Gene

MGI Knock Outs for COG2:
  • Cog2 Cog2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for COG2 Gene

miRTarBase miRNAs that target COG2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COG2 Gene

Localization for COG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG2 Gene

Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side.

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 COG2 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
nucleus 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IDA 7962052
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COG2: view

Pathways & Interactions for COG2 Gene

genes like me logo Genes that share pathways with COG2: view

Gene Ontology (GO) - Biological Process for COG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IBA,IMP 7962052
GO:0007030 Golgi organization IMP,IEA 7962052
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COG2: view

No data available for SIGNOR curated interactions for COG2 Gene

Drugs & Compounds for COG2 Gene

(49) Drugs for COG2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for COG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COG2: view

Transcripts for COG2 Gene

mRNA/cDNA for COG2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 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 COG2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COG2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for COG2 Gene

GeneLoc Exon Structure for
COG2

Expression for COG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COG2 Gene

Protein differential expression in normal tissues from HIPED for COG2 Gene

This gene is overexpressed in Bone (54.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COG2 Gene



Protein tissue co-expression partners for COG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COG2

SOURCE GeneReport for Unigene cluster for COG2 Gene:

Hs.211800

Evidence on tissue expression from TISSUES for COG2 Gene

  • Eye(4.2)
  • Nervous system(3.9)
  • Blood(3.6)
  • Liver(3.1)
  • Heart(2.9)
  • Kidney(2.4)
  • Muscle(2.4)
  • Thyroid gland(2.3)
  • Intestine(2)
  • Pancreas(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with COG2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COG2 Gene

Orthologs for COG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG2 31 30
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia cfa-mir-1841 31
  • 91 (a)
OneToOne
COG2 30
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia COG2 31 30
  • 87.13 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG2 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog2 17 31 30
  • 81.19 (n)
rat
(Rattus norvegicus)
Mammalia Cog2 30
  • 80.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG2 31 30
  • 77.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 85 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cog2 30
  • 69.21 (n)
Str.11116 30
zebrafish
(Danio rerio)
Actinopterygii cog2 31 30
  • 65.79 (n)
OneToOne
wufj87b02 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4936 30
fruit fly
(Drosophila melanogaster)
Insecta ldlCp 31 32 30
  • 45.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003824 30
  • 45.35 (n)
worm
(Caenorhabditis elegans)
Secernentea cogc-2 31 30
  • 39.37 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24840 30
  • 43.55 (n)
rice
(Oryza sativa)
Liliopsida Os03g0849600 30
  • 42.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for COG2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 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 COG2 Gene

ENSEMBL:
Gene Tree for COG2 (if available)
TreeFam:
Gene Tree for COG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COG2: view image

Paralogs for COG2 Gene

No data available for Paralogs for COG2 Gene

Variants for COG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COG2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
572881 Uncertain Significance: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 230,690,156(+) A/G INTRON_VARIANT
579951 Uncertain Significance: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 230,691,475(+) G/A MISSENSE_VARIANT
639686 Uncertain Significance: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 230,691,514(+) G/T MISSENSE_VARIANT
651045 Uncertain Significance: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 230,669,533(+) G/A MISSENSE_VARIANT
656151 Uncertain Significance: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 230,686,941(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for COG2 Gene

Variant ID Type Subtype PubMed ID
esv3444074 CNV insertion 20981092
esv3589093 CNV gain 21293372
nsv472983 CNV novel sequence insertion 20440878
nsv524949 CNV loss 19592680
nsv832836 CNV loss 17160897

Variation tolerance for COG2 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COG2 Gene

Human Gene Mutation Database (HGMD)
COG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG2 Gene

Disorders for COG2 Gene

MalaCards: The human disease database

(41) MalaCards diseases for COG2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iiq
  • cdg2q
lipid metabolism disorder
  • dyslipidemia
familial hypercholesterolemia
  • hyperlipoproteinemia, type ii
arteriosclerosis
  • arteriosclerotic vascular disease
hypobetalipoproteinemia, familial, 1
  • fhbl1
- elite association - COSMIC cancer census association via MalaCards
Search COG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COG2_HUMAN
  • Congenital disorder of glycosylation 2Q (CDG2Q) [MIM:617395]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:24784932}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COG2

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 COG2: view

No data available for Genatlas for COG2 Gene

Publications for COG2 Gene

  1. LDLC encodes a brefeldin A-sensitive, peripheral Golgi protein required for normal Golgi function. (PMID: 7962052) Podos SD … Krieger M (The Journal of cell biology 1994) 2 3 4 54
  2. Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. (PMID: 24784932) Kodera H … Saitsu H (Clinical genetics 2015) 3 4 54
  3. An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. (PMID: 19105203) Edwards TL … Ritchie MD (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 41 54
  5. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D … Psaty BM (Arteriosclerosis, thrombosis, and vascular biology 2008) 3 41 54

Products for COG2 Gene

Sources for COG2 Gene