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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
  • COG Complex Subunit 2 3 4
  • LDLC 3 4
  • Brefeldin A-Sensitive, Peripheral Golgi Protein 3
  • Conserved Oligomeric Golgi Complex Protein 2 3
  • Conserved Oligomeric Golgi Complex Subunit 2 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 Cog2-Cdg and Lipid Metabolism Disorder. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include protein complex binding and protein transporter activity.

UniProtKB/Swiss-Prot for COG2 Gene

  • Required for normal Golgi morphology and function.

Gene Wiki entry for COG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG2 Gene

Genomics for COG2 Gene

Regulatory Elements for COG2 Gene

Enhancers for COG2 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
GH01F231418 1.2 ENCODE 21.9 +778.7 778749 5.5 HDGF MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS C1orf131 COG2 SNRPD2P2 RN7SL837P RPS24P4 LINC01737 EGLN1 SPRTN PIR59803
GH01F230750 1.7 VISTA Ensembl ENCODE 10.5 +110.4 110381 5.2 ELF3 PKNOX1 ZNF76 KLF17 ARID4B SIN3A ZSCAN9 RAD21 RARA GLIS2 CAPN9 AGT COG2 GC01P230769
GH01F230167 1.2 Ensembl ENCODE 13.7 -474.9 -474856 0.4 HDGF CBX3 ARNT ZNF133 ZNF76 KLF17 NFXL1 GLI4 ZNF2 RAD21 NUP133 COG2 GC01P230113 GC01M230200
GH01F231210 1.6 FANTOM5 Ensembl ENCODE 10 +569.5 569481 2.0 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ELK1 ZNF143 ZNF263 SP3 MIER2 GNPAT C1orf131 FAM89A MIR1182 LOC644006 LOC101927604 C1orf198 COG2 SPRTN LOC149373
GH01F230971 1.1 Ensembl ENCODE 13.2 +330.5 330545 2.8 CTCF HDAC1 ATF1 WRNIP1 RAD21 ZNF664 ZNF335 PRDM10 NFE2 ETV6 FAM89A COG2 MIR1182 ARV1 TTC13 C1orf198 GC01P230904
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COG2 on UCSC Golden Path with GeneCards custom track

Promoters for COG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000083547 344 2001 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF416 ZNF207 ZNF143

Genomic Location for COG2 Gene

Chromosome:
1
Start:
230,642,456 bp from pter
End:
230,693,985 bp from pter
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 Lys 54, Lys 188, Lys 584, and Lys 717
  • 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

Protein Domains for COG2 Gene

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.

Gene Ontology (GO) - Molecular Function for COG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15047703
GO:0008565 protein transporter activity IMP 7962052
GO:0032403 protein 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

Animal Models for COG2 Gene

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

Animal Model Products

miRNA for COG2 Gene

miRTarBase miRNAs that target COG2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 5
golgi apparatus 5
extracellular 3
nucleus 3
peroxisome 1
lysosome 1

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:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IMP 7962052
GO:0007030 Golgi organization IEA,IMP 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

(47) Drugs for COG2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) 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

Unigene Clusters for COG2 Gene

Component of oligomeric golgi complex 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for COG2 Gene



Protein tissue co-expression partners for COG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COG2 Gene:

COG2

SOURCE GeneReport for Unigene cluster for COG2 Gene:

Hs.211800
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia cfa-mir-1841 35
  • 91 (a)
OneToOne
COG2 34
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia COG2 34 35
  • 87.13 (n)
oppossum
(Monodelphis domestica)
Mammalia COG2 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog2 34 16 35
  • 81.19 (n)
rat
(Rattus norvegicus)
Mammalia Cog2 34
  • 80.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG2 34 35
  • 77.66 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cog2 34
  • 69.21 (n)
Str.11116 34
zebrafish
(Danio rerio)
Actinopterygii cog2 34 35
  • 65.79 (n)
wufj87b02 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4936 34
fruit fly
(Drosophila melanogaster)
Insecta ldlCp 36 34 35
  • 45.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003824 34
  • 45.35 (n)
worm
(Caenorhabditis elegans)
Secernentea cogc-2 34 35
  • 39.37 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24840 34
  • 43.55 (n)
rice
(Oryza sativa)
Liliopsida Os03g0849600 34
  • 42.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for COG2 Gene

No data available for Paralogs for COG2 Gene

Variants for COG2 Gene

Sequence variations from dbSNP and Humsavar for COG2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10002986 -- 230,655,934(-) ccacc(A/G)atccc intron-variant
rs1007456 -- 230,685,827(-) AGGTC(C/T)CAGCA intron-variant
rs10158310 -- 230,640,518(+) AAAAT(A/G)TCAGG upstream-variant-2KB
rs10495296 -- 230,667,534(+) AAGGT(A/G)AAACC intron-variant
rs10495297 -- 230,677,344(+) GTGTA(C/G)AGAGG intron-variant, upstream-variant-2KB

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)

Relevant External Links for COG2 Gene

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

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

Disorders for COG2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for COG2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cog2-cdg
  • cog2-related congenital disorder of glycosylation
lipid metabolism disorder
  • dyslipidemia
coronary artery disease
  • coronary artery anomaly
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
arteriosclerosis
  • arteriosclerosis nos
- elite association - COSMIC cancer census association via MalaCards
Search COG2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COG2

Genetic Association Database (GAD)
COG2
Human Genome Epidemiology (HuGE) Navigator
COG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG2
genes like me logo Genes that share disorders with COG2: view

No data available for UniProtKB/Swiss-Prot and 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 S.D. … Krieger M. (J. Cell Biol. 1994) 2 3 4 64
  2. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 46 64
  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 T.L. … Ritchie M.D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D. … Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 46 64
  5. 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

Products for COG2 Gene

Sources for COG2 Gene

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