The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010] See more...

Aliases for COG7 Gene

Aliases for COG7 Gene

  • Component Of Oligomeric Golgi Complex 7 2 3 4 5
  • Conserved Oligomeric Golgi Complex Subunit 7 3 4
  • COG Complex Subunit 7 3 4
  • CDG2E 3
  • COG7 5

External Ids for COG7 Gene

Previous GeneCards Identifiers for COG7 Gene

  • GC16M022808
  • GC16M023487
  • GC16M023327
  • GC16M023366
  • GC16M021487

Summaries for COG7 Gene

Entrez Gene Summary for COG7 Gene

  • The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

GeneCards Summary for COG7 Gene

COG7 (Component Of Oligomeric Golgi Complex 7) is a Protein Coding gene. Diseases associated with COG7 include Immunodeficiency 47 and Congenital Disorder Of Glycosylation, Type Iil. Among its related pathways are Intra-Golgi traffic and Transport to the Golgi and subsequent modification.

UniProtKB/Swiss-Prot Summary for COG7 Gene

Gene Wiki entry for COG7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COG7 Gene

Genomics for COG7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COG7 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 COG7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COG7

Top Transcription factor binding sites by QIAGEN in the COG7 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CREB
  • deltaCREB
  • Egr-3
  • GCNF
  • p53
  • SEF-1 (1)
  • STAT5B

Genomic Locations for COG7 Gene

Genomic Locations for COG7 Gene
chr16:23,388,493-23,453,215
(GRCh38/hg38)
Size:
64,723 bases
Orientation:
Minus strand
chr16:23,399,814-23,464,512
(GRCh37/hg19)
Size:
64,699 bases
Orientation:
Minus strand

Genomic View for COG7 Gene

Genes around COG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG7 Gene

Proteins for COG7 Gene

  • Protein details for COG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P83436-COG7_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 7
    Protein Accession:
    P83436
    Secondary Accessions:
    • Q6UWU7

    Protein attributes for COG7 Gene

    Size:
    770 amino acids
    Molecular mass:
    86344 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.
    SequenceCaution:
    • Sequence=AAQ88995.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for COG7 Gene

Post-translational modifications for COG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COG7 Gene

No data available for DME Specific Peptides for COG7 Gene

Domains & Families for COG7 Gene

Gene Families for COG7 Gene

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

Protein Domains for COG7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG7 Gene

GenScript: Design optimal peptide antigens:
  • Component of oligomeric Golgi complex 7 (COG7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P83436

UniProtKB/Swiss-Prot:

COG7_HUMAN :
  • Belongs to the COG7 family.
Family:
  • Belongs to the COG7 family.
genes like me logo Genes that share domains with COG7: view

Function for COG7 Gene

Molecular function for COG7 Gene

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

Phenotypes From GWAS Catalog for COG7 Gene

Gene Ontology (GO) - Molecular Function for COG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15047703
genes like me logo Genes that share ontologies with COG7: view
genes like me logo Genes that share phenotypes with COG7: view

Human Phenotype Ontology for COG7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COG7 Gene

MGI Knock Outs for COG7:
  • Cog7 Cog7<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for COG7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COG7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COG7 Gene

Localization for COG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG7 Gene

Golgi apparatus membrane. Peripheral membrane protein.

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 COG7 gene
Compartment Confidence
golgi apparatus 5
nucleus 4
endosome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005730 nucleolus IDA --
GO:0005794 Golgi apparatus IEA,IDA 11980916
GO:0016020 membrane IEA --
GO:0017119 Golgi transport complex IEA,IDA 15047703
genes like me logo Genes that share ontologies with COG7: view

Pathways & Interactions for COG7 Gene

genes like me logo Genes that share pathways with COG7: view

Gene Ontology (GO) - Biological Process for COG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IMP 15107842
GO:0006886 intracellular protein transport IEA,IMP 15107842
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA,IMP 16420527
GO:0007030 Golgi organization IBA 21873635
genes like me logo Genes that share ontologies with COG7: view

No data available for SIGNOR curated interactions for COG7 Gene

Drugs & Compounds for COG7 Gene

No Compound Related Data Available

Transcripts for COG7 Gene

mRNA/cDNA for COG7 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 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 COG7

Alternative Splicing Database (ASD) splice patterns (SP) for COG7 Gene

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

ExUns: 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for COG7 Gene

GeneLoc Exon Structure for
COG7

Expression for COG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COG7 Gene

Protein differential expression in normal tissues from HIPED for COG7 Gene

This gene is overexpressed in Bone (51.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COG7 Gene



Protein tissue co-expression partners for COG7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COG7

SOURCE GeneReport for Unigene cluster for COG7 Gene:

Hs.185807

Evidence on tissue expression from TISSUES for COG7 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COG7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with COG7: 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 COG7 Gene

Orthologs for COG7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COG7 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COG7 30 31
  • 89.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COG7 30 31
  • 89.13 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cog7 30 17 31
  • 88.05 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COG7 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cog7 30
  • 86.71 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia COG7 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COG7 30 31
  • 74.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COG7 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cog7 30
  • 71.27 (n)
Str.16611 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33970 30
Zebrafish
(Danio rerio)
Actinopterygii cog7 30 31
  • 66.88 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1624 30
Fruit Fly
(Drosophila melanogaster)
Insecta Cog7 30 31
  • 43.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004439 30
  • 42.38 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons EYE 30
  • 42.92 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for COG7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for COG7 Gene

ENSEMBL:
Gene Tree for COG7 (if available)
TreeFam:
Gene Tree for COG7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COG7: view image

Paralogs for COG7 Gene

No data available for Paralogs for COG7 Gene

Variants for COG7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COG7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
641055 Uncertain Significance: COG7 congenital disorder of glycosylation 23,389,020(-) G/A MISSENSE_VARIANT
648494 Uncertain Significance: COG7 congenital disorder of glycosylation 23,392,494(-) C/A MISSENSE_VARIANT
648813 Uncertain Significance: COG7 congenital disorder of glycosylation 23,416,998(-) G/C MISSENSE_VARIANT
653166 Uncertain Significance: COG7 congenital disorder of glycosylation 23,442,504(-) C/T MISSENSE_VARIANT
657072 Likely Pathogenic: COG7 congenital disorder of glycosylation 23,445,046(-) A/G SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for COG7 Gene

Structural Variations from Database of Genomic Variants (DGV) for COG7 Gene

Variant ID Type Subtype PubMed ID
dgv2826n100 CNV gain 25217958
nsv1066078 CNV gain 25217958
nsv1127477 CNV deletion 24896259
nsv1134509 CNV deletion 24896259
nsv1768 CNV insertion 18451855
nsv475746 CNV novel sequence insertion 20440878

Variation tolerance for COG7 Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.03; 68.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COG7 Gene

Human Gene Mutation Database (HGMD)
COG7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COG7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG7 Gene

Disorders for COG7 Gene

MalaCards: The human disease database

(16) MalaCards diseases for COG7 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

COG7_HUMAN
  • Congenital disorder of glycosylation 2E (CDG2E) [MIM:608779]: A multisystem disorder 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. {ECO:0000269 PubMed:15107842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with COG7: view

No data available for Genatlas for COG7 Gene

Publications for COG7 Gene

  1. 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 4
  2. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. (PMID: 17356545) Morava E … Wevers RA (European journal of human genetics : EJHG 2007) 3 23
  3. 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
  4. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. (PMID: 15107842) Wu X … Freeze HH (Nature medicine 2004) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for COG7 Gene

Sources for COG7 Gene