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Aliases for COG7 Gene

Aliases for COG7 Gene

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

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 congenital disorder of glycosylation, type ii and spinocerebellar ataxia 40. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COG7 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG7 Gene

Genomics for COG7 Gene

Regulatory Elements for COG7 Gene

Promoters for COG7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COG7 on UCSC Golden Path with GeneCards custom track

Genomic Location for COG7 Gene

Chromosome:
16
Start:
23,388,493 bp from pter
End:
23,453,210 bp from pter
Size:
64,718 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

Proteomics data for COG7 Gene at MOPED

Post-translational modifications for COG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COG7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COG7 Gene

Domains & Families for COG7 Gene

Gene Families for COG7 Gene

Protein Domains for COG7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG7 Gene

GenScript: Design optimal peptide antigens:

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.
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 Model Products

  • Taconic Biosciences Mouse Models for COG7

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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
Jensen Localization Image for COG7 Gene COMPARTMENTS Subcellular localization image for COG7 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0006886 intracellular protein transport IEA,IMP 15107842
GO:0007030 Golgi organization IBA --
GO:0033365 protein localization to organelle IMP 16420527
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

Unigene Clusters for COG7 Gene

Component of oligomeric golgi complex 7:
Representative Sequences:

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
ECgene alternative splicing isoforms for
COG7

Expression for COG7 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for COG7 Gene



SOURCE GeneReport for Unigene cluster for COG7 Gene Hs.185807

genes like me logo Genes that share expression patterns with COG7: view

Protein tissue co-expression partners for COG7 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
COG7 35
  • 99.48 (n)
  • 99.61 (a)
cow
(Bos Taurus)
Mammalia COG7 35
  • 89.13 (n)
  • 92.08 (a)
COG7 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COG7 36
  • 93 (a)
OneToOne
COG7 35
  • 89.65 (n)
  • 93.25 (a)
mouse
(Mus musculus)
Mammalia Cog7 16
Cog7 36
  • 92 (a)
OneToOne
Cog7 35
  • 88.05 (n)
  • 92.47 (a)
oppossum
(Monodelphis domestica)
Mammalia COG7 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COG7 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cog7 35
  • 86.71 (n)
  • 91.43 (a)
chicken
(Gallus gallus)
Aves COG7 35
  • 74.71 (n)
  • 79.14 (a)
COG7 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COG7 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33970 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cog7 35
  • 71.27 (n)
  • 75.91 (a)
Str.16611 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1624 35
zebrafish
(Danio rerio)
Actinopterygii cog7 35
  • 66.88 (n)
  • 70.8 (a)
cog7 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004439 35
  • 42.38 (n)
  • 28.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cog7 35
  • 43.76 (n)
  • 30.72 (a)
Cog7 36
  • 29 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EYE 35
  • 42.92 (n)
  • 29.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for COG7:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for COG7 Gene

No data available for Paralogs for COG7 Gene

Variants for COG7 Gene

Sequence variations from dbSNP and Humsavar for COG7 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs16940094 - 23,398,119(+) CAGCC(A/G)TATTC nc-transcript-variant, reference, missense
rs250552 -- 23,429,640(-) attac(A/G)ggcac intron-variant
rs250553 -- 23,430,144(-) ctgca(C/G)ccagc intron-variant
rs250577 -- 23,416,737(-) TATTC(A/G)TATGA intron-variant
rs250578 -- 23,415,789(-) GGGTA(C/T)GCAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1768 CNV Insertion 18451855

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)

Relevant External Links for COG7 Gene

HapMap Linkage Disequilibrium report
COG7
Human Gene Mutation Database (HGMD)
COG7

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

Disorders for COG7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for COG7 Gene - From: OMIM, ClinVar, GeneTests, and DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
shaheen syndrome
  • shns
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
- elite association - COSMIC cancer census association via MalaCards
Search COG7 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for COG7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG7
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 M.G. (J. Cell Biol. 2002) 2 3 4 67
  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 R.A. (Eur. J. Hum. Genet. 2007) 3 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for COG7 Gene

Sources for COG7 Gene

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