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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
  • Conserved Oligomeric Golgi Complex Subunit 7 3
  • 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 Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Intra-Golgi traffic 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG7 Gene

Genomics for COG7 Gene

Regulatory Elements for COG7 Gene

Enhancers for COG7 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
GH16G023130 1.5 Ensembl ENCODE dbSUPER 15.9 +320.5 320479 3.9 PKNOX1 FOXA2 ARID4B DMAP1 FEZF1 TCF12 ZNF121 GATA2 NFYC MXD4 COG7 MFSD13B NPIPB5 ENSG00000260905 USP31 ENSG00000261090 ENSG00000260482 PIR56769
GH16G023503 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -52.4 -52407 4.0 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 ZNF2 ZNF766 FOS JUNB SMARCB1 DCTN5 COG7 UBFD1 GGA2 PRKCB LOC100419017 PIR42085
GH16G023119 1.3 Ensembl ENCODE dbSUPER 15.9 +332.6 332639 2.7 RING1 SOX13 ZNF146 TFAP4 PKNOX1 FEZF1 ZNF384 GATA3 GATA2 SCRT2 USP31 COG7 MFSD13B NPIPB5 ENSG00000260905 PIR56769
GH16G023536 1.6 Ensembl ENCODE dbSUPER 11.6 -86.1 -86074 4.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 FOS SP5 DCTN5 PALB2 ENSG00000260482 COG7 NDUFAB1 GGA2 SUB1P4 GC16M023544
GH16G023508 1.4 ENCODE dbSUPER 11.6 -56.6 -56602 2.6 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B DCTN5 ENSG00000260751 COG7 NDUFAB1 PALB2 ENSG00000260905 UBFD1 GGA2 PIR42085 LOC100419017
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COG7 on UCSC Golden Path with GeneCards custom track

Promoters for COG7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084549 310 1801 HDGF FOXA2 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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

Post-translational modifications for COG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COG7 Gene

Antibody Products

  • Abcam antibodies for COG7

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.

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 Model Products

  • Taconic Biosciences Mouse Models for COG7

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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
nucleus 5
golgi apparatus 5
cytosol 2
lysosome 1

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 IDA,IEA 11980916
GO:0016020 membrane IEA --
GO:0017119 Golgi transport complex IDA,IEA 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:0006810 transport IEA --
GO:0006886 intracellular protein transport IMP,IEA 15107842
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IMP 16420527
genes like me logo Genes that share ontologies with COG7: view

No data available for SIGNOR curated interactions for COG7 Gene

Transcripts for COG7 Gene

Unigene Clusters for COG7 Gene

Component of oligomeric golgi complex 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for COG7 Gene



Protein tissue co-expression partners for COG7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COG7 Gene:

COG7

SOURCE GeneReport for Unigene cluster for COG7 Gene:

Hs.185807

Evidence on tissue expression from TISSUES for COG7 Gene

  • Nervous system(4.6)

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

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

Primer 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 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia COG7 34 35
  • 89.65 (n)
cow
(Bos Taurus)
Mammalia COG7 34 35
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Cog7 34 16 35
  • 88.05 (n)
oppossum
(Monodelphis domestica)
Mammalia COG7 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cog7 34
  • 86.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COG7 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves COG7 34 35
  • 74.71 (n)
lizard
(Anolis carolinensis)
Reptilia COG7 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cog7 34
  • 71.27 (n)
Str.16611 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33970 34
zebrafish
(Danio rerio)
Actinopterygii cog7 34 35
  • 66.88 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1624 34
fruit fly
(Drosophila melanogaster)
Insecta Cog7 34 35
  • 43.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004439 34
  • 42.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EYE 34
  • 42.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for COG7 was found in the sources mined by GeneCards:
  • 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
rs797044712 Pathogenic 23,445,159(-) GTGTT(-/T)GGTAG nc-transcript-variant, reference, frameshift-variant
rs1057519232 Likely pathogenic 23,417,092(-) GTGCA(-/T)GGAGC nc-transcript-variant, reference, frameshift-variant
rs16940094 Likely benign 23,398,119(+) CAGCC(A/G)TATTC nc-transcript-variant, reference, missense
rs250587 Likely benign 23,388,873(-) TTTCG(C/T)GACTC nc-transcript-variant, utr-variant-3-prime
rs8057712 Likely benign 23,392,423(+) AGCTC(A/G)GGGAT nc-transcript-variant, reference, synonymous-codon

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)

Relevant External Links for COG7 Gene

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

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

Disorders for COG7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
- 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 64
  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 22 64
  3. 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
  4. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. (PMID: 15107842) Wu X. … Freeze H.H. (Nat. Med. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for COG7 Gene

Sources for COG7 Gene

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