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Aliases for COG4 Gene

Aliases for COG4 Gene

  • Component Of Oligomeric Golgi Complex 4 2 3 4
  • COG Complex Subunit 4 3 4
  • CDG2J 3 6
  • COD1 3 6
  • Conserved Oligomeric Golgi Complex Protein 4 3
  • Conserved Oligomeric Golgi Complex Subunit 4 3
  • Complexed With Dor1p 3

External Ids for COG4 Gene

Previous GeneCards Identifiers for COG4 Gene

  • GC16M061216
  • GC16M070934
  • GC16M070249
  • GC16M070290
  • GC16M069071
  • GC16M056346

Summaries for COG4 Gene

Entrez Gene Summary for COG4 Gene

  • The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

GeneCards Summary for COG4 Gene

COG4 (Component Of Oligomeric Golgi Complex 4) is a Protein Coding gene. Diseases associated with COG4 include congenital disorder of glycosylation, type iij and oculocerebrorenal syndrome.

UniProtKB/Swiss-Prot for COG4 Gene

  • Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.

Gene Wiki entry for COG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG4 Gene

Genomics for COG4 Gene

Regulatory Elements for COG4 Gene

Genomic Location for COG4 Gene

Start:
70,480,568 bp from pter
End:
70,523,565 bp from pter
Size:
42,998 bases
Orientation:
Minus strand

Genomic View for COG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG4 Gene

Proteins for COG4 Gene

  • Protein details for COG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9E3-COG4_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 4
    Protein Accession:
    Q9H9E3
    Secondary Accessions:
    • B4DMN8
    • C9JS23
    • Q96D40
    • Q9BRF0
    • Q9BVZ2
    • Q9H5Y4
    • Q9Y3W3

    Protein attributes for COG4 Gene

    Size:
    785 amino acids
    Molecular mass:
    89083 Da
    Quaternary structure:
    • Monomer. Component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Mediates interaction of SCFD1 with the COG complex. Interacts with STX5.
    SequenceCaution:
    • Sequence=BAB15483.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COG4 Gene

    Alternative splice isoforms for COG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG4 Gene

Proteomics data for COG4 Gene at MOPED

Post-translational modifications for COG4 Gene

  • Ubiquitination at Lys73
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COG4 Gene

Domains for COG4 Gene

Gene Families for COG4 Gene

HGNC:
  • COG :Components of oligomeric golgi complex

Protein Domains for COG4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H9E3

UniProtKB/Swiss-Prot:

COG4_HUMAN :
  • Q9H9E3
Family:
  • Belongs to the COG4 family.
genes like me logo Genes that share domains with COG4: view

Function for COG4 Gene

Molecular function for COG4 Gene

UniProtKB/Swiss-Prot Function: Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.

Gene Ontology (GO) - Molecular Function for COG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15047703
genes like me logo Genes that share ontologies with COG4: view

Phenotypes for COG4 Gene

GenomeRNAi human phenotypes for COG4:
genes like me logo Genes that share phenotypes with COG4: view

miRNA for COG4 Gene

miRTarBase miRNAs that target COG4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COG4 Gene

Localization for COG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG4 Gene

Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COG4 Gene COMPARTMENTS Subcellular localization image for COG4 gene
Compartment Confidence
golgi apparatus 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for COG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0016020 membrane --
GO:0017119 Golgi transport complex IDA 15047703
genes like me logo Genes that share ontologies with COG4: view

Pathways for COG4 Gene

SuperPathways for COG4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IMP 19536132
GO:0007030 Golgi organization IMP 19536132
GO:0015031 protein transport IEA --
GO:0048213 Golgi vesicle prefusion complex stabilization IMP 19536132
genes like me logo Genes that share ontologies with COG4: view

No data available for Pathways by source for COG4 Gene

Transcripts for COG4 Gene

Unigene Clusters for COG4 Gene

Component of oligomeric golgi complex 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COG4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: -
SP7:

Relevant External Links for COG4 Gene

GeneLoc Exon Structure for
COG4
ECgene alternative splicing isoforms for
COG4

Expression for COG4 Gene

mRNA expression in normal human tissues for COG4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COG4 Gene

SOURCE GeneReport for Unigene cluster for COG4 Gene Hs.208680

genes like me logo Genes that share expressions with COG4: 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 COG4 Gene

Orthologs for COG4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG4 35
  • 99.12 (n)
  • 98.94 (a)
COG4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COG4 35
  • 91.93 (n)
  • 96.18 (a)
COG4 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COG4 35
  • 92.98 (n)
  • 97.21 (a)
COG4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog4 35
  • 89.68 (n)
  • 94.39 (a)
Cog4 16
Cog4 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COG4 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COG4 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cog4 35
  • 90.32 (n)
  • 94.78 (a)
chicken
(Gallus gallus)
Aves COG4 35
  • 80.17 (n)
  • 86.01 (a)
COG4 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COG4 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145689 35
  • 75.8 (n)
  • 84.27 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10077 35
zebrafish
(Danio rerio)
Actinopterygii cog4 35
  • 69.67 (n)
  • 72.07 (a)
cog4 36
  • 72 (a)
OneToOne
Dr.214 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008875 35
  • 50.3 (n)
  • 41.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7456 35
  • 50.93 (n)
  • 41.2 (a)
CG7456 36
  • 39 (a)
OneToOne
CG7456 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea cogc-4 35
  • 47.04 (n)
  • 34.79 (a)
cogc-4 36
  • 30 (a)
OneToOne
Y51H7C.6a 37
  • 32 (a)
Y51H7C.6b 37
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COG4 36
  • 18 (a)
OneToOne
COG4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G01400 35
  • 46.35 (n)
  • 35.23 (a)
rice
(Oryza sativa)
Liliopsida Os.15610 35
Os02g0456000 35
  • 43.2 (n)
  • 30.56 (a)
Species with no ortholog for COG4:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 COG4 Gene

ENSEMBL:
Gene Tree for COG4 (if available)
TreeFam:
Gene Tree for COG4 (if available)

Paralogs for COG4 Gene

No data available for Paralogs for COG4 Gene

Variants for COG4 Gene

Sequence variations from dbSNP and Humsavar for COG4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs7919 -- 70,480,925(+) AAGCC(A/C)GACAG utr-variant-3-prime
rs11054 Likely benign 70,481,452(+) ATGAG(C/T)GACCT synonymous-codon, reference
rs722579 -- 70,494,321(+) GTAAG(C/T)GTGGA intron-variant
rs722580 -- 70,493,975(+) TCTCA(G/T)AACCC intron-variant
rs2303791 -- 70,497,851(-) TATTT(A/C)TTGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COG4 Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
nsv833272 CNV Loss 17160897
esv2714671 CNV Deletion 23290073
esv2047908 CNV Deletion 18987734
esv2675941 CNV Deletion 23128226
esv2673546 CNV Deletion 23128226
esv2439753 CNV Deletion 19546169
esv2008425 CNV Deletion 18987734
esv4553 CNV Deletion 18987735
esv2714672 CNV Deletion 23290073
esv8463 CNV Loss 19470904
esv2676236 CNV Deletion 23128226
esv2425317 CNV Deletion 19546169
esv1193820 CNV Deletion 17803354

Relevant External Links for COG4 Gene

HapMap Linkage Disequilibrium report
COG4
Human Gene Mutation Database (HGMD)
COG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG4 Gene

Disorders for COG4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for COG4 Gene including...

Search for COG4 Gene in MalaCards »

(1) OMIM Diseases for COG4 Gene (606976)

UniProtKB/Swiss-Prot

COG4_HUMAN
  • Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]: 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:19494034}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for COG4 Gene

Relevant External Links for COG4

Genetic Association Database (GAD)
COG4
Human Genome Epidemiology (HuGE) Navigator
COG4
genes like me logo Genes that share disorders with COG4: view

Publications for COG4 Gene

  1. Golgi function and dysfunction in the first COG4-deficient CDG type II patient. (PMID: 19494034) Reynders E. … Matthijs G. (Hum. Mol. Genet. 2009) 3 4
  2. Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. (PMID: 19536132) Laufman O. … Lev S. (EMBO J. 2009) 3 4
  3. Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. (PMID: 19651599) Richardson B.C. … Hughson F.M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4
  4. The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic. (PMID: 11703943) Whyte J.R. … Munro S. (Dev. Cell 2001) 3 4
  5. 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

Products for COG4 Gene

Sources for COG4 Gene

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