Gene Gene information from NCBI Gene database.
Entrez ID 83548
Gene name Component of oligomeric golgi complex 3
Gene symbol COG3
Synonyms (NCBI Gene)
CDG2BBSEC34
Chromosome 13
Chromosome location 13q14.13
Summary This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein
miRNA miRNA information provided by mirtarbase database.
314
miRTarBase ID miRNA Experiments Reference
MIRT017229 hsa-miR-335-5p Microarray 18185580
MIRT068738 hsa-miR-92a-3p HITS-CLIP 22473208
MIRT068743 hsa-miR-92b-3p HITS-CLIP 22473208
MIRT068737 hsa-miR-32-5p HITS-CLIP 22473208
MIRT902105 hsa-miR-1245b-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 27066481
GO:0000139 Component Golgi membrane TAS
GO:0000301 Process Retrograde transport, vesicle recycling within Golgi IMP 27066481
GO:0005515 Function Protein binding IPI 19536132, 24806965, 32296183, 32814053
GO:0005794 Component Golgi apparatus IDA 11980916
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606975 18619 ENSG00000136152
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JB2
Protein name Conserved oligomeric Golgi complex subunit 3 (COG complex subunit 3) (Component of oligomeric Golgi complex 3) (Vesicle-docking protein SEC34 homolog) (p94)
Protein function Involved in ER-Golgi transport (PubMed:11929878). Also involved in retrograde (Golgi to ER) transport (PubMed:37711075).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04136 Sec34 130 277 Sec34-like family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in pancreas and testis and lowest levels in lung. {ECO:0000269|PubMed:11292827}.
Sequence
MAEAALLLLPEAAAERDAREKLALWDRRPDTTAPLTDRQTDSVLELKAAAENLPVPAELP
IEDLCSLTSQSLPIELTSVVPESTEDILLKGFTSLGMEEERIETAQQFFSWFAKLQTQMD
QDEGTKYRQMRDYLSGFQEQCDAILNDVNSALQHLESLQKQYLFVSNKTGTLHEACEQLL
KEQSELVDLAENIQQKLSYFNELETINTKLNSPTLSVNSDGFIPMLAKLDDCITYISSHP
NFKDYPIYLLKFKQCLSKALHLMKTYTVNTLQTLTSQ
LLKRDPSSVPNADNAFTLFYVKF
RAAAPKVRTLIEQIELRSEKIPEYQQLLNDIHQCYLDQRELLLGPSIACTVAELTSQNNR
DHCALVRSGCAFMVHVCQDEHQLYNEFFTKPTSKLDELLEKLCVSLYDVFRPLIIHVIHL
ETLSELCGILKNEVLEDHVQNNAEQLGAFAAGVKQMLEDVQERLVYRTHIYIQTDITGYK
PAPGDLAYPDKLVMMEQIAQSLKDEQKKVPSEASFSDVHLEEGESNSLTKSGSTESLNPR
PQTTISPADLHGMWYPTVRRTLVCLSKLYRCIDRAVFQGLSQEALSACIQSLLGASESIS
KNKTQIDGQLFLIKHLLILREQIAPFHTEFTIKEISLDLKKTRDAAFKILNPMTVPRFFR
LNSNNALIEFLLEGTPEIREHYLDSKKDVDRHLKSACEQFIQQQTKLFVEQLEEFMTKVS
ALKTMASQGGPKYTLSQQPWAQPAKVNDLAATAYKTIKTKLPVTLRSMSLYLSNKDTEFI
LFKPVRNNIQQVFQKFHALLKEEFSPEDIQIIACPSMEQLSLLLLVSK
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital disorder of glycosylation, type IIbb no classifications from unflagged records; Uncertain significance rs1259403392, rs755933277, rs190361011 RCV003337695
RCV003337696
RCV004566541
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 34539936
Congenital Disorders of Glycosylation Associate 37711075
Developmental Disabilities Associate 37711075
Epilepsy Associate 37711075
Facial Dysmorphism with Multiple Malformations Associate 37711075
Intellectual Disability Associate 37711075
Leukemia Myeloid Acute Associate 36796022
Microcephaly Associate 37711075