Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83548
Gene name Gene Name - the full gene name approved by the HGNC.
Component of oligomeric golgi complex 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COG3
Synonyms (NCBI Gene) Gene synonyms aliases
CDG2BB, SEC34
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG2BB
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 19536132, 24806965
GO:0005794 Component Golgi apparatus IDA 11980916
GO:0005801 Component Cis-Golgi network IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606975 18619 ENSG00000136152
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Unknown
Disease term Disease name Evidence References Source
Congenital disorder of glycosylation congenital disorder of glycosylation, type IIbb GenCC
Associations from Text Mining
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