COG6
Conserved oligomeric Golgi complex subunit 6
Also known as: COD2, COG6_HUMAN, KIAA1134
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2V7
- Gene
- COG6
- Ensembl
- ENSG00000133103
- Chromosome
- 13
- Canonical length
- 657 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles,Golgi apparatus
OverviewNCBI Gene
This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Canonical amino-acid sequenceUniProt
657 residues, UniProt reviewed canonical sequence.
>Q9Y2V7|COG6
1 MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KEMLEALKAL
61 STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE LESISEDVQA MSNCCQDMTS
121 RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA QVADAFLSKF QLTSDEMSLL RGTREGPITE
181 DFFKALGRVK QIHNDVKVLL RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE
241 SCDVSPVLTQ AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH
301 SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT EGVCRPLKVR
361 IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL TTIEEMHLLS KKIFFNSLSL
421 HASKLMDKVE LPPPDLGPSS ALNQTLMLLR EVLASHDSSV VPLDARQADF VQVLSCVLDP
481 LLQMCTVSAS NLGTADMATF MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ
541 ASYVLTRVGL SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL
601 NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ QVQTLLSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against COG6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 18 nTPM
- parathyroid gland: 17 nTPM
- testis: 15 nTPM
- heart muscle: 15 nTPM
- thyroid gland: 13 nTPM
- placenta: 13 nTPM
Single-cell type
- somatotrophs: 254 nCPM
- lactotrophs: 245 nCPM
- thyrotrophs: 182 nCPM
- corticotrophs: 170 nCPM
- choroid plexus epithelial cells: 155 nCPM
- gonadotrophs: 145 nCPM
Immune cell
- NK-cell: 7.1 nTPM
- MAIT T-cell: 6.6 nTPM
- T-reg: 6.5 nTPM
- naive CD8 T-cell: 5.4 nTPM
- memory CD8 T-cell: 5.3 nTPM
- intermediate monocyte: 5 nTPM
Brain region
- white matter: 26 nTPM
- cerebral cortex: 26 nTPM
- cerebellum: 24 nTPM
- choroid plexus: 24 nTPM
- basal ganglia: 21 nTPM
- pons: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about COG6.
Disease | AllUniProt
Conditions COG6 is implicated in, by any mechanism.
- Congenital disorder of glycosylation 2L (CDG2L) MIM:614576
- Shaheen syndrome (SHNS) MIM:615328
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 452 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- COG6-congenital disorder of glycosylation
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- COG6-related disorder
- Inborn genetic diseases
- Hypohidrosis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.02
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.18
- DepMap mean gene effect
- -0.4
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- Golgi organization
- intra-Golgi vesicle-mediated transport
- protein transport
- retrograde transport, vesicle recycling within Golgi
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Conserved oligomeric Golgi complex subunit 6
- Conserved oligomeric complex COG6, N-terminal
- Conserved Oligomeric Golgi complex subunit 6, C-terminal
- Conserved oligomeric complex COG6, N-terminal
- Conserved Oligomeric Golgi complex subunit 6, C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of COG6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COG6 as an antibody target. Whether an autoantibody or antibody against COG6 could matter depends on whether native COG6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COG6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label COG6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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