COG8

Protein identityUniProt · HPA

UniProt accession

Q96MW5

Gene

COG8

Ensembl

ENSG00000213380

Chromosome

16

Canonical length

612 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Golgi apparatus

OverviewNCBI Gene

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

612 residues, UniProt reviewed canonical sequence.

>Q96MW5|COG8
     1  MATAATIPSV ATATAAALGE VEDEGLLASL FRDRFPEAQW RERPDVGRYL RELSGSGLER
    61  LRREPERLAE ERAQLLQQTR DLAFANYKTF IRGAECTERI HRLFGDVEAS LGRLLDRLPS
   121  FQQSCRNFVK EAEEISSNRR MNSLTLNRHT EILEILEIPQ LMDTCVRNSY YEEALELAAY
   181  VRRLERKYSS IPVIQGIVNE VRQSMQLMLS QLIQQLRTNI QLPACLRVIG YLRRMDVFTE
   241  AELRVKFLQA RDAWLRSILT AIPNDDPYFH ITKTIEASRV HLFDIITQYR AIFSDEDPLL
   301  PPAMGEHTVN ESAIFHGWVL QKVSQFLQVL ETDLYRGIGG HLDSLLGQCM YFGLSFSRVG
   361  ADFRGQLAPV FQRVAISTFQ KAIQETVEKF QEEMNSYMLI SAPAILGTSN MPAAVPATQP
   421  GTLQPPMVLL DFPPLACFLN NILVAFNDLR LCCPVALAQD VTGALEDALA KVTKIILAFH
   481  RAEEAAFSSG EQELFVQFCT VFLEDLVPYL NRCLQVLFPP AQIAQTLGIP PTQLSKYGNL
   541  GHVNIGAIQE PLAFILPKRE TLFTLDDQAL GPELTAPAPE PPAEEPRLEP AGPACPEGGR
   601  AETQAEPPSV GP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COG8 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)

0.4

Highest tissue expression

23 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COG8.

Disease | AllUniProt

Conditions COG8 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 2H (CDG2H) MIM:611182

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 295 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• COG8-congenital disorder of glycosylation
• COG8-related disorder

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)

1.13

gnomAD pLI

0

gnomAD missense Z

-0.09

DepMap mean gene effect

-0.56

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

• Golgi apparatus
• Golgi membrane
• Golgi transport complex
• membrane
• trans-Golgi network membrane

Protein domainsUniProt · Pfam · InterPro

• Cullin repeat-like-containing domain superfamily
• Conserved oligomeric Golgi complex subunit 8
• Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae
• Dor1-like family

KeywordsUniProt

• Congenital disorder of glycosylation
• Golgi apparatus
• Membrane
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of COG8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COG2
• COG3
• COG7