COG8
entrez
84342
canonical
uniprot
Q96MW5
canonical
ensembl
ENSG00000213380
resolver
ensp
ENSP00000305459
resolver
ensp
ENSP00000455954
resolver
enst
ENST00000306875
resolver
enst
ENST00000562081
resolver
genesymbol
COG8
resolver
hgnc
HGNC:18623
resolver
uniprot
H3BQV3
resolver
uniprot
Q0VAK2
resolver
uniprot
Q8WVV6
resolver
uniprot
Q9H6F8
resolver
uniprot_entry
COG8_HUMAN
resolver
uniprot_entry
H3BQV3_HUMAN
resolver
uniprot_sec
Q0VAK2
resolver
uniprot_sec
Q8WVV6
resolver
uniprot_sec
Q9H6F8
resolver
amino_acid_sequence
MATAATIPSVATATAAALGEVEDEGLLASLFRDRFPEAQWRERPDVGRYLRELSGSGLERLRREPERLAEERAQLLQQTRDLAFANYKTFIRGAECTERIHRLFGDVEASLGRLLDRLPSFQQSCRNFVKEAEEISSNRRMNSLTLNRHTEILEILEIPQLMDTCVRNSYYEEALELAAYVRRLERKYSSIPVIQGIVNEVRQSMQLMLSQLIQQLRTNIQLPACLRVIGYLRRMDVFTEAELRVKFLQARDAWLRSILTAIPNDDPYFHITKTIEASRVHLFDIITQYRAIFSDEDPLLPPAMGEHTVNESAIFHGWVLQKVSQFLQVLETDLYRGIGGHLDSLLGQCMYFGLSFSRVGADFRGQLAPVFQRVAISTFQKAIQETVEKFQEEMNSYMLISAPAILGTSNMPAAVPATQPGTLQPPMVLLDFPPLACFLNNILVAFNDLRLCCPVALAQDVTGALEDALAKVTKIILAFHRAEEAAFSSGEQELFVQFCTVFLEDLVPYLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNLGHVNIGAIQEPLAFILPKRETLFTLDDQALGPELTAPAPEPPAEEPRLEPAGPACPEGGRAETQAEPPSVGP
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2H (CDG2H) [MIM:611182]: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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:17331980}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal Golgi function. {ECO:0000250}.
uniprot
proteins
mass_dalton
68424
uniprot
proteins
protein_family
COG8 family
uniprot
proteins
pubmed
11703943
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17331980
uniprot
proteins
pubmed
21269460
uniprot
proteins
sequence_length
612
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11703943}; Peripheral membrane protein {ECO:0000269|PubMed:11703943}.
uniprot
proteins