COG2 (GeneID: 22796) | Homo sapiens
Description: component of oligomeric golgi complex 2 [Source:HGNC Symbol;Acc:HGNC:6546]
Synonyms: CDG2Q, LDLC
Other ID(s): HGNC:6546, ENSG00000135775
Protein Accession Numbers: ENST00000366669.4, NP_001138508, ENST00000534989, ENST00000366669, ENST00000546013, ENST00000468893, ENST00000366668, NP_031383, ENST00000535166
Statistics: ClinVar(55) gnomAD(604) COSMIC(264) PTM(35)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000366668 ENST00000366669 You are here now! ENST00000468893 ENST00000534989 ENST00000535166 ENST00000546013 NP_001138508 NP_031383 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF06148 COG2 COG (conserved oligomeric Golgi) complex component, COG2 15-147 CL0295 Vps51 Homo sapiens
PF12022 DUF3510 Domain of unknown function (DUF3510) 573-699 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Congenital Disorders of Glycosylation Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.785 0.172
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq N/A 0.785 0.172
NO RESULT FOUND
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