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Protein

Conserved oligomeric Golgi complex subunit 2

Gene

COG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for normal Golgi morphology and function.

Caution

GO - Molecular functioni

  • protein transporter activity Source: UniProtKB

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: Reactome
  • Golgi organization Source: UniProtKB
  • intra-Golgi vesicle-mediated transport Source: UniProtKB

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network

Names & Taxonomyi

Protein namesi
Recommended name:
Conserved oligomeric Golgi complex subunit 2
Short name:
COG complex subunit 2
Alternative name(s):
Component of oligomeric Golgi complex 2
Low density lipoprotein receptor defect C-complementing protein
Gene namesi
Name:COG2
Synonyms:LDLC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000135775.13
HGNCiHGNC:6546 COG2
MIMi606974 gene
neXtProtiNX_Q14746

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2Q (CDG2Q)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance.
See also OMIM:617395
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078769634W → G in CDG2Q. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi22796
MalaCardsiCOG2
MIMi617395 phenotype
OpenTargetsiENSG00000135775
PharmGKBiPA26697

Polymorphism and mutation databases

BioMutaiCOG2
DMDMi2498512

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002134951 – 738Conserved oligomeric Golgi complex subunit 2Add BLAST738

Proteomic databases

EPDiQ14746
MaxQBiQ14746
PaxDbiQ14746
PeptideAtlasiQ14746
PRIDEiQ14746
TopDownProteomicsiQ14746-1 [Q14746-1]

PTM databases

iPTMnetiQ14746
PhosphoSitePlusiQ14746

Expressioni

Gene expression databases

BgeeiENSG00000135775
CleanExiHS_COG2
ExpressionAtlasiQ14746 baseline and differential
GenevisibleiQ14746 HS

Organism-specific databases

HPAiHPA076994

Interactioni

Subunit structurei

Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi11647747 interactors.
CORUMiQ14746
IntActiQ14746 15 interactors.
STRINGi9606.ENSP00000355629

Structurei

3D structure databases

ProteinModelPortaliQ14746
SMRiQ14746
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COG2 family.Curated

Phylogenomic databases

eggNOGiKOG2307 Eukaryota
ENOG410XU2D LUCA
GeneTreeiENSGT00390000012040
HOGENOMiHOG000046032
HOVERGENiHBG030902
InParanoidiQ14746
KOiK20289
OMAiSTHKYYE
OrthoDBiEOG091G05GZ
PhylomeDBiQ14746
TreeFamiTF105824

Family and domain databases

InterProiView protein in InterPro
IPR009316 COG2
IPR024603 COG_complex_COG2_C
IPR024602 COG_su2_N
PANTHERiPTHR12961 PTHR12961, 1 hit
PfamiView protein in Pfam
PF06148 COG2, 1 hit
PF12022 DUF3510, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14746-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKSRMNLPK GPDTLCFDKD EFMKEDFDVD HFVSDCRKRV QLEELRDDLE
60 70 80 90 100
LYYKLLKTAM VELINKDYAD FVNLSTNLVG MDKALNQLSV PLGQLREEVL
110 120 130 140 150
SLRSSVSEGI RAVDERMSKQ EDIRKKKMCV LRLIQVIRSV EKIEKILNSQ
160 170 180 190 200
SSKETSALEA SSPLLTGQIL ERIATEFNQL QFHAVQSKGM PLLDKVRPRI
210 220 230 240 250
AGITAMLQQS LEGLLLEGLQ TSDVDIIRHC LRTYATIDKT RDAEALVGQV
260 270 280 290 300
LVKPYIDEVI IEQFVESHPN GLQVMYNKLL EFVPHHCRLL REVTGGAISS
310 320 330 340 350
EKGNTVPGYD FLVNSVWPQI VQGLEEKLPS LFNPGNPDAF HEKYTISMDF
360 370 380 390 400
VRRLERQCGS QASVKRLRAH PAYHSFNKKW NLPVYFQIRF REIAGSLEAA
410 420 430 440 450
LTDVLEDAPA ESPYCLLASH RTWSSLRRCW SDEMFLPLLV HRLWRLTLQI
460 470 480 490 500
LARYSVFVNE LSLRPISNES PKEIKKPLVT GSKEPSITQG NTEDQGSGPS
510 520 530 540 550
ETKPVVSISR TQLVYVVADL DKLQEQLPEL LEIIKPKLEM IGFKNFSSIS
560 570 580 590 600
AALEDSQSSF SACVPSLSSK IIQDLSDSCF GFLKSALEVP RLYRRTNKEV
610 620 630 640 650
PTTASSYVDS ALKPLFQLQS GHKDKLKQAI IQQWLEGTLS ESTHKYYETV
660 670 680 690 700
SDVLNSVKKM EESLKRLKQA RKTTPANPVG PSGGMSDDDK IRLQLALDVE
710 720 730
YLGEQIQKLG LQASDIKSFS ALAELVAAAK DQATAEQP
Length:738
Mass (Da):83,208
Last modified:November 1, 1997 - v1
Checksum:i8E393CBE1114DB28
GO
Isoform 2 (identifier: Q14746-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     551-551: Missing.

Note: No experimental confirmation available.
Show »
Length:737
Mass (Da):83,136
Checksum:i9B2BF9F84F702F31
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048757288R → H. Corresponds to variant dbSNP:rs34796217Ensembl.1
Natural variantiVAR_029274304N → K. Corresponds to variant dbSNP:rs6681346Ensembl.1
Natural variantiVAR_048758589V → I. Corresponds to variant dbSNP:rs34109129Ensembl.1
Natural variantiVAR_078769634W → G in CDG2Q. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042942551Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z34975 mRNA Translation: CAA84427.1
AL158214 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69916.1
BC014960 mRNA Translation: AAH14960.1
BC051906 mRNA Translation: AAH51906.1
CCDSiCCDS1584.1 [Q14746-1]
CCDS44329.1 [Q14746-2]
PIRiA53542
RefSeqiNP_001138508.1, NM_001145036.1 [Q14746-2]
NP_031383.1, NM_007357.2 [Q14746-1]
UniGeneiHs.211800

Genome annotation databases

EnsembliENST00000366668; ENSP00000355628; ENSG00000135775 [Q14746-2]
ENST00000366669; ENSP00000355629; ENSG00000135775 [Q14746-1]
GeneIDi22796
KEGGihsa:22796
UCSCiuc001htw.4 human [Q14746-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOG2_HUMAN
AccessioniPrimary (citable) accession number: Q14746
Secondary accession number(s): Q86U99
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: April 25, 2018
This is version 148 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome