COG8 component of oligomeric golgi complex 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COG8provided by HGNC
Official Full Name: component of oligomeric golgi complex 8provided by HGNC
Primary source: HGNC:HGNC:18623
See related: Ensembl:ENSG00000213380 MIM:606979; AllianceGenome:HGNC:18623
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DOR1; CDG2H
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69326428..69339564, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (75128123..75141258, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69360331..69373467, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes
Title: Membrane detachment is not essential for COG complex function.
The exome sequencing was performed to screen all CDG type II-related genes, and two novel frameshift mutations were found: c.171dupG (p.Leu58Alafs*29) and c.1656dupC (p.Ala553Argfs*15) in COG8.
Title: Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
TMED6-COG8 chimera might act as a novel diagnostic marker in TFE3 translocation renal cell carcinoma.
Title: TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.
Targeted silencing of components of lobe B of the COG complex, namely COG5, COG6, COG7 and COG8, inhibited HIV-1 replication
Title: Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.
wthe origin, evolution and preservation of the COG8/PDF same-strand overlap follow similar mechanistic steps as those documented for antisense overlaps where gain and/or loss of splice sites and polyadenylation signals seems to drive the process.
Title: Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
COG8-congenital disorder of glycosylation MedGen: C1970021 OMIM: 611182 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48796 (e-PCR)
- UniSTS:92195

SHGC-34961 (e-PCR)
- UniSTS:75180

SHGC-144957 (e-PCR)
- UniSTS:172483

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, vesicle recycling within Golgi	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of Golgi transport complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Golgi transport complex	IDA Inferred from Direct Assay more info	PubMed
part_of Golgi transport complex	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: conserved oligomeric Golgi complex subunit 8

Names: COG complex subunit 8; conserved oligomeric golgi complex component 8; dependent on RIC1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009013.2 RefSeqGene

Range

5000..18136

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001374871.1 → NP_001361800.1 conserved oligomeric Golgi complex subunit 8 isoform 2

Status: REVIEWED

Source sequence(s)

AC026464

Consensus CDS

CCDS92189.1

UniProtKB/TrEMBL

B4DYU2, H3BQV3

Related

ENSP00000455954.1, ENST00000562081.2

Conserved Domains (1) summary

pfam04124
Location:50 → 364

Dor1; Dor1-like family
NM_001379261.1 → NP_001366190.1 conserved oligomeric Golgi complex subunit 8 isoform 3

Status: REVIEWED

Source sequence(s)

AC026464

UniProtKB/TrEMBL

B4DYU2

Conserved Domains (1) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family
NM_001379262.1 → NP_001366191.1 conserved oligomeric Golgi complex subunit 8 isoform 4

Status: REVIEWED

Source sequence(s)

AC026464

UniProtKB/TrEMBL

B4DYU2

Conserved Domains (2) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family

cl00234
Location:588 → 627

Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...
NM_001379263.1 → NP_001366192.1 conserved oligomeric Golgi complex subunit 8 isoform 5

Status: REVIEWED

Source sequence(s)

AC026464

UniProtKB/TrEMBL

B4DYU2

Conserved Domains (1) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family
NM_001379264.1 → NP_001366193.1 conserved oligomeric Golgi complex subunit 8 isoform 1

Status: REVIEWED

Source sequence(s)

AC026464

Consensus CDS

CCDS10876.1

UniProtKB/Swiss-Prot

Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8

UniProtKB/TrEMBL

B4DYU2

Conserved Domains (1) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family
NM_001379265.1 → NP_001366194.1 conserved oligomeric Golgi complex subunit 8 isoform 6

Status: REVIEWED

Source sequence(s)

AC026464

UniProtKB/TrEMBL

B4DYU2

Conserved Domains (2) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family

cl00234
Location:528 → 568

Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...
NM_001379266.1 → NP_001366195.1 conserved oligomeric Golgi complex subunit 8 isoform 7

Status: REVIEWED

Source sequence(s)

AC026464

Conserved Domains (1) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family
NM_032382.5 → NP_115758.3 conserved oligomeric Golgi complex subunit 8 isoform 1

See identical proteins and their annotated locations for NP_115758.3

Status: REVIEWED

Source sequence(s)

AC026464, BC017492, BC121022

Consensus CDS

CCDS10876.1

UniProtKB/Swiss-Prot

Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8

UniProtKB/TrEMBL

B4DYU2

Related

ENSP00000305459.6, ENST00000306875.10

Conserved Domains (1) summary

pfam04124
Location:50 → 388

Dor1; Dor1-like family