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

Gene ID: 84342, updated on 3-May-2020

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
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

Genomic context

See COG8 in Genome Data Viewer
Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (69326428..69339564, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69362524..69373526, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 22, pseudogene Neighboring gene syntrophin beta 2 Neighboring gene zinc finger CCHC-type and RNA binding motif containing 1 pseudogene Neighboring gene vacuolar protein sorting 4 homolog A Neighboring gene peptide deformylase, mitochondrial Neighboring gene nucleolar pre-rRNA processing protein NIP7 Neighboring gene transmembrane p24 trafficking protein 6 Neighboring gene telomeric repeat binding factor 2

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi transport complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi transport complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi transport complex NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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

  1. NG_009013.1 RefSeqGene

    Range
    5001..16003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC026464
    Related
    ENSP00000455954.1, ENST00000562081.2
  2. NM_001379261.1NP_001366190.1  conserved oligomeric Golgi complex subunit 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC026464
  3. NM_001379262.1NP_001366191.1  conserved oligomeric Golgi complex subunit 8 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC026464
  4. NM_001379263.1NP_001366192.1  conserved oligomeric Golgi complex subunit 8 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC026464
  5. NM_001379264.1NP_001366193.1  conserved oligomeric Golgi complex subunit 8 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC026464
  6. NM_001379265.1NP_001366194.1  conserved oligomeric Golgi complex subunit 8 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC026464
  7. NM_001379266.1NP_001366195.1  conserved oligomeric Golgi complex subunit 8 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC026464
  8. NM_032382.5NP_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
    Q96MW5
    UniProtKB/TrEMBL
    A0A024R6Z6
    Related
    ENSP00000305459.5, ENST00000306875.9
    Conserved Domains (1) summary
    pfam04124
    Location:50388
    Dor1; Dor1-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    69326428..69339564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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