COPB2 (coat protein complex I subunit beta 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9276
Gene name Coat protein complex I subunit beta 2
Gene symbol COPB2
Synonyms (NCBI Gene)
MCPH19OPDDbeta'-COP
Chromosome 3
Chromosome location 3q23
Summary The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1229568621 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
70
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (70)
miRTarBase ID miRNA Experiments Reference
MIRT036883 hsa-miR-877-3p CLASH 23622248
MIRT694310 hsa-miR-8066 HITS-CLIP 23313552
MIRT694309 hsa-miR-101-5p HITS-CLIP 23313552
MIRT694308 hsa-miR-300 HITS-CLIP 23313552
MIRT694307 hsa-miR-381-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 21988832, 25609649, 34504087, 35140242
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606990 2232 ENSG00000184432
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35606
Protein name Coatomer subunit beta' (Beta'-coat protein) (Beta'-COP) (p102)
Protein function The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi ne
PDB 8D30 , 8D41
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 89 → 127 WD domain, G-beta repeat Repeat
PF00400 WD40 132 → 171 WD domain, G-beta repeat Repeat
PF00400 WD40 175 → 215 WD domain, G-beta repeat Repeat
PF00400 WD40 219 → 257 WD domain, G-beta repeat Repeat
PF04053 Coatomer_WDAD 319 → 763 Coatomer WD associated region Family
Sequence 
MPLRLDIKRKLTARSDRVKSVDLHPTEPWMLASLYNGSVCVWNHETQTLVKTFEVCDLPV
RAAKFVARKNWVVTGADDMQIRVFNYNTLERVHMFEAHSDYIRCIAVHPTQPFILTSSDD
MLIKLWDWDKKWSCSQVFEGHTHYVMQIVINPKDNNQFASASLDRTIKVWQLGSSSPNFT
LEGHEKGVNCIDYYSGGDKPYLISGADDRLVKIWDYQNKTCVQTLEGHAQNVSCASFHPE
LPIIITGSEDGTVRIWHSSTYRLESTLNYGMERVWCVASLRGSNNVALGYDEGSIIVKLG
REEPAMSMDANGKIIWAKHSEVQQANLKAMGDAEIKDGERLPLAVKDMGSCEIYPQTIQH
NPNGRFVVVCGDGEYIIYTAMALRNKSFGSAQEFAWAHDSSEYAIRESNSIVKIFKNFKE
KKSFKPDFGAESIYGGFLLGVRSVNGLAFYDWDNTELIRRIEIQPKHIFWSDSGELVCIA
TEESFFILKYLSEKVLAAQETHEGVTEDGIEDAFEVLGEIQEIVKTGLWVGDCFIYTSSV
NRLNYYVGGEIVTIAHLDRTMYLLGYIPKDNRLYLGDKELNIISYSLLVSVLEYQTAVMR
RDFSMADKVLPTIPKEQRTRVAHFLEKQGFKQQALTVSTDPEHRFELALQLGELKIAYQL
AVEAESEQKWKQLAELAISKCQFGLAQECLHHAQDYGGLLLLATASGNANMVNKLAEGAE
RDGKNNVAFMSYFLQGKVDACLELLIRTGRLPEAAFLARTYLPSQVSRVVKLWRENLSKV
NQKAAESLADPTEYENLFPGLKEAFVVEEWVKETHADLWPAKQYPLVTPNEERNVMEEGK
DFQPSRSTAQQELDGKPASPTPVIVASHTANKEEKSLLELEVDLDNLELEDIDTTDINLD
EDILDD
Sequence length 906
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly 19, primary, autosomal recessive Pathogenic rs1229568621 RCV000516154
Osteoporosis, childhood- or juvenile-onset, with developmental delay Pathogenic; Likely pathogenic rs2107801858, rs2107807701, rs2472899515 RCV002248440
RCV002248441
RCV003142298
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs141832843, rs190280793 RCV005925866
RCV005926194
Colon adenocarcinoma Benign rs114080239 RCV005928730
COPB2-related disorder Uncertain significance; Likely benign rs2107801839, rs2107797719, rs2472906509, rs774396539, rs575521367 RCV001788996
RCV001787403
RCV003901779
RCV003944581
RCV003961720
Familial cancer of breast Benign rs141832843, rs190280793 RCV005925864
RCV005926191
Show/Hide Text Mining Associations (24)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32004259
Breast Neoplasms Stimulate 31119859
Breast Neoplasms Associate 31926110
Carcinoma Hepatocellular Associate 33824874, 40191726
Chemical and Drug Induced Liver Injury Associate 34122778
Cholangiocarcinoma Associate 29509246
Colonic Neoplasms Associate 34676262
Colorectal Neoplasms Associate 28415695, 33211699
COVID 19 Associate 34122778
Glioma Associate 31710183