COPB2 (coat protein complex I subunit beta 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9276
Gene name Gene Name - the full gene name approved by the HGNC.
Coat protein complex I subunit beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COPB2
Synonyms (NCBI Gene) Gene synonyms aliases
MCPH19, OPDD, beta'-COP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606990 2232 ENSG00000184432
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly microcephaly 19, primary, autosomal recessive rs1229568621 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Osteoporosis osteoporosis, childhood- or juvenile-onset, with developmental delay N/A N/A GenCC
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease 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