Copb2 MGI Mouse Gene Detail - MGI:1354962 - COPI coat complex subunit beta 2

Symbol

Copb2
Name

COPI coat complex subunit beta 2

Feature Type

protein coding gene
IDs

MGI:1354962
NCBI Gene: 50797
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr9:98445784-98470428 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 51.40 cM, cytoband E3-F1
Mapping Data

2 experiments

SNPs within 2kb

224 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1354962	protein coding gene	Chr9:98445774-98470435 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035156	protein coding gene	Chr9:99868736-99894974 (+)
A/J	MGP_AJ_G0035138	protein coding gene	Chr9:96363046-96388165 (+)
AKR/J	MGP_AKRJ_G0035069	protein coding gene	Chr9:98728026-98752858 (+)
BALB/cJ	MGP_BALBcJ_G0035130	protein coding gene	Chr9:96042922-96067584 (+)
C3H/HeJ	MGP_C3HHeJ_G0034840	protein coding gene	Chr9:99108292-99132861 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035650	protein coding gene	Chr9:102733144-102757270 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032549	protein coding gene	Chr9:94125761-94150768 (+)
CAST/EiJ	MGP_CASTEiJ_G0034151	protein coding gene	Chr9:98913310-98938476 (+)
CBA/J	MGP_CBAJ_G0034808	protein coding gene	Chr9:106258150-106286494 (+)
DBA/2J	MGP_DBA2J_G0034970	protein coding gene	Chr9:95869457-95892739 (+)
FVB/NJ	MGP_FVBNJ_G0034918	protein coding gene	Chr9:94699996-94723076 (+)
LP/J	MGP_LPJ_G0035049	protein coding gene	Chr9:100122798-100147002 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034957	protein coding gene	Chr9:108195313-108220044 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035672	protein coding gene	Chr9:98935813-98962191 (+)
PWK/PhJ	MGP_PWKPhJ_G0033858	protein coding gene	Chr9:96081834-96106021 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033694	protein coding gene	Chr9:98996529-99021745 (+)
WSB/EiJ	MGP_WSBEiJ_G0034271	protein coding gene	Chr9:98816899-98841549 (+)

Human Ortholog

COPB2, COPI coat complex subunit beta 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COPB2, COPI coat complex subunit beta 2
Synonyms

beta'-COP, MCPH19, OPDD
Links

HGNC:2232

NCBI Gene ID: 9276

neXtProt AC: NX_P35606

UniProt: P35606
Chr Location

3q23; chr3:139353946-139389736 (-) GRCh38

MGI Vertebrate Homology

Copb2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COPB2
Protein SuperFamily

Coatomer_beta'_subunit
Gene Tree

Copb2

Diseases

1 with Copb2 mouse models; 1 with human COPB2 associations

Human Disease

Mouse Models

microcephaly

IDs

View 1 model

primary autosomal recessive microcephaly 19

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

18 phenotypes from 4 alleles in 4 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

2
Targeted

3
Genomic Mutations

1 involving Copb2
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display early embryonic lethality.

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All GO Annotations

15
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

858
Tissues

26
cDNA Data

272
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase copb2

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All Sequences

49
RefSeq

2
UniProt

1
CCDS

CCDS40734.1

Ensembl

ENSMUSG00000032458 (Evidence)
NCBI Gene

50797

			Length	Strain/Species	Flank
genomic	50797	NCBI Gene Model \| MGI Sequence Detail	24645	C57BL/6J	± kb
transcript	NM_015827	RefSeq \| MGI Sequence Detail	3043	NOD
polypeptide	O55029	UniProt \| EBI \| MGI Sequence Detail	905	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005735 coatomer subunit beta'

(term hierarchy)
PDB

5A1U, 5A1V, 5A1W, 5A1X, 5A1Y, 5NZR, 5NZS, 5NZT, 5NZU, 5NZV
InterPro Domains

IPR016453 Coatomer beta' subunit (COPB2)

IPR006692 Coatomer, WD associated region

IPR020472 G-protein beta WD-40 repeat

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

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All nucleic 274

cDNA 273

Primer pair 1

Microarray probesets 5

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MGI:2143003

Summaries

All 43

Developmental Gene Expression 3

Diseases 1

Gene Ontology 10

Phenotypes 12
Earliest

J:42235 Hosaka M, et al., Structure and intracellular localization of mouse ADP-ribosylation factors type 1 to type 6 (ARF1-ARF6). J Biochem. 1996 Oct;120(4):813-9
Latest

J:321261 Marom R, et al., COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724

TSS for Copb2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86662	Chr9:98445749-98445751 (+)	-34 bp
Tssr86663	Chr9:98445757-98445790 (+)	-10 bp
Tssr86664	Chr9:98445795-98445828 (+)	28 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23