Cpne1 MGI Mouse Gene Detail - MGI:2386621

Symbol

Cpne1
Name

copine I
Synonyms

1810028N16Rik

Feature Type

protein coding gene
IDs

MGI:2386621
NCBI Gene: 266692
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr2:155913765-155953847 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 77.34 cM
Mapping Data

2 experiments

SNPs within 2kb

999 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2386621	protein coding gene	Chr2:155913762-155953885 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026755	protein coding gene	Chr2:160929573-160971326 (-)
A/J	MGP_AJ_G0026721	protein coding gene	Chr2:154542914-154583001 (-)
AKR/J	MGP_AKRJ_G0026692	protein coding gene	Chr2:159028972-159069725 (-)
BALB/cJ	MGP_BALBcJ_G0026730	protein coding gene	Chr2:154837789-154877923 (-)
C3H/HeJ	MGP_C3HHeJ_G0026473	protein coding gene	Chr2:159390670-159434189 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027179	protein coding gene	Chr2:165659284-165702757 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024549	protein coding gene	Chr2:148037055-148078205 (-)
CAST/EiJ	MGP_CASTEiJ_G0025934	protein coding gene	Chr2:159718577-159758710 (-)
CBA/J	MGP_CBAJ_G0026450	protein coding gene	Chr2:171679891-171729702 (-)
DBA/2J	MGP_DBA2J_G0026587	protein coding gene	Chr2:153714839-153754971 (-)
FVB/NJ	MGP_FVBNJ_G0026554	protein coding gene	Chr2:152094782-152135778 (-)
LP/J	MGP_LPJ_G0026692	protein coding gene	Chr2:161069842-161111976 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026575	protein coding gene	Chr2:175632735-175675101 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027235	protein coding gene	Chr2:158906188-158946659 (-)
PWK/PhJ	MGP_PWKPhJ_G0025668	protein coding gene	Chr2:153221336-153261835 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025471	protein coding gene	Chr2:157850673-157893079 (-)
WSB/EiJ	MGP_WSBEiJ_G0026004	protein coding gene	Chr2:159794453-159836889 (-)

Human Ortholog

CPNE1, copine 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CPNE1, copine 1
Synonyms

COPN1, CPN1
Links

HGNC:2314

NCBI Gene ID: 8904

neXtProt AC: NX_Q99829

UniProt: Q99829
Chr Location

20q11.22; chr20:35626031-35664956 (-) GRCh38

MGI Vertebrate Homology

Cpne1 stringent orthology
1 human;1 mouse;2 rat;1 zebrafish
HCOP

vertebrate homology predictions: CPNE1
Gene Tree

Cpne1

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
4 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

3
Endonuclease-mediated

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

82 strains or lines available

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All GO Annotations

36
GO References

7

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	membraneless 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

710
Tissues

4
cDNA Data

8
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cpne1

ZFIN cpne1

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All Sequences

84
RefSeq

4
UniProt

15
CCDS

CCDS16960.1

Ensembl

ENSMUSG00000074643 (Evidence)
NCBI Gene

266692

			Length	Strain/Species	Flank
genomic	266692	NCBI Gene Model \| MGI Sequence Detail	40083	C57BL/6J	± kb
transcript	NM_170588	RefSeq \| MGI Sequence Detail	3478	C57BL/6
polypeptide	Q8C166	UniProt \| EBI \| MGI Sequence Detail	536	Not Applicable

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UniProt

15 Sequences
Protein Ontology

PR:000005816 copine-1

(term hierarchy)
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR045052 Copine

IPR037768 Copine, C2B domain

IPR010734 Copine, C-terminal

IPR050666 Epithelial Splicing Regulatory

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR034594 RBM12, RNA recognition motif 2

IPR034855 RBM12, RNA recognition motif 3

IPR034856 RBM12, RNA recognition motif 4

IPR035979 RNA-binding domain superfamily

IPR000504 RNA recognition motif domain

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A
GlyGen

Q8C166 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 8

cDNA 8

Microarray probesets 3

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MGI:1917027

Summaries

All 34

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 4
Earliest

J:86882 Creutz CE, et al., The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. J Biol Chem. 1998 Jan 16;273(3):1393-402
Latest

J:282442 Hernandez Cordero AI, et al., Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. Am J Hum Genet. 2019 Dec 5;105(6):1222-1236

TSS for Cpne1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr27030	Chr2:155953874-155953885 (-)	-33 bp
Tssr27029	Chr2:155953833-155953860 (-)	0 bp
Tssr27028	Chr2:155949948-155949952 (-)	3,897 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)
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