Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Celsr2provided by MGI
Official Full Name: cadherin, EGF LAG seven-pass G-type receptor 2provided by MGI
Primary source: MGI:MGI:1858235
See related: Ensembl:ENSMUSG00000068740 AllianceGenome:MGI:1858235
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EGFL2; mfmi1; Adgrc2; flamingo; Flamingo1; mKIAA0279
Summary: Predicted to enable G protein-coupled receptor activity and calcium ion binding activity. Involved in several processes, including Wnt signaling pathway; homophilic cell adhesion via plasma membrane adhesion molecules; and neural plate anterior/posterior regionalization. Acts upstream of or within several processes, including cerebrospinal fluid secretion; cilium assembly; and nervous system development. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; skin; and visual system. Used to study hydrocephalus. Orthologous to human CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 14.7), kidney adult (RPKM 13.4) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F3; 3 47.02 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (108298164..108323416, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (108390848..108416069, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Celsr2 regulates NMDA receptors and dendritic homeostasis in dorsal CA1 to enable social memory.
Title: Celsr2 regulates NMDA receptors and dendritic homeostasis in dorsal CA1 to enable social memory.
Celsr2-mediated morphological polarization and functional phenotype of reactive astrocytes in neural repair.
Title: Celsr2-mediated morphological polarization and functional phenotype of reactive astrocytes in neural repair.
Planar cell polarity protein Celsr2 maintains structural and functional integrity of adult cortical synapses.
Title: Planar cell polarity protein Celsr2 maintains structural and functional integrity of adult cortical synapses.
Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
Title: Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.
Title: CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.
The first signal, controlled by cadherin, EGF-like, laminin G-like, seven-pass, G-type receptor (Celsr) 2, Celsr3, Frizzled3 (Fzd3) and Van Gogh like2 (Vangl2) organizes multicilia in individual cells (single-cell polarity)
Title: A dual role for planar cell polarity genes in ciliated cells.
Celsr2-3 and Fzd3 regulate axonal navigation in the forebrain by using mechanisms different from classical epithelial core planar cell polarity, and require interacting partners other than Vangl1-2 that remain to be identified.
Title: Genetic evidence that Celsr3 and Celsr2, together with Fzd3, regulate forebrain wiring in a Vangl-independent manner.
Study shows Flamingo (Fmi) and Frizzled (Fz) 8, members of noncanonical Wnt signaling, both express in and functionally maintain quiescent long-term hematopoietic stem cells.
Title: Noncanonical Wnt signaling maintains hematopoietic stem cells in the niche.
Celsr2 and Celsr3 control the development and function of ependymal cilia; findings suggest that planar cell polarity signaling is involved in ependymal cilia development and in the pathophysiology of hydrocephalus, and possibly other ciliopathies
Title: Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus.
Developmental expression profiles of Celsr (Flamingo) genes in the mouse
Title: Developmental expression profiles of Celsr (Flamingo) genes in the mouse.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Celsr2 (e-PCR), detects polymorphism
- UniSTS:164878

Celsr2 (e-PCR), detects polymorphism
- UniSTS:547858

CELSR2 (e-PCR)
- UniSTS:503845

NoName (e-PCR)
- UniSTS:234802

UniSTS:495983 (e-PCR)
- UniSTS:495983

Celsr2 (e-PCR), detects polymorphism
- UniSTS:495983

AW553336 (e-PCR)
- UniSTS:207551

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cerebrospinal fluid secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within motor neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural plate anterior/posterior regionalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein localization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: cadherin EGF LAG seven-pass G-type receptor 2

Names: cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila); flamingo homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001004177.3 → NP_001004177.2 cadherin EGF LAG seven-pass G-type receptor 2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL671899, AL672200

Conserved Domains (9) summary

smart00303
Location:2315 → 2368

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:404 → 501

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:1972 → 2034

HormR; Domain present in hormone receptors

smart00180
Location:1924 → 1969

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:1289 → 1324

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1369 → 1552

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01500
Location:1806 → 1956

Keratin_B2; Keratin, high sulfur B2 protein

pfam16489
Location:2052 → 2287

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl21561
Location:2374 → 2605

7tm_4; Olfactory receptor
NM_017392.4 → NP_059088.2 cadherin EGF LAG seven-pass G-type receptor 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_059088.2

Status: VALIDATED

Source sequence(s)

AL671899, AL672200

Consensus CDS

CCDS17759.1

UniProtKB/Swiss-Prot

A2AEE7, Q99K26, Q9R0M0, Q9Z2R4

Related

ENSMUSP00000088046.4, ENSMUST00000090558.11

Conserved Domains (10) summary

smart00303
Location:2315 → 2368

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:404 → 501

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:1972 → 2034

HormR; Domain present in hormone receptors

smart00180
Location:1924 → 1969

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:1289 → 1324

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1369 → 1552

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00053
Location:1850 → 1889

Laminin_EGF; Laminin EGF domain

pfam16489
Location:2051 → 2289

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cd14964
Location:2376 → 2400

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:2373 → 2626

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

108298164..108323416 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319649.3 → XP_017175138.1 cadherin EGF LAG seven-pass G-type receptor 2 isoform X2

Conserved Domains (10) summary

cd11304
Location:404 → 501

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:1972 → 2034

HormR; Domain present in hormone receptors

smart00180
Location:1924 → 1969

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:1289 → 1324

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1369 → 1552

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd14964
Location:2375 → 2400

7tm_GPCRs; TM helix 1 [structural motif]

pfam00053
Location:1850 → 1889

Laminin_EGF; Laminin EGF domain

pfam01825
Location:2317 → 2362

GPS; GPCR proteolysis site, GPS, motif

pfam16489
Location:2051 → 2289

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl28897
Location:2373 → 2626

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_006501691.5 → XP_006501754.1 cadherin EGF LAG seven-pass G-type receptor 2 isoform X1

Conserved Domains (10) summary

cd11304
Location:404 → 501

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:1972 → 2034

HormR; Domain present in hormone receptors

smart00180
Location:1924 → 1969

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:1289 → 1324

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1369 → 1552

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd14964
Location:2375 → 2400

7tm_GPCRs; TM helix 1 [structural motif]

pfam00053
Location:1850 → 1889

Laminin_EGF; Laminin EGF domain

pfam01825
Location:2317 → 2362

GPS; GPCR proteolysis site, GPS, motif

pfam16489
Location:2051 → 2289

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl28897
Location:2373 → 2626

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_006501692.3 → XP_006501755.1 cadherin EGF LAG seven-pass G-type receptor 2 isoform X3

Conserved Domains (8) summary

smart00008
Location:849 → 911

HormR; Domain present in hormone receptors

smart00180
Location:801 → 846

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:166 → 201

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:246 → 429

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd14964
Location:1252 → 1277

7tm_GPCRs; TM helix 1 [structural motif]

pfam01825
Location:1194 → 1239

GPS; GPCR proteolysis site, GPS, motif

pfam16489
Location:928 → 1166

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl28897
Location:1250 → 1503

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily