Evc2 EvC ciliary complex subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Evc2provided by MGI
Official Full Name: EvC ciliary complex subunit 2provided by MGI
Primary source: MGI:MGI:1915775
See related: Ensembl:ENSMUSG00000050248 AllianceGenome:MGI:1915775
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: Lbn; limbin; 1110017L09Rik
Summary: Involved in smoothened signaling pathway. Located in ciliary membrane and nucleus. Part of plasma membrane protein complex. Is expressed in several structures, including heart; limb bud; oral region epithelium; skeleton; and tooth. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 21.5), limb E14.5 (RPKM 10.3) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 20.15 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (37495801..37582399)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (37338478..37425055)

Chromosome 5 - NC_000071.7 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?

Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
Title: Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
By comparing neural crest-specific Evc2 mutants with control mice, study demonstrated that the abnormalities within the mid-facial regions are not accounted for by the Evc2 mutation within these regions.
Title: The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
Loss of EVC2 is associated with facial bone growth defect.
Title: Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.
Mutations in Evc2 affect dental mesenchymal stem cell homeostasis, which further leads to hypomorphic enamel formation in mice.
Title: Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice
Title: Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
This study identifies the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development.
Title: Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.
data reveal that the Hh pathway involves Evc/Evc2-dependent modulations that are necessary for normal endochondral bone formation
Title: The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
it is proposed that Hedgehog activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 to activate Gli proteins by antagonizing Sufu in the primary cilia
Title: Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
Mutant Evc2 proteins that localize in cilia but are displaced from the EvC zone are dominant inhibitors of Hh signaling.
Title: A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.
We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. Evc2 is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.
Title: Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

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)
Targeted (4) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548192

D5Mit127 (e-PCR), detects polymorphism
- UniSTS:130250

D5Mit13 (e-PCR), detects polymorphism
- UniSTS:130254

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in ciliary membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	TAS Traceable Author Statement more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of plasma membrane protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of plasma membrane protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: limbin

Names: Ellis van Creveld syndrome 2 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_145920.3 → NP_666032.1 limbin precursor

See identical proteins and their annotated locations for NP_666032.1

Status: VALIDATED

Source sequence(s)

AB083066, AW548747, BY270131

Consensus CDS

CCDS19248.1

UniProtKB/Swiss-Prot

Q8BRF3, Q8K1G2

Related

ENSMUSP00000055130.9, ENSMUST00000056365.9

Conserved Domains (2) summary

COG0419
Location:505 → 1020

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam12297
Location:147 → 570

EVC2_like; Ellis van Creveld protein 2 like protein

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_000071.7 Reference GRCm39 C57BL/6J

Range

37495801..37582399

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036165456.1 → XP_036021349.1 limbin isoform X1

Conserved Domains (2) summary

COG0419
Location:505 → 1017

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam12297
Location:147 → 570

EVC2_like; Ellis van Creveld protein 2 like protein
XM_006504082.3 → XP_006504145.1 limbin isoform X2

Conserved Domains (3) summary

TIGR03319
Location:410 → 573

RNase_Y; ribonuclease Y

COG0419
Location:370 → 885

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam12297
Location:38 → 435

EVC2_like; Ellis van Creveld protein 2 like protein
XM_036165457.1 → XP_036021350.1 limbin isoform X3

Conserved Domains (2) summary

PTZ00121
Location:217 → 681

PTZ00121; MAEBL; Provisional

pfam12297
Location:1 → 250

EVC2_like; Ellis van Creveld protein 2 like protein