Frem2 Fras1 related extracellular matrix protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frem2provided by MGI
Official Full Name: Fras1 related extracellular matrix protein 2provided by MGI
Primary source: MGI:MGI:2444465
See related: Ensembl:ENSMUSG00000037016 AllianceGenome:MGI:2444465
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: my; ne; nv1; Gm409; b2b1562Clo; 6030440P17Rik; 8430406N05Rik
Summary: Predicted to enable metal ion binding activity. Involved in eye development. Acts upstream of or within several processes, including embryonic digit morphogenesis; heart development; and inner ear development. Located in basement membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; intraembryonic coelom; and sensory organ. Used to study Fraser syndrome and isolated cryptophthalmia. Human ortholog(s) of this gene implicated in Fraser syndrome 2 and isolated cryptophthalmia. Orthologous to human FREM2 (FRAS1 related extracellular matrix 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bladder adult (RPKM 4.5), limb E14.5 (RPKM 2.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 C; 3 25.24 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (53421359..53566014, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (53513938..53658593, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Report Fras1 up-regulation/Frem down-regulation in nephrons from mice with polycystic kidney disease and Frem2 mutations.
Title: Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
The QBRICK, together with Frem2, defines the ability of BMs to bind integrin 81 through modulating the BM assembly of nephronectin, thereby regulating the integrin 81-mediated signals transmitted from the ureteric buds to the metanephric mesenchyme.
Title: Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.
The localization pattern of Fras1 and Frem2 was indistinguishable, while both proteins along with Frem3 could be detected even in the absence of Frem1.
Title: Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice.
Fras1 is not only essential as a component of a macromolecular complex for the extracellular stabilization of Frem2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells.
Title: Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.
expression of Frem2 may dynamically alter the extracellular matrix to provide a substrate for cell migration and rearrangements during embryogenesis
Title: Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene.
Study reports a comparative analysis of the spatiotemporal localization of Fras1, Frem1, Frem2 and Frem3 proteins during mouse embryonic development.
Title: Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.
QBRICK/Frem1, Fras1, and Frem2 interactions at the basement membrane have roles in preventing Fraser syndrome-like defects
Title: Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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Phenotypes

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Associated conditions

Description	Tests
myelencephalic blebs GeneReviews: Not available

Variation

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Alleles

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

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4) 1 citation
Gene trapped (1) 1 citation
Radiation induced (1)
Spontaneous (2) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal 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 anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell communication	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISO Inferred from Sequence Orthology more info
involved_in eye development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelium	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: FRAS1-related extracellular matrix protein 2

Names: ECM3 homolog; NV domain containing protein NV1; NV domain-containing protein 1

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_172862.3 → NP_766450.2 FRAS1-related extracellular matrix protein 2 precursor

See identical proteins and their annotated locations for NP_766450.2

Status: VALIDATED

Source sequence(s)

AC138112, BC068185, BE864729, CF742372, CN530725, CN534900, CN536459

Consensus CDS

CCDS17348.1

UniProtKB/Swiss-Prot

Q4W2Q5, Q5H8C0, Q6NVD0, Q811G9, Q8C4G5, Q8CD46

UniProtKB/TrEMBL

Q1XGY5

Related

ENSMUSP00000088670.5, ENSMUST00000091137.6

Conserved Domains (2) summary

pfam16184
Location:1471 → 1612

Cadherin_3; Cadherin-like

cl02522
Location:1999 → 2091

Calx-beta; Calx-beta domain

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

53421359..53566014 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501462.5 → XP_006501525.1 FRAS1-related extracellular matrix protein 2 isoform X2

Conserved Domains (1) summary

pfam16184
Location:1505 → 1612

Cadherin_3; Cadherin-like
XM_006501461.4 → XP_006501524.1 FRAS1-related extracellular matrix protein 2 isoform X1

Conserved Domains (1) summary

pfam16184
Location:1505 → 1612

Cadherin_3; Cadherin-like