Frem3 Fras1 related extracellular matrix protein 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Frem3provided by MGI
Official Full Name: Fras1 related extracellular matrix protein 3provided by MGI
Primary source: MGI:MGI:2685641
See related: Ensembl:ENSMUSG00000042353 AllianceGenome:MGI:2685641
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: NV2; Gm795
Summary: Predicted to enable metal ion binding activity. Predicted to be involved in cell communication. Predicted to act upstream of or within cell adhesion. Located in basement membrane. Is expressed in several structures, including central nervous system; eye; salivary gland; skin; and visceral pleura. Orthologous to human FREM3 (FRAS1 related extracellular matrix 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 8 C2; 8 38.35 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (81337668..81422186)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (80611039..80695557)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

FREM3 mutant homozygotes were born at the expected Mendelian ratio and did not possess any defects characteristic of Fraser syndrome.
Title: Genetic mutation of Frem3 does not causeFraser syndrome in mice.
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.
Frem3 was present in a broad range of epithelial basement membranes where Fras1, Frem1 and Frem2 were missing
Title: Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice.
in the absence of Fras1 the basement membrane localization of Frem3 remains unaffected in contrast to Frem1 and Frem2 which are completely abolished from the basement membrane.
Title: Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.
Frem3 is a basement membrane protein that is distinct from other 12 CSPG repeats-containing extracellular matrix protein family proteins in its tissue distribution and competence to assemble into the basement membrane.
Title: Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1.
Study reports the immunofluorescence pattern of Frem3 and a comparative analysis of the spatiotemporal localization of all Fras1/Frem proteins during mouse embryonic development.
Title: Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

25.MMHAP56FRA10.seq (e-PCR)
- UniSTS:123690

AU022865 (e-PCR)
- UniSTS:167580

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell communication	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: FRAS1-related extracellular matrix protein 3

Names: NV domain containing protein NV2; NV domain-containing protein 2; embryonic blastocoelar extracellular matrix protein

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_001167898.1 → NP_001161370.1 FRAS1-related extracellular matrix protein 3 precursor

Status: VALIDATED

Source sequence(s)

AC130675, AC132606

Consensus CDS

CCDS52606.1

UniProtKB/Swiss-Prot

Q5H8B9

UniProtKB/TrEMBL

F8WHZ0

Related

ENSMUSP00000038015.7, ENSMUST00000039695.7

Conserved Domains (2) summary

pfam16184
Location:1476 → 1617

Cadherin_3; Cadherin-like

cl02522
Location:2007 → 2097

Calx-beta; Calx-beta domain