Fat4 FAT atypical cadherin 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fat4provided by MGI
Official Full Name: FAT atypical cadherin 4provided by MGI
Primary source: MGI:MGI:3045256
See related: Ensembl:ENSMUSG00000046743 AllianceGenome:MGI:3045256
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: 9430004M15; 6030410K14Rik
Summary: Predicted to enable calcium ion binding activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; hippo signaling; and nervous system development. Acts upstream of or within several processes, including cell surface receptor signaling pathway; condensed mesenchymal cell proliferation; and ossification involved in bone maturation. Located in apical part of cell. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; hemolymphoid system gland; and metanephros. Human ortholog(s) of this gene implicated in Hennekam syndrome and Van Maldergem syndrome 2. Orthologous to human FAT4 (FAT atypical cadherin 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in limb E14.5 (RPKM 8.9), CNS E14 (RPKM 5.9) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 B; 3 18.72 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (38939867..39066134)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (38884667..39011992)

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?

FAT4 overexpression promotes antitumor immunity by regulating the beta-catenin/STT3/PD-L1 axis in cervical cancer.
Title: FAT4 overexpression promotes antitumor immunity by regulating the β-catenin/STT3/PD-L1 axis in cervical cancer.
Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.
Title: Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.
Hedgehog-Activated Fat4 and PCP Pathways Mediate Mesenchymal Cell Clustering and Villus Formation in Gut Development.
Title: Hedgehog-Activated Fat4 and PCP Pathways Mediate Mesenchymal Cell Clustering and Villus Formation in Gut Development.
Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human Van Maldergem syndrome and Dchs1-Fat4 signalling is essential for osteoblast differentiation.
Title: Dchs1-Fat4 regulation of osteogenic differentiation in mouse.
FAT4 interacts with RET to fine-tune RET signaling, establishing a juxtacrine mechanism controlling kidney development.
Title: FAT4 Fine-Tunes Kidney Development by Regulating RET Signaling.
Fat4 is not required for the canonical activation of Hippo kinases but it sequesters a partner of Yap1, Amotl1, out of the nucleus.
Title: Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth.
Dchs1-Fat4 planar cell polarity pathway controls cell orientation in the early skeletal condensation to define the shape and relative dimensions of the mouse sternum.
Title: Dchs1-Fat4 regulation of polarized cell behaviours during skeletal morphogenesis.
Fat4 and Dachsous1 are critical regulators of lymphatic valve morphogenesis. Valve defects may contribute to lymphedema in Hennekam syndrome caused by Fat4 mutations.
Title: Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report.
novel mechanisms of Fat4-Dchs1 signalling have evolved to control cell proliferation within the developing vertebrae.
Title: Fat4-Dchs1 signalling controls cell proliferation in developing vertebrae.
Fat1 interacts with Fat4 to regulate neural tube closure, neural progenitor proliferation and apical constriction during mouse brain development.
Title: Fat1 interacts with Fat4 to regulate neural tube closure, neural progenitor proliferation and apical constriction during mouse brain development.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (3) 1 citation

General gene information

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Markers

D3Mit295 (e-PCR), detects polymorphism
- UniSTS:129726

Fat4 (e-PCR), detects polymorphism
- UniSTS:478928

Fat4 (e-PCR), detects polymorphism
- UniSTS:478934

D13S289 (e-PCR), detects polymorphism
- UniSTS:39143

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within condensed mesenchymal cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within condensed mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in hippo signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nephron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of metanephric nephron tubule epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protocadherin Fat 4

Names: FAT tumor suppressor homolog 4; fat-like cadherin protein FAT-J

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_183221.4 → NP_899044.3 protocadherin Fat 4 precursor

See identical proteins and their annotated locations for NP_899044.3

Status: VALIDATED

Source sequence(s)

AC122841, AC161228

Consensus CDS

CCDS17325.1

UniProtKB/Swiss-Prot

E9QMR9, Q2PZL6, Q68FE0, Q8BM82, Q8CD68

Related

ENSMUSP00000061836.8, ENSMUST00000061260.8

Conserved Domains (4) summary

cd11304
Location:2159 → 2254

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:3864 → 3900

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:3979 → 4142

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 ...

pfam02210
Location:4252 → 4372

Laminin_G_2; Laminin G domain