Fscn2 fascin actin-bundling protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fscn2provided by MGI
Official Full Name: fascin actin-bundling protein 2provided by MGI
Primary source: MGI:MGI:2443337
See related: Ensembl:ENSMUSG00000025380 AllianceGenome:MGI:2443337
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: Ahl8; A930022G03; C630046B20Rik
Summary: Predicted to enable actin filament binding activity. Acts upstream of or within eye photoreceptor cell development. Located in actin cytoskeleton and stereocilium. Is expressed in retina. Used to study auditory system disease; retinal degeneration; and retinitis pigmentosa 30. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 30. Orthologous to human FSCN2 (fascin actin-bundling protein 2, retinal). [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:: 11 E2; 11 84.08 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (120250991..120258999)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (120360165..120368173)

Chromosome 11 - NC_000077.7 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?

These results demonstrate that, in C57BL/6Jmice, Fscn2 is essential for maintaining ear and eye function and that a null mutation of Fscn2 leads to progressive hearing loss and retinal degeneration.
Title: Null Mutation of the Fascin2 Gene by TALEN Leading to Progressive Hearing Loss and Retinal Degeneration in C57BL/6J Mice.
The results show that cross-talk through CD40-CD40L signaling drives elevated fascin expression in DCs to support acquisition of full T-cell responses.
Title: CD40-CD40L cross-talk drives fascin expression in dendritic cells for efficient antigen presentation to CD4+ T cells.
A quantitative trait locus on chromosome 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice.
Title: A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice.
Fascin and Daam1 coimmunoprecipitated from cell extracts, and silencing of fascin led to a striking loss of Daam1 localization to filopodial shafts. Purified fascin bound directly to Daam1; fascin recruited Daam1 to and stabilized Daam1 on actin bundles.
Title: The formin Daam1 and fascin directly collaborate to promote filopodia formation.
The results of this study demonistrated that fascin-2 crosslinks function to slow actin depolymerization at stereocilia tips to maintain stereocilia length.
Title: β-Actin and fascin-2 cooperate to maintain stereocilia length.
Mutation in the Fscn2 gene underlies the early onset progressive hearing loss of DBA/2J mice attributed to the ahl8 locus.
Title: The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fascin-2

Names: fascin homolog 2, actin-bundling protein, retinal; retinal fascin

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_172802.4 → NP_766390.2 fascin-2

See identical proteins and their annotated locations for NP_766390.2

Status: VALIDATED

Source sequence(s)

AK050002, BB279997, BC109356

Consensus CDS

CCDS25731.1

UniProtKB/Swiss-Prot

Q32M02, Q8BWU0

Related

ENSMUSP00000026445.3, ENSMUST00000026445.3

Conserved Domains (2) summary

cd00257
Location:381 → 492

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 376

Fascin; Fascin 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_000077.7 Reference GRCm39 C57BL/6J

Range

120250991..120258999

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533259.4 → XP_006533322.1 fascin-2 isoform X1

Conserved Domains (2) summary

cd00257
Location:408 → 519

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

pfam06268
Location:266 → 373

Fascin; Fascin domain