Flnb filamin, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Flnbprovided by MGI
Official Full Name: filamin, betaprovided by MGI
Primary source: MGI:MGI:2446089
See related: Ensembl:ENSMUSG00000025278 AllianceGenome:MGI:2446089
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: Fln-b
Summary: Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including cellular response to type II interferon; epithelial cell development; and skeletal muscle tissue development. Located in several cellular components, including brush border; focal adhesion; and stress fiber. Is expressed in several structures, including alimentary system; brain; facial prominence; limb mesenchyme; and skeleton. Used to study spondylocarpotarsal synostosis syndrome. Human ortholog(s) of this gene implicated in Larsen syndrome; bone development disease (multiple); cleft palate; and spinal disease (multiple). Orthologous to human FLNB (filamin B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon adult (RPKM 35.6), placenta adult (RPKM 32.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A1; 14 4.59 cM

Exon count:: 46

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (14518185..14651852, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (7817921..7951588)

Chromosome 14 - NC_000080.7 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?

Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts.
Title: Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts.
this study finds highest filamin B editing levels in skeletal muscles, cartilage and bones, tissues where Filamin B function seems most important.
Title: Organ-wide profiling in mouse reveals high editing levels of Filamin B mRNA in the musculoskeletal system.
These findings indicate that FLNB is involved in attenuation of TGFb/BMP signaling and influences annulus fibrosus cell fate
Title: TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.
Fmn1 and FlnB have shared and independent functions.
Title: Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.
Filamin a, b-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeleton.
Title: Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements.
FlnB loss reduced Cdk1 phosphorylation (an inhibitor of G2/M phase progression) and Cdk1 inhibition in chondrocytes mimicked the null FlnB, premature differentiation phenotype, through a beta1-integrin receptor- Pi3k/Akt mediated pathway.
Title: Filamin B regulates chondrocyte proliferation and differentiation through Cdk1 signaling.
these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
Title: GPIbα regulates platelet size by controlling the subcellular localization of filamin.
Filamins A and B have a major role in the maintenance of actin-based mechanical linkages that enable endoplasmic spreading and microtubule extension as well as sustained traction forces and mature focal adhesions.
Title: Filamin depletion blocks endoplasmic spreading and destabilizes force-bearing adhesions.
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synotosis syndrome.
Title: Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
disruption of the ECM-beta1-integrin-Flnb pathway contributes to defects in vertebral and distal limb development, similar to those seen in the human autosomal recessive SCT due to Flnb mutations
Title: Filamin B mutations cause chondrocyte defects in skeletal development.

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)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Gene trapped (3) 1 citation
Targeted (3) 1 citation

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 actin filament binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISA Inferred from Sequence Alignment more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: filamin-B

Names: ABP-280-like protein; actin binding protein 278; actin-binding-like protein; beta-filamin

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_001081427.1 → NP_001074896.1 filamin-B isoform a

See identical proteins and their annotated locations for NP_001074896.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). This gene lacks full-length transcript support, and therefore the exon combination of this variant is inferred based on tiled partial transcripts and full-length orthologous alignments, e.g., human AF043045.1.

Source sequence(s)

AA272439, AC140322, AK050046, BG076906, BP753071, BP753829, BP765788, BU055777, BU703688, BY101832, CA749811, CB290081, CD546916, CD549389, CD555839, CF165547, CF166040, CF536812, CF898917, CJ112968, CN534523, CV558093, DV653022, DV653075

Consensus CDS

CCDS70540.1

UniProtKB/Swiss-Prot

E9QNV9, Q80X90, Q8VHX4, Q8VHX7, Q99KY3

Related

ENSMUSP00000052020.9, ENSMUST00000052678.9

Conserved Domains (4) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1418 → 1508

Filamin; Filamin/ABP280 repeat

cl23780
Location:1718 → 1791

PepSY_TM; PepSY-associated TM region
NM_134080.1 → NP_598841.1 filamin-B isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. This gene lacks full-length transcript support, and therefore the exon combination of this variant is inferred based on tiled partial transcripts and full-length orthologous alignments, e.g., human AB191258.1.

Source sequence(s)

AC140322, AK050046, BG076906, BM949278, BM950536, BP753072, BP765788, BU055777, BU703688, BY101832, CA537344, CB194973, CB290081, CD546916, CD549389, CD555839, CF165547, CF166040, CF172628, CF551577, CF736029, CJ112968, CN534523, CV558093

Conserved Domains (3) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1418 → 1508

Filamin; Filamin/ABP280 repeat

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_000080.7 Reference GRCm39 C57BL/6J

Range

14518185..14651852 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518050.2 → XP_006518113.1 filamin-B isoform X1

See identical proteins and their annotated locations for XP_006518113.1

Conserved Domains (2) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

COG5069
Location:14 → 240

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]