Rflna refilin A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rflnaprovided by MGI
Official Full Name: refilin Aprovided by MGI
Primary source: MGI:MGI:1920371
See related: Ensembl:ENSMUSG00000037962 AllianceGenome:MGI:1920371
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: cfm; cfm2; Fam101a; 3110032G18Rik
Summary: Enables filamin binding activity. Acts upstream of or within several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Located in actin filament bundle. Is expressed in several structures, including alimentary system; respiratory system; sensory organ; skeleton; and unsegmented mesenchyme. Orthologous to human RFLNA (refilin A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in limb E14.5 (RPKM 34.6), stomach adult (RPKM 25.9) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G1.1; 5 63.95 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (125080512..125089611)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (125003448..125012547)

Chromosome 5 - NC_000071.7 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?

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.
cfm does not have any known functional domains, but is conserved in human, chick, Xenopus and zebrafish. A cfm null mutant was live-born without any apparent defects.
Title: cfm is a novel gene uniquely expressed in developing forebrain and midbrain, but its null mutant exhibits no obvious phenotype.

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Variation

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Alleles

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

Targeted (1) 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 filamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables filamin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament bundle organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of bone mineralization involved in bone maturation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of bone mineralization involved in bone maturation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of chondrocyte development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of chondrocyte development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in skeletal system morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin filament bundle	IBA Inferred from Biological aspect of Ancestor more info
located_in actin filament bundle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: refilin-A

Names: family with sequence similarity 101, member A; filamin-interacting protein FAM101A; protein FAM101A; refilinA; regulator of filamin protein A

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.