Diaph3 diaphanous related formin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Diaph3provided by MGI
Official Full Name: diaphanous related formin 3provided by MGI
Primary source: MGI:MGI:1927222
See related: Ensembl:ENSMUSG00000022021 AllianceGenome:MGI:1927222
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: Dia2; Drf3; Diap3; p134MDia2; 4930417P13Rik
Summary: Predicted to enable actin binding activity and small GTPase binding activity. Involved in actin filament polymerization. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; gonad; spleen; and vibrissa. Used to study autosomal dominant auditory neuropathy 1 and congenital dyserythropoietic anemia. Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1. Orthologous to human DIAPH3 (diaphanous related formin 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 4.9), liver E14.5 (RPKM 3.7) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 E1; 14 43.95 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (86892793..87378683, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (86655357..87141247, complement)

Chromosome 14 - NC_000080.7 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?

A Protumorigenic mDia2-MIRO1 Axis Controls Mitochondrial Positioning and Function in Cancer-Associated Fibroblasts.
Title: A Protumorigenic mDia2-MIRO1 Axis Controls Mitochondrial Positioning and Function in Cancer-Associated Fibroblasts.
DIAPH3 deficiency links microtubules to mitotic errors, defective neurogenesis, and brain dysfunction.
Title: DIAPH3 deficiency links microtubules to mitotic errors, defective neurogenesis, and brain dysfunction.
A paracrine activin A-mDia2 axis promotes squamous carcinogenesis via fibroblast reprogramming.
Title: A paracrine activin A-mDia2 axis promotes squamous carcinogenesis via fibroblast reprogramming.
neuronal drebrin A directly interacts with mDia2 formin.
Title: Neuronal drebrin A directly interacts with mDia2 formin to inhibit actin assembly.
The authors report that formins mDia1 and mDia2 dissociate faster under higher ionic strength and when actin concentration is increased. Profilin, known to increase the elongation rate of formin-associated filaments, surprisingly decreases the formin dissociation rate, by bringing formin FH1 domains in transient contact with the barbed end.
Title: Modulation of formin processivity by profilin and mechanical tension.
These data identify Diaph3 as a major guard of cortical progenitors, unravel novel functions of Diaphanous formins and add insights into the pathobiology of microcephaly.
Title: Lack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors.
mDia2 is regulated through acetylation and deacetylation at lysine 970 in the formin homology 2 domain
Title: Histone deacetylase 6 regulates cytokinesis and erythrocyte enucleation through deacetylation of formin protein mDia2.
findings add more complexity to the mDia2 activity cycle by showing that the open conformation may control actin dynamics also through actin-independent regulation of the proteasome
Title: Quantitative Proteomics Illuminates a Functional Interaction between mDia2 and the Proteasome.
Ineffective erythropoiesis caused by binucleated late-stage erythroblasts in mDia2 hematopoietic specific knockout mice.
Title: Ineffective erythropoiesis caused by binucleated late-stage erythroblasts in mDia2 hematopoietic specific knockout mice.
the interactome of auto-inhibited and constitutively active mDia2, is reported.
Title: Proteomic analyses uncover a new function and mode of action for mouse homolog of Diaphanous 2 (mDia2).

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:237232 (e-PCR)
- UniSTS:237232

NoName (e-PCR)
- UniSTS:224752

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin crosslink formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin crosslink formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin nucleation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within autophagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular component organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytokinesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within erythrocyte enucleation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within head development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macrophage differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of microtubule depolymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within podosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of deacetylase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within spindle checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ESCRT I complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament bundle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle pole	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilia tip-link density	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein diaphanous homolog 3

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_019670.2 → NP_062644.1 protein diaphanous homolog 3

See identical proteins and their annotated locations for NP_062644.1

Status: VALIDATED

Source sequence(s)

AC158988, AF094519, BC085191

Consensus CDS

CCDS36990.1

UniProtKB/Swiss-Prot

Q9Z207

UniProtKB/TrEMBL

F8WIG5, Q0VGT1

Related

ENSMUSP00000129420.2, ENSMUST00000168889.3

Conserved Domains (3) summary

pfam02181
Location:615 → 987

FH2; Formin Homology 2 Domain

pfam06367
Location:284 → 471

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:96 → 276

Drf_GBD; Diaphanous GTPase-binding 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_000080.7 Reference GRCm39 C57BL/6J

Range

86892793..87378683 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011245123.2 → XP_011243425.1 protein diaphanous homolog 3 isoform X1

UniProtKB/TrEMBL

F8WIG5, Q0VGT1

Conserved Domains (4) summary

pfam06345
Location:1028 → 1042

Drf_DAD; DRF Autoregulatory Domain

pfam02181
Location:604 → 976

FH2; Formin Homology 2 Domain

pfam06367
Location:273 → 460

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:85 → 265

Drf_GBD; Diaphanous GTPase-binding Domain
XM_006519312.5 → XP_006519375.1 protein diaphanous homolog 3 isoform X2

UniProtKB/TrEMBL

Q3UU77

Conserved Domains (3) summary

pfam02181
Location:615 → 987

FH2; Formin Homology 2 Domain

pfam06367
Location:284 → 471

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:96 → 276

Drf_GBD; Diaphanous GTPase-binding Domain