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

Gene ID: 56419, updated on 23-Oct-2022

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
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Genomic context

See Diaph3 in Genome Data Viewer
Location:
14; 14 E1
Exon count:
29
Annotation release Status Assembly Chr Location
109 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_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32913 Neighboring gene predicted gene, 25115 Neighboring gene predicted gene, 32969 Neighboring gene predicted gene, 33025 Neighboring gene predicted gene, 41223 Neighboring gene predicted gene, 41222 Neighboring gene predicted gene, 23278 Neighboring gene tudor domain containing 3 Neighboring gene ATP synthase subunit d, mitochondrial pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (6)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA4117

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular component organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_019670.2NP_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
    Related
    ENSMUSP00000129420.2, ENSMUST00000168889.3
    Conserved Domains (3) summary
    pfam02181
    Location:615987
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:284471
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:96276
    Drf_GBD; Diaphanous GTPase-binding Domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    86892793..87378683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    pfam06345
    Location:10281042
    Drf_DAD; DRF Autoregulatory Domain
    pfam02181
    Location:604976
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:273460
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:85265
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. XM_006519312.5XP_006519375.1  protein diaphanous homolog 3 isoform X2

    Conserved Domains (3) summary
    pfam02181
    Location:615987
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:284471
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:96276
    Drf_GBD; Diaphanous GTPase-binding Domain