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Diaph2 diaphanous related formin 2 [ Mus musculus (house mouse) ]

Gene ID: 54004, updated on 26-Sep-2022

Summary

Official Symbol
Diaph2provided by MGI
Official Full Name
diaphanous related formin 2provided by MGI
Primary source
MGI:MGI:1858500
See related
Ensembl:ENSMUSG00000034480 AllianceGenome:MGI:1858500
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
Dia3; Drf2; Diap2; E430022I22Rik
Summary
Enables actin binding activity. Acts upstream of or within actin filament polymerization. Predicted to be located in endoplasmic reticulum and nucleolus. Is expressed in brain. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and primary ovarian insufficiency 2A. Orthologous to human DIAPH2 (diaphanous related formin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 3.8), lung adult (RPKM 1.9) and 27 other tissues See more
Orthologs
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Genomic context

See Diaph2 in Genome Data Viewer
Location:
X; X E3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (128650409..129366583)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (129749668..130465834)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 14 pseudogene Neighboring gene predicted gene, 18176 Neighboring gene replication protein A4 Neighboring gene uncharacterized LOC118568450 Neighboring gene alpha-enolase-like Neighboring gene predicted gene 14987 Neighboring gene predicted gene 7781 Neighboring gene predicted gene, 25170

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)
  • Gene trapped (3) 
  • Targeted (6)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in actin filament organization IEA
Inferred from Electronic Annotation
more info
 
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular component organization IEA
Inferred from Electronic Annotation
more info
 
involved_in female gamete generation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within oogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein diaphanous homolog 2
Names
diaphanous homolog 2

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_172493.2NP_766081.1  protein diaphanous homolog 2

    See identical proteins and their annotated locations for NP_766081.1

    Status: VALIDATED

    Source sequence(s)
    AL683856, AL807775, AY312280, BQ030953
    Consensus CDS
    CCDS53180.1
    UniProtKB/TrEMBL
    Q6W4W7
    Related
    ENSMUSP00000039334.9, ENSMUST00000037854.15
    Conserved Domains (3) summary
    smart00498
    Location:6301065
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:295483
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:104287
    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_000086.8 Reference GRCm39 C57BL/6J

    Range
    128650409..129366583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528582.5XP_006528645.1  protein diaphanous homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_006528645.1

    UniProtKB/Swiss-Prot
    O70566, Q8C2G8
    Related
    ENSMUSP00000108946.3, ENSMUST00000113320.3
    Conserved Domains (3) summary
    smart00498
    Location:6261061
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:291479
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:93283
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. XM_006528581.5XP_006528644.1  protein diaphanous homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_006528644.1

    UniProtKB/TrEMBL
    K4PWM5
    Conserved Domains (3) summary
    smart00498
    Location:6371072
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:302490
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:104294
    Drf_GBD; Diaphanous GTPase-binding Domain
  3. XM_036162018.1XP_036017911.1  protein diaphanous homolog 2 isoform X3

    Conserved Domains (3) summary
    pfam06367
    Location:284472
    Drf_FH3; Diaphanous FH3 Domain
    pfam02181
    Location:618992
    FH2; Formin Homology 2 Domain
    pfam06371
    Location:93276
    Drf_GBD; Diaphanous GTPase-binding Domain
  4. XM_030251385.2XP_030107245.1  protein diaphanous homolog 2 isoform X4

    Conserved Domains (3) summary
    pfam06367
    Location:302490
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:104294
    Drf_GBD; Diaphanous GTPase-binding Domain
    cl19758
    Location:637689
    FH2; Formin Homology 2 Domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017398.3: Suppressed sequence

    Description
    NM_017398.3: This RefSeq was permanently suppressed because the transcript has an intronic 3' end.