About   Help   FAQ
Diaph2 Gene Detail
Summary
  • Symbol
    Diaph2
  • Name
    diaphanous related formin 2
  • Synonyms
    Dia3, Diap2, E430022I22Rik, mDia3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858500
    NCBI Gene: 54004
  • Gene Overview
    MyGene.info: DIAPH2
Location & Maps
more
  • Sequence Map
    ChrX:129749742-130465834 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      716093 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 52.36 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DIAPH2, diaphanous related formin 2
  • Vertebrate Orthologs
    2
  • Human Ortholog
    DIAPH2, diaphanous related formin 2
    Orthology source: HGNC
  • Synonyms
    DIA, DIA2, DRF2, POF, POF2
  • Links
    NCBI Gene ID: 1730
    neXtProt AC: NX_O60879

  • Chr Location
    Xq21.33; chrX:96684663-97600598 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human DIAPH2 associations

Human Disease Mouse Models
       Premature Ovarian Failure 2A; POF2A   OMIM: 300511
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 3 alleles in 2 genetic backgrounds
    7 phenotypes from multigenic genotypes
    16 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    56
  • Gene trapped
    51
  • Targeted
    5
  • Incidental Mutations
    APF
Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. Chimeras hemizygous for another gene trapped allele exhibit hemorrhage, cardiac defects, and brain malformations from E11 onwards.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018669 VEGA Gene Model | MGI Sequence Detail 716093 C57BL/6J ±  kb
transcript OTTMUST00000044926 VEGA | MGI Sequence Detail 3742 Not Applicable  
polypeptide OTTMUSP00000020189 VEGA | MGI Sequence Detail 1102 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1841 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 22
    cDNA 20
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2444333
References
more
  • Summaries
    All 37
    Developmental Gene Expression 4
    Gene Ontology 3
    Phenotypes 13
  • Earliest
    J:47262 Bione S, et al., A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41
  • Latest
    J:226856 Dutta P, et al., Expression of multiple formins in adult tissues and during developmental stages of mouse brain. Gene Expr Patterns. 2015 Sep-Nov;19(1-2):52-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory