About   Help   FAQ
Pfn3 Gene Detail
Summary
  • Symbol
    Pfn3
  • Name
    profilin 3
  • Synonyms
    1700012P12Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2178800
    NCBI Gene: 75477
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:55562501-55563045 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 30.06 cM, cytoband B2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    26 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2178800
 protein coding gene Chr13:55562501-55563045 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020595
 protein coding gene Chr13:54894353-54894766 (-)
A/J MGP_AJ_G0020549
 protein coding gene Chr13:52865216-52865629 (-)
AKR/J MGP_AKRJ_G0020527
 protein coding gene Chr13:54419506-54419919 (-)
BALB/cJ MGP_BALBcJ_G0020545
 protein coding gene Chr13:53092627-53093040 (-)
C3H/HeJ MGP_C3HHeJ_G0020344
 protein coding gene Chr13:54236082-54236495 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020979
 protein coding gene Chr13:56546732-56547145 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018561
 protein coding gene Chr13:50812866-50813279 (-)
CAST/EiJ MGP_CASTEiJ_G0019858
 protein coding gene Chr13:54336530-54336943 (-)
CBA/J MGP_CBAJ_G0020304
 protein coding gene Chr13:58715313-58715726 (-)
DBA/2J MGP_DBA2J_G0020427
 protein coding gene Chr13:52416895-52417308 (-)
FVB/NJ MGP_FVBNJ_G0020406
 protein coding gene Chr13:51885277-51885690 (-)
LP/J MGP_LPJ_G0020503
 protein coding gene Chr13:55150151-55150564 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020435
 protein coding gene Chr13:58185345-58185758 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021022
 protein coding gene Chr13:54011020-54011433 (-)
PWK/PhJ MGP_PWKPhJ_G0019614
 protein coding gene Chr13:52442951-52443364 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019441
 protein coding gene Chr13:52931379-52931792 (-)
WSB/EiJ MGP_WSBEiJ_G0019920
 protein coding gene Chr13:54367792-54368205 (-)



Homology
more
  • Human Ortholog
    PFN3, profilin 3
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PFN3, profilin 3
  • Synonyms
    profilin-3
  • Links
    NCBI Gene ID: 345456
    neXtProt AC: NX_P60673
    UniProt: P60673

  • Chr Location
    5q35.3; chr5:177400109-177400661 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 1 genetic background
    7 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.
Nullizygous mutations of this gene cause male subfertility, reduced sperm count/vitality, asthenozoospermia, globozospermia, deformed sperm flagella and impaired spermiogenesis associated with defects in acrosome biogenesis, autophagy, manchette development and mitochondrial organization.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    706
  • cDNA Data
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 75477 NCBI Gene Model | MGI Sequence Detail 545 C57BL/6J ±  kb
    transcript NM_029303 RefSeq | MGI Sequence Detail 574 Not Specified  
    polypeptide Q9DAD6 UniProt | EBI | MGI Sequence Detail 137 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1922727
    References
    more
    • Summaries
      All 28
      Diseases 1
      Gene Ontology 6
      Phenotypes 7
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:320651 Umer N, et al., Loss of Profilin3 Impairs Spermiogenesis by Affecting Acrosome Biogenesis, Autophagy, Manchette Development and Mitochondrial Organization. Front Cell Dev Biol. 2021;9:749559
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory