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Phf6 Gene Detail
Summary
  • Symbol
    Phf6
  • Name
    PHD finger protein 6
  • Synonyms
    2700007B13Rik, 4931428F02Rik, mKIAA1823
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918248
    NCBI Gene: 70998
  • Gene Overview
    MyGene.info: PHF6
Location & Maps
more
  • Sequence Map
    ChrX:52912266-52956943 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      44678 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 29.28 cM, cytoband A4
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PHF6, PHD finger protein 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PHF6, PHD finger protein 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BFLS, BORJ, CENP-31
  • Links
    NCBI Gene ID: 84295
    neXtProt AC: NX_Q8IWS0

  • Chr Location
    Xq26.2; chrX:134373312-134428792 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 12375
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PHF6
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PHF6 associations

Human Disease Mouse Models
       Borjeson-Forssman-Lehmann Syndrome; BFLS   OMIM: 301900
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    9 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
    10
  • Gene trapped
    7
  • Targeted
    3
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
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  • 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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017343 VEGA Gene Model | MGI Sequence Detail 44678 C57BL/6J ±  kb
transcript OTTMUST00000042126 VEGA | MGI Sequence Detail 4350 Not Applicable  
polypeptide OTTMUSP00000018937 VEGA | MGI Sequence Detail 364 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    180 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    cDNA 20

    Microarray probesets 5
Other
Accession IDs
less
MGI:1919774
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Gene Ontology 4
    Phenotypes 9
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:229060 Franzoni E, et al., miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. Elife. 2015;4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory