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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:52001143-52045820 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 29.28 cM, cytoband A4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    870 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918248
 protein coding gene ChrX:52001091-52045838 (+)
129S1/SvImJ ENSMUSG00200037633
 protein coding gene ChrX:35896914-35941581 (+)
A/J ENSMUSG00195015144
 protein coding gene ChrX:38673740-38718425 (+)
AKR/J ENSMUSG00220036411
 protein coding gene ChrX:35551789-35596462 (+)
BALB/cJ ENSMUSG00180034049
 protein coding gene ChrX:36393873-36438559 (+)
C3H/HeJ ENSMUSG00175041346
 protein coding gene ChrX:39428496-39473173 (+)
C57BL/6NJ ENSMUSG00215047145
 protein coding gene ChrX:36401575-36446253 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033069
 protein coding gene ChrX:45464612-45510681 (+)
CAST/EiJ ENSTCUG00005038086
 protein coding gene ChrX:38376423-38420217 (+)
CBA/J ENSMUSG00210037532
 protein coding gene ChrX:36651953-36696632 (+)
DBA/2J ENSMUSG00185032511
 protein coding gene ChrX:47355965-47400664 (+)
FVB/NJ ENSMUSG00205027422
 protein coding gene ChrX:34992136-35036799 (+)
JF1/MsJ ENSUMUG00000026820
 protein coding gene ChrX:66389074-66433159 (+)
LP/J ENSMUSG00230028067
 protein coding gene ChrX:53900352-53945024 (+)
NOD/ShiLtJ ENSMUSG00190027160
 protein coding gene ChrX:35760305-35804978 (+)
NZO/HlLtJ ENSMUSG00225042415
 protein coding gene ChrX:59075066-59119739 (+)
PWK/PhJ ENSLUMG00010041138
 protein coding gene ChrX:36075240-36119336 (+)
SPRET/EiJ ENSMSPG00010024109
 protein coding gene ChrX:37789156-37830412 (+)
WSB/EiJ ENSIUOG00005044306
 protein coding gene ChrX:36903237-36948137 (+)



Homology
more
  • Human Ortholog
    PHF6, PHD finger protein 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHF6, PHD finger protein 6
  • Synonyms
    BFLS, BORJ, CENP-31
  • Links
    NCBI Gene ID: 84295
    UniProt: Q8IWS0

  • Chr Location
    Xq26.2; chrX:134373286-134428792 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Phf6 mouse models; 3 with human PHF6 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 5 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    32 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.
Mice hemi- or homozygous for a null allele die perinatally. Males hemizygous for a certain single point mutation show reduced body weight/length, cognitive and behavioral deficits, increased susceptibility to PTZ-induced seizures, and neuronal hyperexcitability. Conditional homo- or hemizygous KO in hematopoietic lineage affects B and T cell numbers and enhances hematopoietic stem cell proliferation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    7
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
membraneless 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
    1043
  • Tissues
    185
  • cDNA Data
    20
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025626 Ensembl Gene Model | MGI Sequence Detail 44678 C57BL/6J ±  kb
    transcript ENSMUST00000078944 Ensembl | MGI Sequence Detail 4350 Not Applicable  
    polypeptide ENSMUSP00000077971 Ensembl | MGI Sequence Detail 364 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 21
      Primer pair 1
      Antibodies 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919774
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 12
      Diseases 2
      Gene Ontology 7
      Phenotypes 32
    • 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:386312 Wang J, et al., Regulation of physical activity and energy expenditure through Phf6 in the medial preoptic area. Nat Commun. 2026 Mar 24;17(1)
    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
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory