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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
    gene 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
    18
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 MGP_129S1SvImJ_G0035718
 protein coding gene ChrX:48144841-48194371 (+)
A/J MGP_AJ_G0035701
 protein coding gene ChrX:48000935-48046642 (+)
AKR/J MGP_AKRJ_G0035621
 protein coding gene ChrX:49318546-49365241 (+)
BALB/cJ MGP_BALBcJ_G0035687
 protein coding gene ChrX:47535860-47580887 (+)
C3H/HeJ MGP_C3HHeJ_G0035391
 protein coding gene ChrX:48402545-48447361 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036217
 protein coding gene ChrX:49290798-49338591 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033069
 protein coding gene ChrX:45464612-45510681 (+)
CAST/EiJ MGP_CASTEiJ_G0034682
 protein coding gene ChrX:35840110-35887448 (+)
CBA/J MGP_CBAJ_G0035365
 protein coding gene ChrX:50654406-50703714 (+)
DBA/2J MGP_DBA2J_G0035520
 protein coding gene ChrX:47781307-47826328 (+)
FVB/NJ MGP_FVBNJ_G0035468
 protein coding gene ChrX:47500885-47548400 (+)
LP/J MGP_LPJ_G0035607
 protein coding gene ChrX:48473123-48519402 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035507
 protein coding gene ChrX:52209872-52259354 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036234
 protein coding gene ChrX:48025958-48073523 (+)
PWK/PhJ MGP_PWKPhJ_G0034381
 protein coding gene ChrX:35337605-35382421 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034226
 protein coding gene ChrX:36666041-36710497 (+)
WSB/EiJ MGP_WSBEiJ_G0034826
 protein coding gene ChrX:47589070-47634092 (+)



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
    neXtProt AC: NX_Q8IWS0
    UniProt: Q8IWS0

  • Chr Location
    Xq26.2; chrX:134373288-134428791 (+)  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
    62 phenotypes from 6 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    24 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
    27
  • 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
    1152
  • Tissues
    185
  • cDNA Data
    20
  • Literature Summary
    11
  • 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

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919774
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 7
      Phenotypes 24
    • 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:353567 Jalnapurkar SS, et al., PHF6 suppresses self-renewal of leukemic stem cells in AML. Leukemia. 2024 Sep;38(9):1938-1948
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory