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Phf8 Gene Detail
Summary
  • Symbol
    Phf8
  • Name
    PHD finger protein 8
  • Synonyms
    9830141C09Rik, mKIAA1111
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444341
    NCBI Gene: 320595
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:150303668-150416855 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1718 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444341
 protein coding gene ChrX:150303621-150416855 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036178
 protein coding gene ChrX:149272283-149385593 (+)
A/J MGP_AJ_G0036154
 protein coding gene ChrX:148472366-148580320 (+)
AKR/J MGP_AKRJ_G0036080
 protein coding gene ChrX:153261847-153379316 (+)
BALB/cJ MGP_BALBcJ_G0036145
 protein coding gene ChrX:146659654-146763970 (+)
C3H/HeJ MGP_C3HHeJ_G0035853
 protein coding gene ChrX:149464063-149580943 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036670
 protein coding gene ChrX:153501367-153621468 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033494
 protein coding gene ChrX:140191365-140294910 (+)
CAST/EiJ MGP_CASTEiJ_G0035144
 protein coding gene ChrX:128899174-129004991 (+)
CBA/J MGP_CBAJ_G0035830
 protein coding gene ChrX:158038741-158157947 (+)
DBA/2J MGP_DBA2J_G0035988
 protein coding gene ChrX:147550444-147668138 (+)
FVB/NJ MGP_FVBNJ_G0035922
 protein coding gene ChrX:146685925-146790778 (+)
LP/J MGP_LPJ_G0036079
 protein coding gene ChrX:150351369-150468155 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035958
 protein coding gene ChrX:166172149-166307188 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036705
 protein coding gene ChrX:148754676-148876353 (+)
PWK/PhJ MGP_PWKPhJ_G0034838
 protein coding gene ChrX:125870261-125974218 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034664
 protein coding gene ChrX:129354219-129467500 (+)
WSB/EiJ MGP_WSBEiJ_G0035279
 protein coding gene ChrX:146859367-146967689 (+)



Homology
more
  • Human Ortholog
    PHF8, PHD finger protein 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHF8, PHD finger protein 8
  • Synonyms
    JHDM1F, KDM7B, MRXSSD, ZNF422
  • Links
    NCBI Gene ID: 23133
    neXtProt AC: NX_Q9UPP1
    UniProt: Q9UPP1

  • Chr Location
    Xp11.22; chrX:53936676-54048958 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Phf8 mouse models; 1 with human PHF8 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 4 alleles in 4 genetic backgrounds
    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.
Mice homozygous for a null allele show impaired learning and memory and impaired hippocampal long-term potentiation. Mice for another null allele show resiliency to depression-like behavior and decreased anxiety.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • 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
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
    853
  • Tissues
    135
  • cDNA Data
    100
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041229 Ensembl Gene Model | MGI Sequence Detail 113188 C57BL/6J ±  kb
    transcript ENSMUST00000168501 Ensembl | MGI Sequence Detail 6359 Not Applicable  
    polypeptide ENSMUSP00000127653 Ensembl | MGI Sequence Detail 1023 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 103
      cDNA 100
      Primer pair 3

      Microarray probesets 7
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory