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Bptf Gene Detail
Summary
  • Symbol
    Bptf
  • Name
    bromodomain PHD finger transcription factor
  • Synonyms
    9430093H17Rik, Falz, MGC:54978
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444008
    NCBI Gene: 207165
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:106923907-107022953 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 70.11 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2026 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444008
 protein coding gene Chr11:106923907-107022982 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019317
 protein coding gene Chr11:110393970-110498842 (-)
A/J MGP_AJ_G0019285
 protein coding gene Chr11:105670331-105769218 (-)
AKR/J MGP_AKRJ_G0019254
 protein coding gene Chr11:108821817-108931340 (-)
BALB/cJ MGP_BALBcJ_G0019259
 protein coding gene Chr11:106079279-106177449 (-)
C3H/HeJ MGP_C3HHeJ_G0019068
 protein coding gene Chr11:109114648-109214534 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019709
 protein coding gene Chr11:113804822-113914617 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017333
 protein coding gene Chr11:102938601-103039917 (-)
CAST/EiJ MGP_CASTEiJ_G0018621
 protein coding gene Chr11:110207139-110308924 (-)
CBA/J MGP_CBAJ_G0019037
 protein coding gene Chr11:118502164-118619995 (-)
DBA/2J MGP_DBA2J_G0019149
 protein coding gene Chr11:105144714-105241726 (-)
FVB/NJ MGP_FVBNJ_G0019140
 protein coding gene Chr11:104646984-104745642 (-)
LP/J MGP_LPJ_G0019219
 protein coding gene Chr11:110837556-110939470 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019170
 protein coding gene Chr11:117727946-117831350 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019746
 protein coding gene Chr11:109340966-109440908 (-)
PWK/PhJ MGP_PWKPhJ_G0018386
 protein coding gene Chr11:106257712-106358326 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018177
 protein coding gene Chr11:109099380-109195304 (-)
WSB/EiJ MGP_WSBEiJ_G0018672
 protein coding gene Chr11:109303634-109406839 (-)



Homology
more
  • Human Ortholog
    BPTF, bromodomain PHD finger transcription factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BPTF, bromodomain PHD finger transcription factor
  • Synonyms
    FAC1, FALZ, NEDDFL, NURF301
  • Links
    NCBI Gene ID: 2186
    neXtProt AC: NX_Q12830
    UniProt: Q12830

  • Chr Location
    17q24.2; chr17:67825503-67984378 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bptf mouse models; 3 with human BPTF associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
    50 phenotypes from 6 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    26 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 mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • 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
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
    949
  • Tissues
    186
  • cDNA Data
    281
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040481 Ensembl Gene Model | MGI Sequence Detail 99047 C57BL/6J ±  kb
    transcript ENSMUST00000106763 Ensembl | MGI Sequence Detail 12036 Not Applicable  
    polypeptide ENSMUSP00000102374 Ensembl | MGI Sequence Detail 3036 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 286
      cDNA 283
      Primer pair 2
      Other 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 6
      Phenotypes 26
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • 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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory