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Cfdp1 Gene Detail
Summary
  • Symbol
    Cfdp1
  • Name
    craniofacial development protein 1
  • Synonyms
    Bcnt, Bucentaur, cp27
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344403
    NCBI Gene: 23837
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:112495123-112580923 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 57.98 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2513 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1344403
 protein coding gene Chr8:112493314-112580969 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034146
 protein coding gene Chr8:114584776-114674987 (-)
A/J MGP_AJ_G0034126
 protein coding gene Chr8:109912209-110000101 (-)
AKR/J MGP_AKRJ_G0034053
 protein coding gene Chr8:113134791-113227918 (-)
BALB/cJ MGP_BALBcJ_G0034120
 protein coding gene Chr8:110089437-110177294 (-)
C3H/HeJ MGP_C3HHeJ_G0033831
 protein coding gene Chr8:113861957-113951201 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034640
 protein coding gene Chr8:118589137-118682197 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031582
 protein coding gene Chr8:102879555-103079329 (-)
CAST/EiJ MGP_CASTEiJ_G0033158
 protein coding gene Chr8:113492522-113589628 (-)
CBA/J MGP_CBAJ_G0033804
 protein coding gene Chr8:122668157-122761647 (-)
DBA/2J MGP_DBA2J_G0033960
 protein coding gene Chr8:109186944-109274133 (-)
FVB/NJ MGP_FVBNJ_G0033903
 protein coding gene Chr8:108167552-108253067 (-)
LP/J MGP_LPJ_G0034049
 protein coding gene Chr8:114737530-114835782 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033950
 protein coding gene Chr8:125517149-125608252 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034658
 protein coding gene Chr8:113127813-113220599 (-)
PWK/PhJ MGP_PWKPhJ_G0032860
 protein coding gene Chr8:108792050-108878299 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032700
 protein coding gene Chr8:111779493-111871827 (-)
WSB/EiJ MGP_WSBEiJ_G0033274
 protein coding gene Chr8:113808283-113900323 (-)



Homology
more
  • Human Ortholog
    CFDP1, craniofacial development protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFDP1, craniofacial development protein 1
  • Synonyms
    BCNT, BUCENTAUR, CENP-29, CP27, p97, SWC5, Yeti
  • Links
    NCBI Gene ID: 10428
    neXtProt AC: NX_Q9UEE9
    UniProt: Q9UEE9

  • Chr Location
    16q23.1; chr16:75293698-75433503 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 3 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    12 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 with loss of expression in the craniofacial region show extensive craniofacial defects including impaired development of the mandible and maxilla.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    3
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
    785
  • Tissues
    62
  • cDNA Data
    133
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031954 Ensembl Gene Model | MGI Sequence Detail 85801 C57BL/6J ±  kb
    transcript ENSMUST00000034432 Ensembl | MGI Sequence Detail 1178 Not Applicable  
    polypeptide ENSMUSP00000034432 Ensembl | MGI Sequence Detail 295 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 134
      cDNA 133
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142404
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Gene Ontology 3
      Phenotypes 12
    • Earliest
      J:47729 Takahashi I, et al., Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. Gene. 1998 May 12;211(2):387-94
    • Latest
      J:349245 Gopinathan G, et al., CFDP1 regulates the stability of pericentric heterochromatin thereby affecting RAN GTPase activity and mitotic spindle formation. PLoS Biol. 2024 Apr;22(4):e3002574
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory