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Faap100 Gene Detail
Summary
  • Symbol
    Faap100
  • Name
    Fanconi anemia core complex associated protein 100
  • Synonyms
    2310003H01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919135
    NCBI Gene: 71885
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:120260388-120269572 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 84.08 cM, cytoband E2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    227 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919135
 protein coding gene Chr11:120259881-120269590 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019497
 protein coding gene Chr11:124825414-124835124 (-)
A/J MGP_AJ_G0019465
 protein coding gene Chr11:119275979-119285686 (-)
AKR/J MGP_AKRJ_G0019435
 protein coding gene Chr11:122860500-122870202 (-)
BALB/cJ MGP_BALBcJ_G0019440
 protein coding gene Chr11:119628649-119638362 (-)
C3H/HeJ MGP_C3HHeJ_G0019246
 protein coding gene Chr11:123197538-123207534 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019888
 protein coding gene Chr11:128601754-128611462 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017514
 protein coding gene Chr11:116266191-116275635 (-)
CAST/EiJ MGP_CASTEiJ_G0018800
 protein coding gene Chr11:124674592-124684345 (-)
CBA/J MGP_CBAJ_G0019217
 protein coding gene Chr11:133638153-133647856 (-)
DBA/2J MGP_DBA2J_G0019329
 protein coding gene Chr11:118644942-118654648 (-)
FVB/NJ MGP_FVBNJ_G0019321
 protein coding gene Chr11:118349591-118359314 (-)
LP/J MGP_LPJ_G0019401
 protein coding gene Chr11:125128078-125137786 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019354
 protein coding gene Chr11:132478096-132487794 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019928
 protein coding gene Chr11:123547049-123556760 (-)
PWK/PhJ MGP_PWKPhJ_G0018566
 protein coding gene Chr11:120073261-120083119 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018358
 protein coding gene Chr11:123310307-123320017 (-)
WSB/EiJ MGP_WSBEiJ_G0018852
 protein coding gene Chr11:123537101-123546911 (-)



Homology
more
  • Human Ortholog
    FAAP100, FA core complex associated protein 100
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FAAP100, FA core complex associated protein 100
  • Synonyms
    C17orf70
  • Links
    NCBI Gene ID: 80233
    neXtProt AC: NX_Q0VG06
    UniProt: Q0VG06

  • Chr Location
    17q25.3; chr17:81539885-81553961 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    5 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 exhibit primordial germ cell loss at E9.5 associated with increased DNA damage and apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    5
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
    839
  • Tissues
    18
  • cDNA Data
    48
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 71885 NCBI Gene Model | MGI Sequence Detail 9185 C57BL/6J ±  kb
    transcript NM_027980 RefSeq | MGI Sequence Detail 3175 Not Specified  
    polypeptide A2ACJ2 UniProt | EBI | MGI Sequence Detail 879 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000007307 Fanconi anemia core complex-associated protein 100
      (term hierarchy)
    • InterPro Domains
      IPR029251 Fanconi anemia-associated protein of 100kDa
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      Microarray probesets 4
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 5
    • 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:339060 Xu W, et al., FAAP100 is required for the resolution of transcription-replication conflicts in primordial germ cells. BMC Biol. 2023 Aug 15;21(1):174
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory