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Aftph Gene Detail
Summary
  • Symbol
    Aftph
  • Name
    aftiphilin
  • Synonyms
    9130023F12Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923012
    NCBI Gene: 216549
  • Alliance
    genome feature page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:20635084-20691589 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 13.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1177 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923012
 protein coding gene Chr11:20635084-20691599 (-)
129S1/SvImJ ENSMUSG00200021426
 protein coding gene Chr11:17647374-17703878 (-)
A/J ENSMUSG00195005152
 protein coding gene Chr11:17497885-17554294 (-)
AKR/J ENSMUSG00220003291
 protein coding gene Chr11:17582166-17638685 (-)
BALB/cJ ENSMUSG00180003692
 protein coding gene Chr11:17486876-17543289 (-)
C3H/HeJ ENSMUSG00175007821
 protein coding gene Chr11:17513198-17569717 (-)
C57BL/6NJ ENSMUSG00215003228
 protein coding gene Chr11:17576474-17632980 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016119
 protein coding gene Chr11:16579575-16637703 (-)
CAST/EiJ ENSTCUG00005007121
 protein coding gene Chr11:17450228-17506737 (-)
CBA/J ENSMUSG00210008883
 protein coding gene Chr11:17490550-17547013 (-)
DBA/2J ENSMUSG00185011529
 protein coding gene Chr11:17604649-17661170 (-)
FVB/NJ ENSMUSG00205004584
 protein coding gene Chr11:17556732-17613200 (-)
JF1/MsJ ENSUMUG00000005402
 protein coding gene Chr11:17797180-17853501 (-)
LP/J ENSMUSG00230003393
 protein coding gene Chr11:18637097-18693507 (-)
NOD/ShiLtJ ENSMUSG00190008621
 protein coding gene Chr11:17627387-17683852 (-)
NZO/HlLtJ ENSMUSG00225020443
 protein coding gene Chr11:20667277-20723744 (-)
PWK/PhJ ENSLUMG00010011788
 protein coding gene Chr11:17455838-17512159 (-)
SPRET/EiJ ENSMSPG00010017096
 protein coding gene Chr11:17723042-17780441 (-)
WSB/EiJ ENSIUOG00005009578
 protein coding gene Chr11:17536326-17592772 (-)



Homology
more
  • Human Ortholog
    AFTPH, aftiphilin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AFTPH, aftiphilin
  • Synonyms
    Nbla10388
  • Links
    NCBI Gene ID: 54812
    UniProt: Q6ULP2

  • Chr Location
    2p14; chr2:64524289-64593007 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    16 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • 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
    597
  • cDNA Data
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000049659 Ensembl Gene Model | MGI Sequence Detail 56506 C57BL/6J ±  kb
    transcript ENSMUST00000146722 Ensembl | MGI Sequence Detail 3763 Not Applicable  
    polypeptide ENSMUSP00000121612 Ensembl | MGI Sequence Detail 931 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 25

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2144368, MGI:2144378, MGI:2144382, MGI:2144387, MGI:2144439
    References
    more
    • Summaries
      All 45
      Gene Ontology 6
      Phenotypes 16
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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
    09/15/2026
    MGI 6.29     		The Jackson Laboratory