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Ift172 Gene Detail
Summary
  • Symbol
    Ift172
  • Name
    intraflagellar transport 172
  • Synonyms
    4930553F24Rik, avc1, wim
  • Feature Type
    protein coding gene
  • IDs
    MGI:2682064
    NCBI Gene: 67661
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:31253279-31291114 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.27 cM, cytoband B1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    128 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2682064
protein coding gene Chr5:31253277-31291116 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029422
protein coding gene Chr5:29245817-29289222 (-)
A/J MGP_AJ_G0029388
protein coding gene Chr5:28284306-28323256 (-)
AKR/J MGP_AKRJ_G0029338
protein coding gene Chr5:29434812-29473253 (-)
BALB/cJ MGP_BALBcJ_G0029399
protein coding gene Chr5:28799028-28837271 (-)
C3H/HeJ MGP_C3HHeJ_G0029120
protein coding gene Chr5:29455992-29503911 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029852
protein coding gene Chr5:31060062-31098164 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027090
protein coding gene Chr5:25749955-25972272 (-)
CAST/EiJ MGP_CASTEiJ_G0028530
protein coding gene Chr5:28538256-28576813 (-)
CBA/J MGP_CBAJ_G0029088
protein coding gene Chr5:31630763-31675900 (-)
DBA/2J MGP_DBA2J_G0029237
protein coding gene Chr5:28460926-28500711 (-)
FVB/NJ MGP_FVBNJ_G0029195
protein coding gene Chr5:27880025-27917741 (-)
LP/J MGP_LPJ_G0029322
protein coding gene Chr5:29699429-29738704 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029224
protein coding gene Chr5:32494621-32538404 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029886
protein coding gene Chr5:28950439-28988738 (-)
PWK/PhJ MGP_PWKPhJ_G0028255
protein coding gene Chr5:27584955-27624744 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028086
protein coding gene Chr5:28344504-28382217 (-)
WSB/EiJ MGP_WSBEiJ_G0028611
protein coding gene Chr5:29014356-29053252 (-)



Homology
more
  • Human Ortholog
    IFT172, intraflagellar transport 172
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IFT172, intraflagellar transport 172
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBS20, NPHP17, osm-1, RP71, SLB, SRTD10, wim
  • Links
    NCBI Gene ID: 26160
    neXtProt AC: NX_Q9UG01
    UniProt: Q9UG01

  • Chr Location
    2p23.3; chr2:27444373-27489819 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 15202
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: IFT172
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Ift172 mouse models; 2 with human IFT172 associations

Human Disease Mouse Models
      
IDs
View 1 model
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
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 6 alleles in 8 genetic backgrounds
    7 phenotypes from multigenic genotypes
    45 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67661 NCBI Gene Model | MGI Sequence Detail 37836 C57BL/6J ±  kb
    transcript NM_026298 RefSeq | MGI Sequence Detail 5440 C57BL/6  
    polypeptide Q6VH22 UniProt | EBI | MGI Sequence Detail 1749 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 78
      cDNA 78

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1914911, MGI:4821836
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 8
      Diseases 3
      Gene Ontology 21
      Phenotypes 45
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:262800 Gupta PR, et al., Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects. Hum Mol Genet. 2018 Jun 1;27(11):2012-2024

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    05/14/2019
    MGI 6.14
    The Jackson Laboratory