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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
Location & Maps
more
  • Sequence Map
    Chr5:31253277-31291116 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      37840 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.27 cM, cytoband B1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    IFT172, intraflagellar transport 172
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IFT172, intraflagellar transport 172
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BBS20, NPHP17, osm-1, RP71, SLB, SRTD10, wim
  • Links
    NCBI Gene ID: 26160
    neXtProt AC: NX_Q9UG01

  • Chr Location
    2p23.3; chr2:27444373-27489811 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Ift172 mouse models; 2 with human IFT172 associations

Human Disease Mouse Models
       Atrioventricular Septal Defect; AVSD   OMIM: 606215 View 1 model
Vacterl Association with Hydrocephalus   OMIM: 276950 View 1 model
       Retinitis Pigmentosa 71; RP71   OMIM: 616394
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly; SRTD10   OMIM: 615630
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
    56 phenotypes from 5 alleles in 7 genetic backgrounds
    7 phenotypes from multigenic genotypes
    40 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.
  • All Mutations and Alleles
    16
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Radiation induced
    3
  • Spontaneous
    1
  • Targeted
    6
  • Genomic Mutations
    6 involving Ift172
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055210 VEGA Gene Model | MGI Sequence Detail 37840 C57BL/6J ±  kb
transcript OTTMUST00000136725 VEGA | MGI Sequence Detail 5403 Not Applicable  
polypeptide OTTMUSP00000072125 VEGA | MGI Sequence Detail 1749 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    128 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000008933 intraflagellar transport protein 172
  • InterPro Domains
    IPR016024 Armadillo-type fold
    IPR011044 Quinoprotein amine dehydrogenase, beta chain-like
    IPR011042 Six-bladed beta-propeller, TolB-like
    IPR001680 WD40 repeat
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
less
  • All nucleic 77
    cDNA 77

    Microarray probesets 3
Other
Accession IDs
less
MGI:1914911, MGI:4821836
References
more
  • Summaries
    All 55
    Developmental Gene Expression 7
    Diseases 3
    Gene Ontology 21
    Phenotypes 40
  • Earliest
    J:65500 Pazour GJ, et al., Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol. 2000 Oct 30;151(3):709-18
  • Latest
    J:217609 Goggolidou P, et al., ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis. Development. 2014 Oct;141(20):3966-77

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory